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Detailed information for vg0232914706:

Variant ID: vg0232914706 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 32914706
Reference Allele: TAlternative Allele: A
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.01, others allele: 0.00, population size: 268. )

Flanking Sequence (100 bp) in Reference Genome:


TATTAGGGCTTAAGATGTACGGGCAATACGACAATGAACAATTGATTTTTAACTGGAAAAATTGAAAGTTTGGTTGAAATTGGAACGATGTGATGGAAAA[T/A]
TTGAAAGTTTGTGTGTAGCCGTGTAAGAAAGTTTTGATGTGATGGAAAAATTGAAAGTTTGAAGAAAAAATTTGGAACTAAACTCGGCCTGACATGTGAT

Reverse complement sequence

ATCACATGTCAGGCCGAGTTTAGTTCCAAATTTTTTCTTCAAACTTTCAATTTTTCCATCACATCAAAACTTTCTTACACGGCTACACACAAACTTTCAA[A/T]
TTTTCCATCACATCGTTCCAATTTCAACCAAACTTTCAATTTTTCCAGTTAAAAATCAATTGTTCATTGTCGTATTGCCCGTACATCTTAAGCCCTAATA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.60% 22.40% 1.99% 0.00% NA
All Indica  2759 98.70% 0.90% 0.33% 0.00% NA
All Japonica  1512 29.60% 65.00% 5.36% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.70% 0.00% 0.34% 0.00% NA
Indica II  465 97.60% 2.20% 0.22% 0.00% NA
Indica III  913 98.90% 0.90% 0.22% 0.00% NA
Indica Intermediate  786 98.50% 1.00% 0.51% 0.00% NA
Temperate Japonica  767 36.20% 54.10% 9.65% 0.00% NA
Tropical Japonica  504 4.20% 95.80% 0.00% 0.00% NA
Japonica Intermediate  241 61.80% 35.30% 2.90% 0.00% NA
VI/Aromatic  96 83.30% 16.70% 0.00% 0.00% NA
Intermediate  90 56.70% 38.90% 4.44% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0232914706 T -> A LOC_Os02g53740.2 downstream_gene_variant ; 934.0bp to feature; MODIFIER silent_mutation Average:72.855; most accessible tissue: Zhenshan97 flag leaf, score: 88.918 N N N N
vg0232914706 T -> A LOC_Os02g53750.1 downstream_gene_variant ; 602.0bp to feature; MODIFIER silent_mutation Average:72.855; most accessible tissue: Zhenshan97 flag leaf, score: 88.918 N N N N
vg0232914706 T -> A LOC_Os02g53740.3 downstream_gene_variant ; 934.0bp to feature; MODIFIER silent_mutation Average:72.855; most accessible tissue: Zhenshan97 flag leaf, score: 88.918 N N N N
vg0232914706 T -> A LOC_Os02g53750.2 downstream_gene_variant ; 602.0bp to feature; MODIFIER silent_mutation Average:72.855; most accessible tissue: Zhenshan97 flag leaf, score: 88.918 N N N N
vg0232914706 T -> A LOC_Os02g53740-LOC_Os02g53750 intergenic_region ; MODIFIER silent_mutation Average:72.855; most accessible tissue: Zhenshan97 flag leaf, score: 88.918 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)
vg0232914706 T A 0.02 0.01 0.01 0.0 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0232914706 NA 1.02E-08 Yield Jap_All YES 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
vg0232914706 NA 2.77E-14 mr1062 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
vg0232914706 NA 9.52E-09 mr1585 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
vg0232914706 NA 2.06E-11 mr1623 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
vg0232914706 NA 1.30E-11 mr1626 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
vg0232914706 NA 4.97E-11 mr1905 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
vg0232914706 NA 2.64E-19 mr1062_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
vg0232914706 NA 1.72E-09 mr1354_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
vg0232914706 NA 9.74E-08 mr1585_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
vg0232914706 NA 6.02E-07 mr1623_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
vg0232914706 NA 2.90E-11 mr1705_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
vg0232914706 NA 5.51E-11 mr1761_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
vg0232914706 NA 2.18E-08 mr1765_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