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Detailed information for vg0235270915:

Variant ID: vg0235270915 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 35270915
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGTTCCCCAAATTATTTTCCCCAAAACATCACATCGAATCTTTGTACACATACATAAAGTATTAAATATAGATAAAAAGAAAAACTAATTGCACAGTTAT[A/G]
GAGGAAATCGTGAGACAAATCTTTTAAGCCTAATTAATCCGTGATTAGCCATAAGTGCTACAGTAACCCACATGTGCTAATGATGGCTTAATTAGTCTCA

Reverse complement sequence

TGAGACTAATTAAGCCATCATTAGCACATGTGGGTTACTGTAGCACTTATGGCTAATCACGGATTAATTAGGCTTAAAAGATTTGTCTCACGATTTCCTC[T/C]
ATAACTGTGCAATTAGTTTTTCTTTTTATCTATATTTAATACTTTATGTATGTGTACAAAGATTCGATGTGATGTTTTGGGGAAAATAATTTGGGGAACT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.20% 26.20% 2.29% 2.33% NA
All Indica  2759 90.10% 2.70% 3.48% 3.70% NA
All Japonica  1512 24.90% 74.50% 0.40% 0.20% NA
Aus  269 94.80% 2.20% 1.86% 1.12% NA
Indica I  595 92.80% 4.50% 2.02% 0.67% NA
Indica II  465 82.20% 0.90% 5.59% 11.40% NA
Indica III  913 92.00% 3.10% 2.41% 2.52% NA
Indica Intermediate  786 90.60% 2.00% 4.58% 2.80% NA
Temperate Japonica  767 7.70% 91.50% 0.52% 0.26% NA
Tropical Japonica  504 43.30% 56.20% 0.40% 0.20% NA
Japonica Intermediate  241 41.50% 58.50% 0.00% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 67.80% 28.90% 1.11% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0235270915 A -> G LOC_Os02g57590.1 upstream_gene_variant ; 672.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57600.2 upstream_gene_variant ; 4357.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57590.2 upstream_gene_variant ; 672.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57600.1 upstream_gene_variant ; 4227.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57570.1 downstream_gene_variant ; 2085.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57580.1 downstream_gene_variant ; 658.0bp to feature; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> G LOC_Os02g57580-LOC_Os02g57590 intergenic_region ; MODIFIER silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 N N N N
vg0235270915 A -> DEL N N silent_mutation Average:65.825; most accessible tissue: Minghui63 panicle, score: 91.756 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)
vg0235270915 A G 0.0 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0235270915 5.86E-06 2.66E-11 mr1188 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
vg0235270915 NA 2.70E-07 mr1190 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
vg0235270915 NA 1.61E-35 mr1448 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
vg0235270915 NA 7.92E-12 mr1636 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
vg0235270915 NA 1.46E-14 mr1653 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
vg0235270915 NA 1.05E-61 mr1125_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
vg0235270915 NA 4.86E-35 mr1448_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
vg0235270915 1.71E-06 4.33E-07 mr1517_2 Jap_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
vg0235270915 NA 3.39E-57 mr1695_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