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Detailed information for vg0229206992:

Variant ID: vg0229206992 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 29206992
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, A: 0.01, others allele: 0.00, population size: 131. )

Flanking Sequence (100 bp) in Reference Genome:


GGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAGGAGGGGGAGGAGGAGAAGGATCGTGGTGGAGCGGCGGCGGCGGCGGCTGCGATGTCGGCGACG[G/A]
GGGCGTCTTGGCGAGGTGTTTGTTGTTGTGCATCCACACCTTGAGGACGCGGCGGGAGACGCCGACCTGGGCGCAGAACGCGTCGACGGCGGCGGCGTCG

Reverse complement sequence

CGACGCCGCCGCCGTCGACGCGTTCTGCGCCCAGGTCGGCGTCTCCCGCCGCGTCCTCAAGGTGTGGATGCACAACAACAAACACCTCGCCAAGACGCCC[C/T]
CGTCGCCGACATCGCAGCCGCCGCCGCCGCCGCTCCACCACGATCCTTCTCCTCCTCCCCCTCCTCACCACCACCACCACCACCATCACCACCACCACCC

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 84.60% 15.10% 0.28% 0.00% NA
All Indica  2759 74.00% 25.60% 0.43% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 89.10% 10.60% 0.34% 0.00% NA
Indica II  465 62.40% 37.00% 0.65% 0.00% NA
Indica III  913 71.90% 27.70% 0.44% 0.00% NA
Indica Intermediate  786 72.00% 27.60% 0.38% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 90.00% 8.90% 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
vg0229206992 G -> A LOC_Os02g47760.1 downstream_gene_variant ; 2624.0bp to feature; MODIFIER silent_mutation Average:86.576; most accessible tissue: Zhenshan97 panicle, score: 96.832 N N N N
vg0229206992 G -> A LOC_Os02g47770.1 intron_variant ; MODIFIER silent_mutation Average:86.576; most accessible tissue: Zhenshan97 panicle, score: 96.832 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)
vg0229206992 G A -0.02 -0.02 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0229206992 NA 4.09E-07 mr1069 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
vg0229206992 NA 4.94E-07 mr1077 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
vg0229206992 NA 5.20E-06 mr1100 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
vg0229206992 NA 2.60E-06 mr1798 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
vg0229206992 NA 5.22E-07 mr1861 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
vg0229206992 NA 1.17E-07 mr1962 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
vg0229206992 NA 3.98E-08 mr1124_2 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
vg0229206992 NA 6.82E-09 mr1861_2 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