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Detailed information for vg0304685909:

Variant ID: vg0304685909 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 4685909
Reference Allele: AAlternative Allele: G,T
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.88, A: 0.11, T: 0.02, others allele: 0.00, population size: 94. )

Flanking Sequence (100 bp) in Reference Genome:


GTTCACGTTAAAATTAAAAGTTTGGTTGAAATTAAAACAATGTGATGAAAAAGTTAGAAGTTTATGTGTGTAGAAAAGTTTTGATGTGATGGAAAAGTTG[A/G,T]
AAGTTTGAAGAAAAAATTTGTAACTAAACTCAGGCCTTATTTTTGGGAGATATAGTGTAGGTCAGCTAGCCAGGATCTTTGCGGTGGAAGTTGTCCACAC

Reverse complement sequence

GTGTGGACAACTTCCACCGCAAAGATCCTGGCTAGCTGACCTACACTATATCTCCCAAAAATAAGGCCTGAGTTTAGTTACAAATTTTTTCTTCAAACTT[T/C,A]
CAACTTTTCCATCACATCAAAACTTTTCTACACACATAAACTTCTAACTTTTTCATCACATTGTTTTAATTTCAACCAAACTTTTAATTTTAACGTGAAC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 28.10% 16.10% 0.28% 49.17% T: 6.35%
All Indica  2759 2.00% 16.70% 0.22% 77.78% T: 3.23%
All Japonica  1512 80.60% 16.50% 0.20% 2.51% T: 0.20%
Aus  269 0.00% 1.90% 0.00% 40.15% T: 57.99%
Indica I  595 1.50% 2.40% 0.17% 95.97% NA
Indica II  465 7.70% 19.40% 0.00% 72.90% NA
Indica III  913 0.00% 21.80% 0.11% 70.97% T: 7.12%
Indica Intermediate  786 1.40% 20.20% 0.51% 74.81% T: 3.05%
Temperate Japonica  767 88.70% 11.00% 0.13% 0.13% T: 0.13%
Tropical Japonica  504 85.50% 6.90% 0.20% 7.14% T: 0.20%
Japonica Intermediate  241 44.80% 53.90% 0.41% 0.41% T: 0.41%
VI/Aromatic  96 16.70% 34.40% 1.04% 4.17% T: 43.75%
Intermediate  90 43.30% 11.10% 3.33% 31.11% T: 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
vg0304685909 A -> T LOC_Os03g09020.1 upstream_gene_variant ; 779.0bp to feature; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> T LOC_Os03g09030.1 upstream_gene_variant ; 3603.0bp to feature; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> T LOC_Os03g09020-LOC_Os03g09030 intergenic_region ; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> DEL N N silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> G LOC_Os03g09020.1 upstream_gene_variant ; 779.0bp to feature; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> G LOC_Os03g09030.1 upstream_gene_variant ; 3603.0bp to feature; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 N N N N
vg0304685909 A -> G LOC_Os03g09020-LOC_Os03g09030 intergenic_region ; MODIFIER silent_mutation Average:64.626; most accessible tissue: Zhenshan97 flower, score: 94.797 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)
vg0304685909 A G 0.0 0.03 0.01 -0.01 0.0 0.0
vg0304685909 A T 0.0 0.08 0.04 0.0 0.0 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0304685909 NA 3.60E-06 mr1180 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
vg0304685909 2.09E-08 6.12E-14 mr1691 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
vg0304685909 NA 1.95E-07 mr1691 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
vg0304685909 NA 4.33E-11 mr1693 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
vg0304685909 NA 1.19E-08 mr1693 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
vg0304685909 NA 5.01E-06 mr1807 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
vg0304685909 5.58E-06 NA mr1117_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
vg0304685909 NA 7.69E-06 mr1117_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
vg0304685909 NA 1.07E-06 mr1183_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
vg0304685909 NA 1.03E-06 mr1496_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
vg0304685909 NA 7.02E-06 mr1519_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
vg0304685909 NA 1.31E-07 mr1594_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
vg0304685909 NA 6.86E-10 mr1691_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
vg0304685909 NA 2.67E-06 mr1691_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