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Detailed information for vg0626294821:

Variant ID: vg0626294821 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 26294821
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 241. )

Flanking Sequence (100 bp) in Reference Genome:


AAAACAGGGGGCGAAAAATGTACTATGTGATTAGGGCGTTCACGGTGGACTTACGTGACGTTCAGCCTCGCCCTCCCTAGTCTGCAAAGGAAAAAGCACA[C/T]
GCCACGTTTGCTTCTGGGCCCAAAAAAAAGTTTTTGTGTCCAAAGTTTGCCACCGGGTTCTTGGAAGAAGCTACTCATTTGTGTGGAGAGAAGCTAATAG

Reverse complement sequence

CTATTAGCTTCTCTCCACACAAATGAGTAGCTTCTTCCAAGAACCCGGTGGCAAACTTTGGACACAAAAACTTTTTTTTGGGCCCAGAAGCAAACGTGGC[G/A]
TGTGCTTTTTCCTTTGCAGACTAGGGAGGGCGAGGCTGAACGTCACGTAAGTCCACCGTGAACGCCCTAATCACATAGTACATTTTTCGCCCCCTGTTTT

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 79.90% 20.00% 0.11% 0.00% NA
All Indica  2759 66.10% 33.70% 0.18% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 98.10% 1.90% 0.00% 0.00% NA
Indica I  595 88.20% 11.60% 0.17% 0.00% NA
Indica II  465 44.10% 55.90% 0.00% 0.00% NA
Indica III  913 59.00% 40.60% 0.33% 0.00% NA
Indica Intermediate  786 70.60% 29.30% 0.13% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 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
vg0626294821 C -> T LOC_Os06g43680.1 upstream_gene_variant ; 1858.0bp to feature; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 root, score: 87.281 N N N N
vg0626294821 C -> T LOC_Os06g43670.1 downstream_gene_variant ; 2476.0bp to feature; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 root, score: 87.281 N N N N
vg0626294821 C -> T LOC_Os06g43670-LOC_Os06g43680 intergenic_region ; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 root, score: 87.281 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)
vg0626294821 C T -0.1 -0.05 -0.04 -0.01 -0.05 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0626294821 NA 1.57E-06 mr1051 Ind_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
vg0626294821 NA 7.73E-06 mr1170 Ind_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
vg0626294821 NA 2.04E-07 mr1378 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
vg0626294821 NA 3.97E-06 mr1378 Ind_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
vg0626294821 NA 4.19E-08 mr1536 Ind_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
vg0626294821 NA 1.42E-06 mr1568 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
vg0626294821 NA 4.51E-06 mr1749 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
vg0626294821 NA 1.75E-06 mr1310_2 Ind_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
vg0626294821 NA 7.00E-10 mr1498_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
vg0626294821 NA 5.25E-07 mr1498_2 Ind_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
vg0626294821 NA 1.57E-06 mr1536_2 Ind_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
vg0626294821 3.91E-06 NA mr1795_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
vg0626294821 NA 8.56E-06 mr1942_2 Ind_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
vg0626294821 NA 5.59E-07 mr1974_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