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Detailed information for vg0234351024:

Variant ID: vg0234351024 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 34351024
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, G: 0.01, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


CGAACACAAATTCATACATACTTCCTCCGTTTCACAATGTAAGTCGTTCTAGCATTTTTCACATTTATATTGATGATAAAATTTTATCTAGATTCTAAAT[A/G]
TGAGAAATGCTAGAATGACTTACATTGTGAAATGGAGAGAGTAAAAAAGAAAAATAATTCAAAATCATTGGAGGGAAATGGCCAAGCTGTGCGGTCAGCG

Reverse complement sequence

CGCTGACCGCACAGCTTGGCCATTTCCCTCCAATGATTTTGAATTATTTTTCTTTTTTACTCTCTCCATTTCACAATGTAAGTCATTCTAGCATTTCTCA[T/C]
ATTTAGAATCTAGATAAAATTTTATCATCAATATAAATGTGAAAAATGCTAGAACGACTTACATTGTGAAACGGAGGAAGTATGTATGAATTTGTGTTCG

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 85.50% 7.60% 1.93% 4.97% NA
All Indica  2759 76.40% 12.80% 2.97% 7.83% NA
All Japonica  1512 99.60% 0.10% 0.13% 0.20% NA
Aus  269 94.10% 0.00% 1.86% 4.09% NA
Indica I  595 93.30% 0.00% 4.03% 2.69% NA
Indica II  465 54.20% 28.80% 4.09% 12.90% NA
Indica III  913 75.60% 14.30% 2.19% 7.89% NA
Indica Intermediate  786 77.90% 11.10% 2.42% 8.65% NA
Temperate Japonica  767 99.50% 0.10% 0.26% 0.13% NA
Tropical Japonica  504 99.80% 0.00% 0.00% 0.20% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 87.80% 5.60% 2.22% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0234351024 A -> G LOC_Os02g56130.1 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> G LOC_Os02g56120.1 downstream_gene_variant ; 1168.0bp to feature; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> G LOC_Os02g56140.1 downstream_gene_variant ; 2706.0bp to feature; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> G LOC_Os02g56120.2 downstream_gene_variant ; 1168.0bp to feature; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> G LOC_Os02g56120.3 downstream_gene_variant ; 1168.0bp to feature; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> G LOC_Os02g56120-LOC_Os02g56130 intergenic_region ; MODIFIER silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 N N N N
vg0234351024 A -> DEL N N silent_mutation Average:97.454; most accessible tissue: Callus, score: 99.375 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)
vg0234351024 A G -0.01 0.0 0.0 0.0 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0234351024 NA 3.23E-06 mr1032 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
vg0234351024 NA 5.44E-06 mr1165 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
vg0234351024 NA 4.69E-06 mr1478 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
vg0234351024 NA 4.34E-06 mr1564 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
vg0234351024 NA 1.49E-06 mr1627 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
vg0234351024 NA 2.67E-07 mr1829 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
vg0234351024 NA 1.05E-11 mr1829 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
vg0234351024 NA 6.96E-08 mr1842 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
vg0234351024 NA 1.18E-08 mr1902 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
vg0234351024 4.47E-06 4.46E-06 mr1473_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
vg0234351024 NA 7.96E-10 mr1478_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
vg0234351024 NA 4.02E-09 mr1715_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
vg0234351024 2.38E-06 2.38E-06 mr1848_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
vg0234351024 NA 9.30E-06 mr1971_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