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Detailed information for vg0726479963:

Variant ID: vg0726479963 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 26479963
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.02, others allele: 0.00, population size: 109. )

Flanking Sequence (100 bp) in Reference Genome:


AGGGACATGTGCTGGCCCATGTAGTAGTCCTTTTGCTTAGACAACAAGAAAGAACGGCGTCTGAAGAAATGGTTTTTGCAGAACCGTGTAACTTTTTTTT[A/T]
AAAAAAGAGAATCGCAACTTAAAAGGTTTATGTTCCCTCTTCATGAGAGTGTACTTATCTTATGTTTTTTACATTGTGTTTTGTATCACATGAATGATTA

Reverse complement sequence

TAATCATTCATGTGATACAAAACACAATGTAAAAAACATAAGATAAGTACACTCTCATGAAGAGGGAACATAAACCTTTTAAGTTGCGATTCTCTTTTTT[T/A]
AAAAAAAAGTTACACGGTTCTGCAAAAACCATTTCTTCAGACGCCGTTCTTTCTTGTTGTCTAAGCAAAAGGACTACTACATGGGCCAGCACATGTCCCT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.00% 10.50% 0.93% 5.56% NA
All Indica  2759 96.50% 2.90% 0.40% 0.18% NA
All Japonica  1512 59.90% 25.70% 0.93% 13.49% NA
Aus  269 71.70% 4.10% 6.69% 17.47% NA
Indica I  595 90.60% 9.20% 0.17% 0.00% NA
Indica II  465 99.60% 0.20% 0.00% 0.22% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 95.80% 2.40% 1.27% 0.51% NA
Temperate Japonica  767 94.70% 4.30% 0.26% 0.78% NA
Tropical Japonica  504 10.90% 63.10% 0.79% 25.20% NA
Japonica Intermediate  241 51.90% 15.40% 3.32% 29.46% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 75.60% 16.70% 1.11% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0726479963 A -> DEL N N silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 N N N N
vg0726479963 A -> T LOC_Os07g44320.1 upstream_gene_variant ; 1635.0bp to feature; MODIFIER silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 N N N N
vg0726479963 A -> T LOC_Os07g44330.1 downstream_gene_variant ; 1283.0bp to feature; MODIFIER silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 N N N N
vg0726479963 A -> T LOC_Os07g44330.3 downstream_gene_variant ; 1283.0bp to feature; MODIFIER silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 N N N N
vg0726479963 A -> T LOC_Os07g44330.2 downstream_gene_variant ; 1283.0bp to feature; MODIFIER silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 N N N N
vg0726479963 A -> T LOC_Os07g44320-LOC_Os07g44330 intergenic_region ; MODIFIER silent_mutation Average:79.779; most accessible tissue: Zhenshan97 young leaf, score: 97.112 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)
vg0726479963 A T -0.03 -0.01 -0.01 -0.01 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0726479963 NA 7.30E-08 mr1397_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
vg0726479963 NA 7.24E-10 mr1578_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
vg0726479963 NA 2.54E-06 mr1819_2 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
vg0726479963 NA 1.19E-09 mr1851_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
vg0726479963 NA 9.45E-16 mr1864_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
vg0726479963 NA 1.72E-06 mr1966_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