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Detailed information for vg0434891799:

Variant ID: vg0434891799 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 34891799
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.95, C: 0.05, others allele: 0.00, population size: 74. )

Flanking Sequence (100 bp) in Reference Genome:


TGTTTGAAAATGACACAGTTGGACATGGCCCATGGACAAGTGGACTTTGACACAGATTTGTGTTGCAATATTCGGCAAACATAGCTAGCTTACTGTAAAT[G/C]
TGTAATAAATCATATCGATTTACTTATAGTCCGTATGATCGTCGCCGAGGTCTGCCGTGACGACGTCGACGAGGAAGTCGAAGAGATCGGTGTTCTGCAC

Reverse complement sequence

GTGCAGAACACCGATCTCTTCGACTTCCTCGTCGACGTCGTCACGGCAGACCTCGGCGACGATCATACGGACTATAAGTAAATCGATATGATTTATTACA[C/G]
ATTTACAGTAAGCTAGCTATGTTTGCCGAATATTGCAACACAAATCTGTGTCAAAGTCCACTTGTCCATGGGCCATGTCCAACTGTGTCATTTTCAAACA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.10% 3.80% 0.11% 0.00% NA
All Indica  2759 98.60% 1.30% 0.11% 0.00% NA
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 62.10% 37.90% 0.00% 0.00% NA
Indica I  595 99.70% 0.20% 0.17% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 99.20% 0.80% 0.00% 0.00% NA
Indica Intermediate  786 96.60% 3.20% 0.25% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 66.70% 33.30% 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
vg0434891799 G -> C LOC_Os04g58690.1 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58690.2 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58690.3 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58690.5 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58690.6 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58690.4 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58680.1 downstream_gene_variant ; 20.0bp to feature; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 N N N N
vg0434891799 G -> C LOC_Os04g58650-LOC_Os04g58680 intergenic_region ; MODIFIER silent_mutation Average:91.722; most accessible tissue: Zhenshan97 root, score: 96.68 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)
vg0434891799 G C 0.04 0.07 0.06 0.03 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0434891799 NA 2.85E-07 mr1006 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
vg0434891799 NA 7.58E-06 mr1007 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
vg0434891799 NA 2.68E-07 mr1052 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
vg0434891799 NA 3.62E-06 mr1073 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
vg0434891799 NA 7.05E-07 mr1126 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
vg0434891799 1.79E-07 2.51E-17 mr1158 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
vg0434891799 NA 7.60E-06 mr1230 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
vg0434891799 NA 5.95E-06 mr1621 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
vg0434891799 NA 7.53E-07 mr1762 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
vg0434891799 NA 3.11E-06 mr1346_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
vg0434891799 NA 3.67E-06 mr1508_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
vg0434891799 NA 6.02E-06 mr1577_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