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Detailed information for vg0806011712:

Variant ID: vg0806011712 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 6011712
Reference Allele: AAlternative Allele: G,C
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCCATGATGGTAACATGCTAATTACCTTTATGTTTAACATACTCCATTCATCTTAAAAAAATAACCTAAAATTAAGATCAATTTTACGGACCTTGAGGAG[A/G,C]
TACCATGAGGTACCATTTTTTCTATTGTAAATTTGGTACCTCGTGGTACCTAGGTACTATGAGGTGGTACCAAATTTTACACTAAAATTTTGGTACCTCA

Reverse complement sequence

TGAGGTACCAAAATTTTAGTGTAAAATTTGGTACCACCTCATAGTACCTAGGTACCACGAGGTACCAAATTTACAATAGAAAAAATGGTACCTCATGGTA[T/C,G]
CTCCTCAAGGTCCGTAAAATTGATCTTAATTTTAGGTTATTTTTTTAAGATGAATGGAGTATGTTAAACATAAAGGTAATTAGCATGTTACCATCATGGG

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 69.80% 18.50% 0.89% 10.73% C: 0.02%
All Indica  2759 72.70% 11.90% 0.54% 14.90% C: 0.04%
All Japonica  1512 63.20% 34.50% 1.59% 0.73% NA
Aus  269 71.40% 3.70% 1.12% 23.79% NA
Indica I  595 97.60% 0.30% 0.17% 1.85% NA
Indica II  465 61.10% 7.10% 0.86% 30.97% NA
Indica III  913 59.70% 22.70% 0.77% 16.76% C: 0.11%
Indica Intermediate  786 75.70% 10.80% 0.38% 13.10% NA
Temperate Japonica  767 62.20% 35.50% 2.35% 0.00% NA
Tropical Japonica  504 69.00% 29.00% 0.79% 1.19% NA
Japonica Intermediate  241 54.40% 42.70% 0.83% 2.07% NA
VI/Aromatic  96 82.30% 3.10% 0.00% 14.58% NA
Intermediate  90 75.60% 16.70% 0.00% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0806011712 A -> G LOC_Os08g10304.1 upstream_gene_variant ; 4638.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> G LOC_Os08g10310.1 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> G LOC_Os08g10310.2 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> G LOC_Os08g10310.3 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> G LOC_Os08g10304-LOC_Os08g10310 intergenic_region ; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> C LOC_Os08g10304.1 upstream_gene_variant ; 4638.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> C LOC_Os08g10310.1 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> C LOC_Os08g10310.2 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> C LOC_Os08g10310.3 upstream_gene_variant ; 4033.0bp to feature; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> C LOC_Os08g10304-LOC_Os08g10310 intergenic_region ; MODIFIER silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 N N N N
vg0806011712 A -> DEL N N silent_mutation Average:50.131; most accessible tissue: Callus, score: 95.2 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)
vg0806011712 A C 0.04 0.02 0.01 0.02 0.01 -0.01
vg0806011712 A G -0.01 -0.01 -0.01 0.03 0.0 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0806011712 3.82E-06 9.57E-06 mr1186 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
vg0806011712 NA 9.10E-07 mr1186 Jap_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
vg0806011712 5.96E-07 5.96E-07 mr1197 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
vg0806011712 NA 2.66E-06 mr1482 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
vg0806011712 NA 2.49E-06 mr1622 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
vg0806011712 NA 8.09E-06 mr1958 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