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Detailed information for vg0222749778:

Variant ID: vg0222749778 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 22749778
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 241. )

Flanking Sequence (100 bp) in Reference Genome:


CAGCATGTATATGAGCACATGTATGCATACTGTGTTTAAAAAAATTGTCATGAAACTTTCTACCATAATATCAACCTATTATGTATTTTAATATAAAAGT[G/A]
ATGGTTAATATCTTAAAATTTTAATTAAATCTTGCTGTAAACTTTCCATGCTAGCTTATGATTGTAGGGAGGGAGCATATCCTATGCACATAATTTTCCG

Reverse complement sequence

CGGAAAATTATGTGCATAGGATATGCTCCCTCCCTACAATCATAAGCTAGCATGGAAAGTTTACAGCAAGATTTAATTAAAATTTTAAGATATTAACCAT[C/T]
ACTTTTATATTAAAATACATAATAGGTTGATATTATGGTAGAAAGTTTCATGACAATTTTTTTAAACACAGTATGCATACATGTGCTCATATACATGCTG

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 92.70% 6.50% 0.80% 0.00% NA
All Indica  2759 99.60% 0.20% 0.22% 0.00% NA
All Japonica  1512 78.80% 19.20% 1.98% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.50% 0.00% 0.50% 0.00% NA
Indica II  465 99.60% 0.20% 0.22% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 99.50% 0.30% 0.25% 0.00% NA
Temperate Japonica  767 97.10% 1.00% 1.83% 0.00% NA
Tropical Japonica  504 47.80% 49.80% 2.38% 0.00% NA
Japonica Intermediate  241 85.50% 12.90% 1.66% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 86.70% 11.10% 2.22% 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
vg0222749778 G -> A LOC_Os02g37694.1 downstream_gene_variant ; 3345.0bp to feature; MODIFIER silent_mutation Average:64.68; most accessible tissue: Zhenshan97 young leaf, score: 84.431 N N N N
vg0222749778 G -> A LOC_Os02g37694-LOC_Os02g37700 intergenic_region ; MODIFIER silent_mutation Average:64.68; most accessible tissue: Zhenshan97 young leaf, score: 84.431 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)
vg0222749778 G A -0.05 -0.1 -0.06 -0.01 -0.03 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0222749778 NA 2.12E-08 mr1156_2 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
vg0222749778 NA 1.30E-07 mr1261_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
vg0222749778 NA 5.61E-07 mr1422_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
vg0222749778 NA 2.40E-09 mr1905_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