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Detailed information for vg1211581493:

Variant ID: vg1211581493 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 11581493
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 281. )

Flanking Sequence (100 bp) in Reference Genome:


GTCAGATGAAGGTTTCTCCGAGGAGTAGGCTTCGTCCGTGCCGTCGAGGATGCCTGTGGAGTGGTGTTCCCGCTGCAGTTTTAGTCATGGCTTAGCTCCT[G/T]
TTGTCTTTCTTTTCTTCCGCTGCATTTTTGTAAGACTTTTATGATGTTTGTAAGACGTGGATCTGAATGTCAACATTGTCGTTTGTGTACCCCGGCTGGT

Reverse complement sequence

ACCAGCCGGGGTACACAAACGACAATGTTGACATTCAGATCCACGTCTTACAAACATCATAAAAGTCTTACAAAAATGCAGCGGAAGAAAAGAAAGACAA[C/A]
AGGAGCTAAGCCATGACTAAAACTGCAGCGGGAACACCACTCCACAGGCATCCTCGACGGCACGGACGAAGCCTACTCCTCGGAGAAACCTTCATCTGAC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.50% 5.90% 1.59% 0.00% NA
All Indica  2759 99.60% 0.10% 0.22% 0.00% NA
All Japonica  1512 77.60% 18.10% 4.37% 0.00% NA
Aus  269 99.30% 0.00% 0.74% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 98.70% 0.40% 0.86% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 99.60% 0.10% 0.25% 0.00% NA
Temperate Japonica  767 97.30% 0.80% 1.96% 0.00% NA
Tropical Japonica  504 40.30% 50.80% 8.93% 0.00% NA
Japonica Intermediate  241 92.90% 4.60% 2.49% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 4.40% 1.11% 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
vg1211581493 G -> T LOC_Os12g19860.1 upstream_gene_variant ; 4939.0bp to feature; MODIFIER silent_mutation Average:60.81; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1211581493 G -> T LOC_Os12g19870.1 upstream_gene_variant ; 2022.0bp to feature; MODIFIER silent_mutation Average:60.81; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1211581493 G -> T LOC_Os12g19880.1 upstream_gene_variant ; 1381.0bp to feature; MODIFIER silent_mutation Average:60.81; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1211581493 G -> T LOC_Os12g19890.1 downstream_gene_variant ; 4162.0bp to feature; MODIFIER silent_mutation Average:60.81; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 N N N N
vg1211581493 G -> T LOC_Os12g19870-LOC_Os12g19880 intergenic_region ; MODIFIER silent_mutation Average:60.81; most accessible tissue: Zhenshan97 flag leaf, score: 87.846 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)
vg1211581493 G T -0.01 -0.01 -0.01 -0.02 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1211581493 NA 1.52E-06 mr1083 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
vg1211581493 NA 2.26E-07 mr1159 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
vg1211581493 NA 6.71E-06 mr1226 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
vg1211581493 NA 1.10E-06 mr1304 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
vg1211581493 NA 2.84E-07 mr1345 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
vg1211581493 NA 8.09E-06 mr1364 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
vg1211581493 NA 2.13E-06 mr1414 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
vg1211581493 NA 6.59E-06 mr1427 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
vg1211581493 6.95E-07 6.95E-07 mr1528 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
vg1211581493 NA 2.51E-08 mr1622 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
vg1211581493 NA 1.20E-07 mr1653 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
vg1211581493 NA 2.26E-08 mr1696 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
vg1211581493 NA 3.88E-07 mr1700 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