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Detailed information for vg0203460456:

Variant ID: vg0203460456 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 3460456
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 277. )

Flanking Sequence (100 bp) in Reference Genome:


ATTAGTAAGCTGTTTAAATTACAATTAAAGCGGCCAGTGTGTGTAATTATGTGGGGGTGGAAACAAAGCTGTTAGCGATATTATCGCTTGCGGTGTTTAT[C/G]
TCTTTCTGTTTTATCCGATCTCTCCTCCTAATCCTCCCGATTCTGTTGTTATAAGTCGGTTGAGTGGTTAAGGTATGGATGAGGTCTATATGTATACATG

Reverse complement sequence

CATGTATACATATAGACCTCATCCATACCTTAACCACTCAACCGACTTATAACAACAGAATCGGGAGGATTAGGAGGAGAGATCGGATAAAACAGAAAGA[G/C]
ATAAACACCGCAAGCGATAATATCGCTAACAGCTTTGTTTCCACCCCCACATAATTACACACACTGGCCGCTTTAATTGTAATTTAAACAGCTTACTAAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.10% 7.40% 0.44% 0.00% NA
All Indica  2759 99.70% 0.30% 0.00% 0.00% NA
All Japonica  1512 79.40% 19.30% 1.32% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 75.90% 22.20% 1.96% 0.00% NA
Tropical Japonica  504 91.70% 7.70% 0.60% 0.00% NA
Japonica Intermediate  241 64.70% 34.40% 0.83% 0.00% NA
VI/Aromatic  96 54.20% 44.80% 1.04% 0.00% NA
Intermediate  90 91.10% 8.90% 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
vg0203460456 C -> G LOC_Os02g06870.1 upstream_gene_variant ; 233.0bp to feature; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 N N N N
vg0203460456 C -> G LOC_Os02g06840.1 downstream_gene_variant ; 2868.0bp to feature; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 N N N N
vg0203460456 C -> G LOC_Os02g06850.1 downstream_gene_variant ; 1823.0bp to feature; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 N N N N
vg0203460456 C -> G LOC_Os02g06860.1 downstream_gene_variant ; 151.0bp to feature; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 N N N N
vg0203460456 C -> G LOC_Os02g06840.2 downstream_gene_variant ; 2868.0bp to feature; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 N N N N
vg0203460456 C -> G LOC_Os02g06860-LOC_Os02g06870 intergenic_region ; MODIFIER silent_mutation Average:78.522; most accessible tissue: Callus, score: 87.783 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)
vg0203460456 C G -0.05 -0.02 -0.02 -0.02 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0203460456 NA 1.25E-18 Awn_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0203460456 5.82E-08 5.82E-08 mr1008 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
vg0203460456 1.47E-08 1.47E-08 mr1009 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
vg0203460456 2.52E-06 NA mr1014 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
vg0203460456 2.32E-07 2.32E-07 mr1014 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
vg0203460456 5.63E-06 NA mr1015 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
vg0203460456 1.99E-06 1.99E-06 mr1015 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
vg0203460456 NA 9.12E-06 mr1242 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
vg0203460456 NA 4.60E-06 mr1298 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
vg0203460456 NA 4.74E-06 mr1731 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
vg0203460456 NA 5.58E-06 mr1917 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
vg0203460456 3.86E-06 NA mr1008_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
vg0203460456 NA 2.58E-06 mr1008_2 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