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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0333794340:

Variant ID: vg0333794340 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 33794340
Reference Allele: CAlternative Allele: T,CACATTGTATATTAGT,CGCATTGTATATTAGT,CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT,CTCTGTTTTAACTTTCTAACATTGTATGTTAGT
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGAGGAGATGGGCCGTGGAATGCGTTATGCGTAGCGCGTTGAGGTGAAGAGTATCGCCAGCGGAACGTGATTCAATCTATGTTATTACAATACAACTTC[C/T,CACATTGTATATTAGT,CGCATTGTATATTAGT,CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT,CTCTGTTTTAACTTTCTAACATTGTATGTTAGT]
AAATCTAGATAAGTCTTACAATATGAAACAGAAGAATTAGCTACTTTAGAATGAAATAGAAGGGTTCTATTTACTTAATTTATTATATTTTGGATCGAGT

Reverse complement sequence

ACTCGATCCAAAATATAATAAATTAAGTAAATAGAACCCTTCTATTTCATTCTAAAGTAGCTAATTCTTCTGTTTCATATTGTAAGACTTATCTAGATTT[G/A,ACTAATATACAATGTG,ACTAATATACAATGCG,ACTAATATACAATGTTAGAAAGTCCTGTATTGTAGAACGGAG,ACTAACATACAATGTTAGAAAGTTAAAACAGAG]
GAAGTTGTATTGTAATAACATAGATTGAATCACGTTCCGCTGGCGATACTCTTCACCTCAACGCGCTACGCATAACGCATTCCACGGCCCATCTCCTCGC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.10% 31.40% 1.46% 0.55% CACATTGTATATTAGT: 13.50%; CGCATTGTATATTAGT: 6.83%; CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT: 0.06%
All Indica  2759 71.60% 1.30% 1.41% 0.94% CACATTGTATATTAGT: 13.52%; CGCATTGTATATTAGT: 11.20%; CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT: 0.04%
All Japonica  1512 5.60% 93.10% 1.26% 0.00% CACATTGTATATTAGT: 0.13%
Aus  269 1.50% 0.00% 2.23% 0.00% CACATTGTATATTAGT: 92.94%; CGCATTGTATATTAGT: 3.35%
Indica I  595 78.20% 0.00% 0.84% 0.00% CACATTGTATATTAGT: 16.30%; CGCATTGTATATTAGT: 4.71%
Indica II  465 78.90% 3.20% 0.65% 0.22% CACATTGTATATTAGT: 13.55%; CGCATTGTATATTAGT: 3.23%; CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT: 0.22%
Indica III  913 65.30% 0.80% 1.53% 2.74% CGCATTGTATATTAGT: 18.62%; CACATTGTATATTAGT: 11.06%
Indica Intermediate  786 69.70% 1.70% 2.16% 0.00% CACATTGTATATTAGT: 14.25%; CGCATTGTATATTAGT: 12.21%
Temperate Japonica  767 0.70% 97.40% 1.69% 0.00% CACATTGTATATTAGT: 0.26%
Tropical Japonica  504 12.70% 86.50% 0.79% 0.00% NA
Japonica Intermediate  241 6.20% 92.90% 0.83% 0.00% NA
VI/Aromatic  96 85.40% 13.50% 1.04% 0.00% NA
Intermediate  90 38.90% 34.40% 4.44% 0.00% CACATTGTATATTAGT: 14.44%; CGCATTGTATATTAGT: 5.56%; CTCCGTTCTACAATACAGGACTTTCTAACATTGTATATTAGT: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0333794340 C -> T LOC_Os03g59360.1 upstream_gene_variant ; 1397.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> T LOC_Os03g59380.1 upstream_gene_variant ; 4600.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> T LOC_Os03g59350.1 downstream_gene_variant ; 4774.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> T LOC_Os03g59370.1 downstream_gene_variant ; 2449.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> T LOC_Os03g59360-LOC_Os03g59370 intergenic_region ; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCCGTTCTACAATACAGGACTTTCTAACA TTGTATATTAGT LOC_Os03g59360.1 upstream_gene_variant ; 1398.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCCGTTCTACAATACAGGACTTTCTAACA TTGTATATTAGT LOC_Os03g59380.1 upstream_gene_variant ; 4599.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCCGTTCTACAATACAGGACTTTCTAACA TTGTATATTAGT LOC_Os03g59350.1 downstream_gene_variant ; 4775.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCCGTTCTACAATACAGGACTTTCTAACA TTGTATATTAGT LOC_Os03g59370.1 downstream_gene_variant ; 2448.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCCGTTCTACAATACAGGACTTTCTAACA TTGTATATTAGT LOC_Os03g59360-LOC_Os03g59370 intergenic_region ; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CACATTGTATATTAGT LOC_Os03g59360.1 upstream_gene_variant ; 1398.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CACATTGTATATTAGT LOC_Os03g59380.1 upstream_gene_variant ; 4599.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CACATTGTATATTAGT LOC_Os03g59350.1 downstream_gene_variant ; 4775.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CACATTGTATATTAGT LOC_Os03g59370.1 downstream_gene_variant ; 2448.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CACATTGTATATTAGT LOC_Os03g59360-LOC_Os03g59370 intergenic_region ; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CGCATTGTATATTAGT LOC_Os03g59360.1 upstream_gene_variant ; 1398.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CGCATTGTATATTAGT LOC_Os03g59380.1 upstream_gene_variant ; 4599.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CGCATTGTATATTAGT LOC_Os03g59350.1 downstream_gene_variant ; 4775.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CGCATTGTATATTAGT LOC_Os03g59370.1 downstream_gene_variant ; 2448.0bp to feature; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CGCATTGTATATTAGT LOC_Os03g59360-LOC_Os03g59370 intergenic_region ; MODIFIER silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> DEL N N silent_mutation Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCTGTTTTAACTTTCTAACATTGTATGTT AGT LOC_Os03g59360.1 upstream_gene_variant ; 1398.0bp to feature; MODIFIER N Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCTGTTTTAACTTTCTAACATTGTATGTT AGT LOC_Os03g59380.1 upstream_gene_variant ; 4599.0bp to feature; MODIFIER N Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCTGTTTTAACTTTCTAACATTGTATGTT AGT LOC_Os03g59350.1 downstream_gene_variant ; 4775.0bp to feature; MODIFIER N Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCTGTTTTAACTTTCTAACATTGTATGTT AGT LOC_Os03g59370.1 downstream_gene_variant ; 2448.0bp to feature; MODIFIER N Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N
vg0333794340 C -> CTCTGTTTTAACTTTCTAACATTGTATGTT AGT LOC_Os03g59360-LOC_Os03g59370 intergenic_region ; MODIFIER N Average:94.686; most accessible tissue: Minghui63 flower, score: 98.04 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0333794340 C CACAT* -0.2 0.1 -0.12 -0.03 -0.02 -0.05
vg0333794340 C CGCAT* -0.21 0.09 -0.13 -0.05 -0.02 -0.05
vg0333794340 C CTCCG* -0.15 -0.29 -0.27 -0.07 -0.23 -0.47
vg0333794340 C CTCTG* -0.02 -0.13 -0.16 -0.02 -0.11 -0.22
vg0333794340 C T -0.02 -0.01 0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0333794340 NA 8.48E-44 mr1089 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 4.26E-41 mr1093 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.98E-11 mr1175 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.03E-27 mr1238 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.62E-17 mr1253 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.20E-29 mr1309 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.23E-38 mr1435 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 2.55E-33 mr1448 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.12E-17 mr1484 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.41E-17 mr1566 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 5.52E-52 mr1599 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.12E-25 mr1617 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.40E-73 mr1629 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 6.41E-32 mr1638 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 6.82E-10 mr1714 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.20E-39 mr1828 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.23E-27 mr1841 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.25E-17 mr1913 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.60E-10 mr1945 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.28E-53 mr1089_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.45E-62 mr1125_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 7.84E-37 mr1129_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 3.50E-12 mr1138_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 4.17E-31 mr1238_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 9.79E-39 mr1251_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.39E-35 mr1257_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 7.12E-26 mr1323_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 8.92E-51 mr1404_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 7.37E-39 mr1435_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.34E-29 mr1484_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.35E-58 mr1599_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 2.66E-70 mr1828_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 4.23E-36 mr1841_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 2.23E-20 mr1900_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.29E-31 mr1913_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 1.51E-20 mr1945_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0333794340 NA 9.56E-52 mr1991_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251