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Detailed information for vg0122421655:

Variant ID: vg0122421655 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 22421655
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, others allele: 0.00, population size: 51. )

Flanking Sequence (100 bp) in Reference Genome:


AACGATTTATTAGCACGTGATTAATTAAGTATTTGCTATTTTTAAAAAAAAATGGATTATTTTGATTTTTTTAAGCAACTTTCGTATAGAAACTTTTTTT[A/T]
AAAAAAACACACCATTTAGCAGTTTGAAAAGCGTACGCGCGGAAAACGAGGGAGATGGGTTAGGAAAAAGGGGTTGCAAACACACCCAAATTTGTGGTGA

Reverse complement sequence

TCACCACAAATTTGGGTGTGTTTGCAACCCCTTTTTCCTAACCCATCTCCCTCGTTTTCCGCGCGTACGCTTTTCAAACTGCTAAATGGTGTGTTTTTTT[T/A]
AAAAAAAGTTTCTATACGAAAGTTGCTTAAAAAAATCAAAATAATCCATTTTTTTTTAAAAATAGCAAATACTTAATTAATCACGTGCTAATAAATCGTT

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 60.30% 12.10% 1.29% 26.30% NA
All Indica  2759 38.60% 19.20% 0.94% 41.28% NA
All Japonica  1512 93.10% 1.80% 1.98% 3.17% NA
Aus  269 81.40% 0.40% 1.12% 17.10% NA
Indica I  595 6.40% 0.80% 0.84% 91.93% NA
Indica II  465 12.50% 35.90% 1.08% 50.54% NA
Indica III  913 71.50% 22.00% 0.55% 5.91% NA
Indica Intermediate  786 40.20% 19.80% 1.40% 38.55% NA
Temperate Japonica  767 99.60% 0.00% 0.39% 0.00% NA
Tropical Japonica  504 85.30% 1.40% 4.56% 8.73% NA
Japonica Intermediate  241 88.40% 8.30% 1.66% 1.66% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 72.20% 14.40% 2.22% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0122421655 A -> T LOC_Os01g39760.1 downstream_gene_variant ; 3619.0bp to feature; MODIFIER silent_mutation Average:65.524; most accessible tissue: Minghui63 young leaf, score: 95.21 N N N N
vg0122421655 A -> T LOC_Os01g39760-LOC_Os01g39770 intergenic_region ; MODIFIER silent_mutation Average:65.524; most accessible tissue: Minghui63 young leaf, score: 95.21 N N N N
vg0122421655 A -> DEL N N silent_mutation Average:65.524; most accessible tissue: Minghui63 young leaf, score: 95.21 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)
vg0122421655 A T 0.01 0.01 0.01 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0122421655 3.39E-06 1.28E-09 mr1291 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
vg0122421655 NA 9.33E-07 mr1291 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
vg0122421655 NA 3.19E-07 mr1399 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
vg0122421655 NA 2.46E-06 mr1479 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
vg0122421655 1.26E-06 2.36E-09 mr1892 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
vg0122421655 NA 5.94E-06 mr1892 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
vg0122421655 NA 8.67E-06 mr1919 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