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Detailed information for vg0140632361:

Variant ID: vg0140632361 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 40632361
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGCCATAGATATCCGTGTTTAGCGCTTTGACCATACATCTTATTTGAAAAATTTATAAAAAAATATTAAAACAATTAGTCACACATAAAGTACTATTCAT[A/G]
TTTTATCATCTAATAACAATAAAAATATTAATCATAATATTTTTTTAAATAAGACGAACGGTCAAACGTTGAATATGAACAATGCTAAAACTGCACTTAT

Reverse complement sequence

ATAAGTGCAGTTTTAGCATTGTTCATATTCAACGTTTGACCGTTCGTCTTATTTAAAAAAATATTATGATTAATATTTTTATTGTTATTAGATGATAAAA[T/C]
ATGAATAGTACTTTATGTGTGACTAATTGTTTTAATATTTTTTTATAAATTTTTCAAATAAGATGTATGGTCAAAGCGCTAAACACGGATATCTATGGCT

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 80.00% 12.30% 5.35% 2.31% NA
All Indica  2759 89.70% 0.80% 6.13% 3.37% NA
All Japonica  1512 62.00% 36.20% 1.65% 0.13% NA
Aus  269 77.30% 0.00% 17.84% 4.83% NA
Indica I  595 87.70% 2.50% 5.04% 4.71% NA
Indica II  465 98.50% 0.60% 0.65% 0.22% NA
Indica III  913 88.70% 0.30% 7.34% 3.61% NA
Indica Intermediate  786 87.20% 0.10% 8.78% 3.94% NA
Temperate Japonica  767 46.70% 52.80% 0.39% 0.13% NA
Tropical Japonica  504 81.90% 13.50% 4.37% 0.20% NA
Japonica Intermediate  241 68.90% 31.10% 0.00% 0.00% NA
VI/Aromatic  96 87.50% 4.20% 7.29% 1.04% NA
Intermediate  90 86.70% 8.90% 4.44% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0140632361 A -> G LOC_Os01g70190.1 upstream_gene_variant ; 2855.0bp to feature; MODIFIER silent_mutation Average:58.452; most accessible tissue: Minghui63 root, score: 91.142 N N N N
vg0140632361 A -> G LOC_Os01g70200.1 downstream_gene_variant ; 729.0bp to feature; MODIFIER silent_mutation Average:58.452; most accessible tissue: Minghui63 root, score: 91.142 N N N N
vg0140632361 A -> G LOC_Os01g70190-LOC_Os01g70200 intergenic_region ; MODIFIER silent_mutation Average:58.452; most accessible tissue: Minghui63 root, score: 91.142 N N N N
vg0140632361 A -> DEL N N silent_mutation Average:58.452; most accessible tissue: Minghui63 root, score: 91.142 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)
vg0140632361 A G -0.04 -0.02 -0.01 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0140632361 2.48E-06 NA mr1672 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
vg0140632361 NA 8.46E-06 mr1672 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