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Detailed information for vg0502151253:

Variant ID: vg0502151253 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 2151253
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATGATTGTAAAACACAGGAATGGTCATTTGATTAGAGCGCAGGAAAAACGCAGGAATCGGATGAGAGAGATAGACTCAAAGGAAATTTTTCAAGAGGTT[A/G]
GAGCTCTTGCTAAATTTTCTTCAAAATCCACATGCAATGTACTATTTTATAGGAATTTCATAAGATTTGGAAAGCTTCAATCCTTTGAATCAAAGGAACA

Reverse complement sequence

TGTTCCTTTGATTCAAAGGATTGAAGCTTTCCAAATCTTATGAAATTCCTATAAAATAGTACATTGCATGTGGATTTTGAAGAAAATTTAGCAAGAGCTC[T/C]
AACCTCTTGAAAAATTTCCTTTGAGTCTATCTCTCTCATCCGATTCCTGCGTTTTTCCTGCGCTCTAATCAAATGACCATTCCTGTGTTTTACAATCATC

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 61.10% 38.80% 0.08% 0.00% NA
All Indica  2759 92.70% 7.20% 0.11% 0.00% NA
All Japonica  1512 5.20% 94.70% 0.07% 0.00% NA
Aus  269 49.10% 50.90% 0.00% 0.00% NA
Indica I  595 96.30% 3.50% 0.17% 0.00% NA
Indica II  465 92.90% 6.90% 0.22% 0.00% NA
Indica III  913 91.50% 8.40% 0.11% 0.00% NA
Indica Intermediate  786 91.20% 8.80% 0.00% 0.00% NA
Temperate Japonica  767 3.00% 96.90% 0.13% 0.00% NA
Tropical Japonica  504 6.00% 94.00% 0.00% 0.00% NA
Japonica Intermediate  241 10.80% 89.20% 0.00% 0.00% NA
VI/Aromatic  96 84.40% 15.60% 0.00% 0.00% NA
Intermediate  90 41.10% 58.90% 0.00% 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
vg0502151253 A -> G LOC_Os05g04584.1 downstream_gene_variant ; 974.0bp to feature; MODIFIER silent_mutation Average:52.531; most accessible tissue: Zhenshan97 young leaf, score: 82.31 N N N N
vg0502151253 A -> G LOC_Os05g04584-LOC_Os05g04600 intergenic_region ; MODIFIER silent_mutation Average:52.531; most accessible tissue: Zhenshan97 young leaf, score: 82.31 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)
vg0502151253 A G -0.02 -0.03 -0.03 -0.02 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0502151253 NA 1.28E-06 mr1285 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
vg0502151253 3.11E-06 6.82E-06 mr1571 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
vg0502151253 NA 9.28E-07 mr1718 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
vg0502151253 NA 2.05E-09 mr1746 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
vg0502151253 NA 2.28E-06 mr1761 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
vg0502151253 NA 5.45E-07 mr1819_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