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Detailed information for vg0206498126:

Variant ID: vg0206498126 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 6498126
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGGAGAGGAAGGGAAAGAGAAGAGAGAGAGGAGGCTGACGTGGTCTCCATGACATGTGGGGCCCACGTGGGTCCTACGCTGAGTCAGCCGCTACGTGGGA[C/T]
AAAACCGGGGTGAAAACCGCCGAGGGACCTTTTGTGACCGGTTTTGTAAGTTGGGGGACGCCGGATGTCTGGTTTTACGGTTTAGGGACGATTTTGTATC

Reverse complement sequence

GATACAAAATCGTCCCTAAACCGTAAAACCAGACATCCGGCGTCCCCCAACTTACAAAACCGGTCACAAAAGGTCCCTCGGCGGTTTTCACCCCGGTTTT[G/A]
TCCCACGTAGCGGCTGACTCAGCGTAGGACCCACGTGGGCCCCACATGTCATGGAGACCACGTCAGCCTCCTCTCTCTCTTCTCTTTCCCTTCCTCTCCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 67.00% 5.40% 1.42% 26.26% NA
All Indica  2759 71.20% 0.00% 0.87% 27.87% NA
All Japonica  1512 71.40% 15.80% 2.31% 10.45% NA
Aus  269 6.70% 0.00% 1.49% 91.82% NA
Indica I  595 68.60% 0.00% 1.01% 30.42% NA
Indica II  465 64.90% 0.00% 0.43% 34.62% NA
Indica III  913 78.00% 0.00% 0.99% 21.03% NA
Indica Intermediate  786 69.10% 0.10% 0.89% 29.90% NA
Temperate Japonica  767 92.00% 0.10% 1.96% 5.87% NA
Tropical Japonica  504 44.80% 46.00% 3.57% 5.56% NA
Japonica Intermediate  241 61.40% 2.50% 0.83% 35.27% NA
VI/Aromatic  96 39.60% 5.20% 2.08% 53.12% NA
Intermediate  90 71.10% 8.90% 2.22% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0206498126 C -> T LOC_Os02g12460.1 upstream_gene_variant ; 389.0bp to feature; MODIFIER silent_mutation Average:72.692; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0206498126 C -> T LOC_Os02g12450.1 downstream_gene_variant ; 2990.0bp to feature; MODIFIER silent_mutation Average:72.692; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0206498126 C -> T LOC_Os02g12470.1 downstream_gene_variant ; 4024.0bp to feature; MODIFIER silent_mutation Average:72.692; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0206498126 C -> T LOC_Os02g12460-LOC_Os02g12470 intergenic_region ; MODIFIER silent_mutation Average:72.692; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 N N N N
vg0206498126 C -> DEL N N silent_mutation Average:72.692; most accessible tissue: Zhenshan97 flag leaf, score: 87.755 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)
vg0206498126 C T 0.16 0.1 0.08 0.13 0.15 0.15

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0206498126 NA 2.15E-07 mr1584 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
vg0206498126 NA 6.89E-08 mr1682 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
vg0206498126 NA 4.16E-07 mr1845 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