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Detailed information for vg1122506457:

Variant ID: vg1122506457 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 22506457
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.95, C: 0.05, others allele: 0.00, population size: 218. )

Flanking Sequence (100 bp) in Reference Genome:


TTCTTGCGTTGAGAAATGTAATACATATTAGATATCGAGACAAGCTTATAACTTTGACCATTGTTTTTTTTTAAAGTATATCACTACAAAATTAGCACCT[T/C]
ATGAAAGTATTTTCAAATAAAACTTATGATGATAAAATCCAACTTGTAAAACTAGTTTTACGATATAATCTACTTAGTATCCCCCTCTTACATAACTTAC

Reverse complement sequence

GTAAGTTATGTAAGAGGGGGATACTAAGTAGATTATATCGTAAAACTAGTTTTACAAGTTGGATTTTATCATCATAAGTTTTATTTGAAAATACTTTCAT[A/G]
AGGTGCTAATTTTGTAGTGATATACTTTAAAAAAAAACAATGGTCAAAGTTATAAGCTTGTCTCGATATCTAATATGTATTACATTTCTCAACGCAAGAA

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 53.20% 46.40% 0.30% 0.02% NA
All Indica  2759 34.50% 65.00% 0.47% 0.04% NA
All Japonica  1512 92.20% 7.70% 0.07% 0.00% NA
Aus  269 14.90% 85.10% 0.00% 0.00% NA
Indica I  595 20.20% 79.70% 0.17% 0.00% NA
Indica II  465 49.00% 50.30% 0.65% 0.00% NA
Indica III  913 33.60% 66.20% 0.22% 0.00% NA
Indica Intermediate  786 37.80% 61.20% 0.89% 0.13% NA
Temperate Japonica  767 93.60% 6.40% 0.00% 0.00% NA
Tropical Japonica  504 93.10% 6.70% 0.20% 0.00% NA
Japonica Intermediate  241 85.90% 14.10% 0.00% 0.00% NA
VI/Aromatic  96 83.30% 16.70% 0.00% 0.00% NA
Intermediate  90 55.60% 44.40% 0.00% 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
vg1122506457 T -> DEL N N silent_mutation Average:84.125; most accessible tissue: Zhenshan97 root, score: 95.113 N N N N
vg1122506457 T -> C LOC_Os11g37950.1 downstream_gene_variant ; 3348.0bp to feature; MODIFIER silent_mutation Average:84.125; most accessible tissue: Zhenshan97 root, score: 95.113 N N N N
vg1122506457 T -> C LOC_Os11g37960.1 intron_variant ; MODIFIER silent_mutation Average:84.125; most accessible tissue: Zhenshan97 root, score: 95.113 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)
vg1122506457 T C -0.01 -0.01 -0.01 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1122506457 NA 6.05E-07 mr1066 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
vg1122506457 1.38E-06 1.49E-10 mr1170 Ind_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
vg1122506457 NA 1.75E-09 mr1275 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
vg1122506457 NA 1.59E-06 mr1315 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
vg1122506457 NA 1.52E-06 mr1392 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
vg1122506457 NA 1.44E-06 mr1511 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
vg1122506457 NA 3.85E-06 mr1646 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
vg1122506457 NA 5.50E-07 mr1810 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
vg1122506457 NA 3.42E-06 mr1835 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
vg1122506457 NA 2.55E-07 mr1886 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
vg1122506457 NA 6.19E-07 mr1979 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
vg1122506457 NA 1.54E-11 mr1986 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