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Detailed information for vg0317009541:

Variant ID: vg0317009541 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 17009541
Reference Allele: TAlternative Allele: TATTTGAC,TATTTGGC,C,TATTTAAC,TCTAAATATTTGAC
Primary Allele: TSecondary Allele: TATTTGAC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGAAAGCGAGTGTTAATTAAGTCGAGCAGGCAGGGACAACCGGACAAGAGACTAACGGACAAGGTCACGAGGTCTCTCTATATATATACTCTCTCCGTCA[T/TATTTGAC,TATTTGGC,C,TATTTAAC,TCTAAATATTTGAC]
GCCGTTGACTTTTTTAAACATGTTTGACCGTTCATCTTATTCAGAAAATTTAAGTAATTTTTAATTCTTTTCGTATCATTTGATTCATTGTTAAATATAT

Reverse complement sequence

ATATATTTAACAATGAATCAAATGATACGAAAAGAATTAAAAATTACTTAAATTTTCTGAATAAGATGAACGGTCAAACATGTTTAAAAAAGTCAACGGC[A/GTCAAATA,GCCAAATA,G,GTTAAATA,GTCAAATATTTAGA]
TGACGGAGAGAGTATATATATAGAGAGACCTCGTGACCTTGTCCGTTAGTCTCTTGTCCGGTTGTCCCTGCCTGCTCGACTTAATTAACACTCGCTTTCA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TATTTGAC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 48.40% 26.20% 0.63% 0.00% TATTTGGC: 18.37%; C: 3.94%; TATTTAAC: 2.43%; TCTAAATATTTGAC: 0.02%
All Indica  2759 34.80% 32.30% 0.72% 0.00% TATTTGGC: 30.84%; TATTTAAC: 1.23%; C: 0.11%
All Japonica  1512 83.50% 3.80% 0.40% 0.00% C: 11.97%; TATTTAAC: 0.20%; TATTTGGC: 0.20%
Aus  269 0.70% 96.70% 1.49% 0.00% TATTTGGC: 0.74%; TATTTAAC: 0.37%
Indica I  595 4.70% 79.50% 1.01% 0.00% TATTTGGC: 12.61%; TATTTAAC: 2.02%; C: 0.17%
Indica II  465 74.40% 6.70% 0.22% 0.00% TATTTGGC: 18.71%
Indica III  913 31.30% 22.00% 0.55% 0.00% TATTTGGC: 45.24%; TATTTAAC: 0.77%; C: 0.11%
Indica Intermediate  786 38.20% 23.70% 1.02% 0.00% TATTTGGC: 35.11%; TATTTAAC: 1.91%; C: 0.13%
Temperate Japonica  767 76.30% 0.10% 0.78% 0.00% C: 22.82%
Tropical Japonica  504 88.50% 10.90% 0.00% 0.00% TATTTGGC: 0.60%
Japonica Intermediate  241 95.90% 0.40% 0.00% 0.00% C: 2.49%; TATTTAAC: 1.24%
VI/Aromatic  96 11.50% 8.30% 0.00% 0.00% TATTTAAC: 76.04%; TATTTGGC: 3.12%; TCTAAATATTTGAC: 1.04%
Intermediate  90 56.70% 26.70% 0.00% 0.00% TATTTGGC: 10.00%; TATTTAAC: 4.44%; C: 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
vg0317009541 T -> C LOC_Os03g29864.1 downstream_gene_variant ; 4857.0bp to feature; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> C LOC_Os03g29850.1 intron_variant ; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TCTAAATATTTGAC LOC_Os03g29864.1 downstream_gene_variant ; 4856.0bp to feature; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TCTAAATATTTGAC LOC_Os03g29850.1 intron_variant ; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTAAC LOC_Os03g29864.1 downstream_gene_variant ; 4856.0bp to feature; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTAAC LOC_Os03g29850.1 intron_variant ; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTGGC LOC_Os03g29864.1 downstream_gene_variant ; 4856.0bp to feature; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTGGC LOC_Os03g29850.1 intron_variant ; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTGAC LOC_Os03g29864.1 downstream_gene_variant ; 4856.0bp to feature; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 N N N N
vg0317009541 T -> TATTTGAC LOC_Os03g29850.1 intron_variant ; MODIFIER silent_mutation Average:92.957; most accessible tissue: Minghui63 root, score: 97.622 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)
vg0317009541 T C -0.02 -0.01 -0.03 0.02 0.01 0.0
vg0317009541 T TATTT* 0.24 0.3 0.04 -0.05 0.2 0.42
vg0317009541 T TCTAA* -0.25 0.32 -0.3 0.03 0.11 0.27

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0317009541 NA 9.98E-20 Grain_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0317009541 NA 2.57E-29 Grain_length Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0317009541 NA 1.42E-06 Spikelet_length Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0317009541 NA 3.70E-06 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
vg0317009541 NA 6.57E-07 mr1245 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
vg0317009541 NA 2.76E-06 mr1280 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
vg0317009541 NA 7.48E-07 mr1286 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
vg0317009541 1.21E-07 1.21E-07 mr1597 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
vg0317009541 NA 1.46E-09 mr1607 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
vg0317009541 NA 2.68E-06 mr1665 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
vg0317009541 NA 3.00E-06 mr1677 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
vg0317009541 NA 9.50E-09 mr1942 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