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Detailed information for vg0330850428:

Variant ID: vg0330850428 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 30850428
Reference Allele: TAlternative Allele: C,TTC
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTCCATGACTCCATGGATGATATAGAAGAAGCAGAAGAATAAAAGTCATACATAGAGAAGTTTCTGACACCTGTAGCTTCTTTTGGATTCAGAAGCTTCC[T/C,TTC]
CAGCAATTTAACTTTTCATTCGAATTATGAGAAGTTGTAGTTGTAGAATTCAACAAATAAACTATAGGTAAGAAGCTGTAAAACTCGGCTTCTCCAGTTT

Reverse complement sequence

AAACTGGAGAAGCCGAGTTTTACAGCTTCTTACCTATAGTTTATTTGTTGAATTCTACAACTACAACTTCTCATAATTCGAATGAAAAGTTAAATTGCTG[A/G,GAA]
GGAAGCTTCTGAATCCAAAAGAAGCTACAGGTGTCAGAAACTTCTCTATGTATGACTTTTATTCTTCTGCTTCTTCTATATCATCCATGGAGTCATGGAC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.70% 11.00% 0.04% 0.00% TTC: 7.17%
All Indica  2759 96.40% 1.10% 0.04% 0.00% TTC: 2.43%
All Japonica  1512 68.50% 31.30% 0.07% 0.00% TTC: 0.07%
Aus  269 6.30% 0.00% 0.00% 0.00% TTC: 93.68%
Indica I  595 99.50% 0.30% 0.00% 0.00% TTC: 0.17%
Indica II  465 94.20% 4.50% 0.22% 0.00% TTC: 1.08%
Indica III  913 97.90% 0.10% 0.00% 0.00% TTC: 1.97%
Indica Intermediate  786 93.60% 0.90% 0.00% 0.00% TTC: 5.47%
Temperate Japonica  767 43.70% 56.30% 0.00% 0.00% NA
Tropical Japonica  504 98.00% 2.00% 0.00% 0.00% NA
Japonica Intermediate  241 85.90% 13.30% 0.41% 0.00% TTC: 0.41%
VI/Aromatic  96 88.50% 2.10% 0.00% 0.00% TTC: 9.38%
Intermediate  90 72.20% 16.70% 0.00% 0.00% TTC: 11.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0330850428 T -> C LOC_Os03g53800.1 upstream_gene_variant ; 2615.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> C LOC_Os03g53800.2 upstream_gene_variant ; 1278.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> C LOC_Os03g53800.3 upstream_gene_variant ; 2611.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> C LOC_Os03g53800.5 upstream_gene_variant ; 2611.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> C LOC_Os03g53800.4 upstream_gene_variant ; 3255.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> C LOC_Os03g53790-LOC_Os03g53800 intergenic_region ; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53800.1 upstream_gene_variant ; 2614.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53800.2 upstream_gene_variant ; 1277.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53800.3 upstream_gene_variant ; 2610.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53800.5 upstream_gene_variant ; 2610.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53800.4 upstream_gene_variant ; 3254.0bp to feature; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 N N N N
vg0330850428 T -> TTC LOC_Os03g53790-LOC_Os03g53800 intergenic_region ; MODIFIER silent_mutation Average:88.984; most accessible tissue: Minghui63 young leaf, score: 96.681 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)
vg0330850428 T C 0.0 0.0 0.01 0.0 0.0 -0.01
vg0330850428 T TTC 0.34 0.15 0.07 -0.15 0.07 0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0330850428 4.48E-06 NA mr1210 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
vg0330850428 NA 2.85E-07 mr1210 Jap_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
vg0330850428 6.00E-06 NA mr1300 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
vg0330850428 NA 8.97E-06 mr1305 Jap_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
vg0330850428 1.23E-06 NA mr1310 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
vg0330850428 8.82E-07 NA mr1586 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
vg0330850428 NA 1.02E-06 mr1586 Jap_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
vg0330850428 9.91E-07 NA mr1926 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
vg0330850428 2.02E-11 3.24E-33 mr1310_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
vg0330850428 NA 5.36E-11 mr1310_2 Jap_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
vg0330850428 7.23E-06 NA 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
vg0330850428 8.64E-07 NA mr1672_2 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
vg0330850428 NA 1.26E-06 mr1672_2 Jap_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
vg0330850428 6.55E-06 NA 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
vg0330850428 1.10E-10 2.12E-20 mr1959_2 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
vg0330850428 1.10E-06 4.99E-11 mr1959_2 Jap_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