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Detailed information for vg0202138338:

Variant ID: vg0202138338 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 2138338
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.70, A: 0.30, others allele: 0.00, population size: 254. )

Flanking Sequence (100 bp) in Reference Genome:


TGATGTCGAGCTTGGGACGGTGTGGCCAGAGGTCAAGTGTGGGGATGGTGCCAAGTGCCAATGGGGATCGAGGTCAAACCTAGGATTACGCAAGCAAAAG[A/G]
CTGAACTCAACGATGAAGGTTGAGGTTGAGCTAGCTGCCCGAGGACAGTGGCAACGGGGCACCGATGGAGGTTGAGCGAGCTAGTGACCAGGGCACATTG

Reverse complement sequence

CAATGTGCCCTGGTCACTAGCTCGCTCAACCTCCATCGGTGCCCCGTTGCCACTGTCCTCGGGCAGCTAGCTCAACCTCAACCTTCATCGTTGAGTTCAG[T/C]
CTTTTGCTTGCGTAATCCTAGGTTTGACCTCGATCCCCATTGGCACTTGGCACCATCCCCACACTTGACCTCTGGCCACACCGTCCCAAGCTCGACATCA

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 53.30% 46.70% 0.00% 0.00% NA
All Indica  2759 86.10% 13.90% 0.00% 0.00% NA
All Japonica  1512 0.70% 99.30% 0.00% 0.00% NA
Aus  269 2.20% 97.80% 0.00% 0.00% NA
Indica I  595 78.70% 21.30% 0.00% 0.00% NA
Indica II  465 96.60% 3.40% 0.00% 0.00% NA
Indica III  913 84.40% 15.60% 0.00% 0.00% NA
Indica Intermediate  786 87.50% 12.50% 0.00% 0.00% NA
Temperate Japonica  767 0.10% 99.90% 0.00% 0.00% NA
Tropical Japonica  504 0.40% 99.60% 0.00% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 36.70% 63.30% 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
vg0202138338 A -> G LOC_Os02g04710.1 upstream_gene_variant ; 1236.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04720.1 upstream_gene_variant ; 2353.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04710.2 upstream_gene_variant ; 2475.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04725.1 downstream_gene_variant ; 3438.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04725.3 downstream_gene_variant ; 3299.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04725.2 downstream_gene_variant ; 3308.0bp to feature; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 N N N N
vg0202138338 A -> G LOC_Os02g04710-LOC_Os02g04720 intergenic_region ; MODIFIER silent_mutation Average:76.463; most accessible tissue: Zhenshan97 young leaf, score: 91.689 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)
vg0202138338 A G -0.01 0.0 -0.01 0.0 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0202138338 NA 2.65E-09 mr1151 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
vg0202138338 5.03E-06 3.03E-06 mr1229 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
vg0202138338 NA 1.75E-08 mr1249 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
vg0202138338 NA 5.14E-09 mr1260 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
vg0202138338 NA 3.81E-16 mr1261 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
vg0202138338 6.50E-06 NA mr1314 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
vg0202138338 6.55E-06 6.55E-06 mr1421 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
vg0202138338 7.20E-06 NA mr1433 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
vg0202138338 NA 6.21E-29 mr1638 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
vg0202138338 NA 2.09E-10 mr1714 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
vg0202138338 9.05E-06 9.06E-06 mr1724 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
vg0202138338 NA 9.95E-07 mr1743 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
vg0202138338 NA 1.01E-13 mr1807 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
vg0202138338 NA 5.41E-22 mr1164_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
vg0202138338 NA 5.58E-09 mr1751_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
vg0202138338 NA 2.62E-09 mr1851_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