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Detailed information for vg0312035597:

Variant ID: vg0312035597 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 12035597
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


GCGTTTCGCCGCCACACCACCCACCACCAGTCCACCAGGTTGACGTGATGTTAAAGGCGTGAGAAAGCAACGGAGGATTTCGGATTTCGATCTCACGCGC[A/G]
CGGAGAGAACGAGCCGCAGCCGCCCGTCCGTGCCGCCGGCCGTCGTCGAGCTCGGTGAGACGGTGTGGGCATGTGGAGAGAAACACCTGTATCTCCCCCC

Reverse complement sequence

GGGGGGAGATACAGGTGTTTCTCTCCACATGCCCACACCGTCTCACCGAGCTCGACGACGGCCGGCGGCACGGACGGGCGGCTGCGGCTCGTTCTCTCCG[T/C]
GCGCGTGAGATCGAAATCCGAAATCCTCCGTTGCTTTCTCACGCCTTTAACATCACGTCAACCTGGTGGACTGGTGGTGGGTGGTGTGGCGGCGAAACGC

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 80.20% 19.60% 0.21% 0.00% NA
All Indica  2759 98.20% 1.80% 0.00% 0.00% NA
All Japonica  1512 54.80% 44.60% 0.60% 0.00% NA
Aus  269 37.20% 62.80% 0.00% 0.00% NA
Indica I  595 98.80% 1.20% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 98.60% 1.40% 0.00% 0.00% NA
Indica Intermediate  786 96.30% 3.70% 0.00% 0.00% NA
Temperate Japonica  767 21.40% 77.80% 0.78% 0.00% NA
Tropical Japonica  504 93.30% 6.70% 0.00% 0.00% NA
Japonica Intermediate  241 80.50% 18.30% 1.24% 0.00% NA
VI/Aromatic  96 92.70% 7.30% 0.00% 0.00% NA
Intermediate  90 71.10% 27.80% 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
vg0312035597 A -> G LOC_Os03g21130.1 upstream_gene_variant ; 236.0bp to feature; MODIFIER silent_mutation Average:90.919; most accessible tissue: Zhenshan97 panicle, score: 99.722 N N N N
vg0312035597 A -> G LOC_Os03g21130-LOC_Os03g21140 intergenic_region ; MODIFIER silent_mutation Average:90.919; most accessible tissue: Zhenshan97 panicle, score: 99.722 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)
vg0312035597 A G 0.07 0.0 -0.05 -0.02 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0312035597 4.90E-06 NA mr1343 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
vg0312035597 NA 6.25E-11 mr1552 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
vg0312035597 NA 8.45E-06 mr1596 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
vg0312035597 NA 5.42E-06 mr1657 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
vg0312035597 NA 7.89E-08 mr1763 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
vg0312035597 NA 6.87E-06 mr1977 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
vg0312035597 NA 7.10E-10 mr1228_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
vg0312035597 NA 1.72E-08 mr1364_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
vg0312035597 NA 1.01E-13 mr1807_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
vg0312035597 NA 1.08E-10 mr1993_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