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Detailed information for vg1222240997:

Variant ID: vg1222240997 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 22240997
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTACTATGGCAGTTTGAAAATGCTATTTAAACAATGGTTTTAAATAAATCTACACATTTAAGACTCCTTTGAATCACAGAAATAAAGAAATGAAAAAAT[G/A]
GAGAAATAGGAGAAACATAGGATTTAGACAGGAATATAAGTGTAAAACAAAGGATTGTAAAACACAGGAAAAATATAGGAATGACCGTTTGATTGAGCCG

Reverse complement sequence

CGGCTCAATCAAACGGTCATTCCTATATTTTTCCTGTGTTTTACAATCCTTTGTTTTACACTTATATTCCTGTCTAAATCCTATGTTTCTCCTATTTCTC[C/T]
ATTTTTTCATTTCTTTATTTCTGTGATTCAAAGGAGTCTTAAATGTGTAGATTTATTTAAAACCATTGTTTAAATAGCATTTTCAAACTGCCATAGTACG

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 41.80% 28.20% 0.76% 29.22% NA
All Indica  2759 12.60% 46.80% 1.30% 39.22% NA
All Japonica  1512 83.60% 0.50% 0.00% 15.87% NA
Aus  269 78.10% 4.50% 0.00% 17.47% NA
Indica I  595 10.40% 68.60% 0.00% 21.01% NA
Indica II  465 11.80% 50.30% 2.15% 35.70% NA
Indica III  913 13.80% 29.90% 2.08% 54.22% NA
Indica Intermediate  786 13.50% 48.00% 0.89% 37.66% NA
Temperate Japonica  767 87.70% 0.40% 0.00% 11.86% NA
Tropical Japonica  504 77.20% 0.80% 0.00% 22.02% NA
Japonica Intermediate  241 83.80% 0.40% 0.00% 15.77% NA
VI/Aromatic  96 96.90% 2.10% 0.00% 1.04% NA
Intermediate  90 66.70% 21.10% 0.00% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1222240997 G -> DEL N N silent_mutation Average:84.468; most accessible tissue: Minghui63 panicle, score: 94.307 N N N N
vg1222240997 G -> A LOC_Os12g36320.1 downstream_gene_variant ; 1819.0bp to feature; MODIFIER silent_mutation Average:84.468; most accessible tissue: Minghui63 panicle, score: 94.307 N N N N
vg1222240997 G -> A LOC_Os12g36330.1 downstream_gene_variant ; 3767.0bp to feature; MODIFIER silent_mutation Average:84.468; most accessible tissue: Minghui63 panicle, score: 94.307 N N N N
vg1222240997 G -> A LOC_Os12g36320-LOC_Os12g36330 intergenic_region ; MODIFIER silent_mutation Average:84.468; most accessible tissue: Minghui63 panicle, score: 94.307 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)
vg1222240997 G A 0.0 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
vg1222240997 6.48E-06 3.73E-06 mr1160_2 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