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Detailed information for vg0804862466:

Variant ID: vg0804862466 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 4862466
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.71, C: 0.28, others allele: 0.00, population size: 76. )

Flanking Sequence (100 bp) in Reference Genome:


ATACTTCCAGGAAAATGATCGATGAGTAATCGATCTCTTGGCTGGATCTGTTGTGAGCTACGAGCCAAAGAAAATGAGATTAATTCTTCTCCCTGGATTC[C/T]
CAGTTTCATACGATGGATAGAAGTCTTCCCCACGAAGCGTATAGCTGATCGTGGGGGTCAATTTCTCTCTTCTTCTCGCGATTTGCTGATCCATTAATTC

Reverse complement sequence

GAATTAATGGATCAGCAAATCGCGAGAAGAAGAGAGAAATTGACCCCCACGATCAGCTATACGCTTCGTGGGGAAGACTTCTATCCATCGTATGAAACTG[G/A]
GAATCCAGGGAGAAGAATTAATCTCATTTTCTTTGGCTCGTAGCTCACAACAGATCCAGCCAAGAGATCGATTACTCATCGATCATTTTCCTGGAAGTAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 70.00% 19.20% 8.46% 2.41% NA
All Indica  2759 69.30% 25.50% 5.15% 0.11% NA
All Japonica  1512 81.40% 11.80% 0.40% 6.42% NA
Aus  269 32.70% 0.70% 63.57% 2.97% NA
Indica I  595 90.90% 8.60% 0.50% 0.00% NA
Indica II  465 52.50% 40.60% 6.67% 0.22% NA
Indica III  913 67.30% 27.90% 4.71% 0.11% NA
Indica Intermediate  786 65.10% 26.50% 8.27% 0.13% NA
Temperate Japonica  767 89.00% 9.60% 0.00% 1.30% NA
Tropical Japonica  504 76.00% 11.10% 0.79% 12.10% NA
Japonica Intermediate  241 68.50% 19.90% 0.83% 10.79% NA
VI/Aromatic  96 18.80% 3.10% 76.04% 2.08% NA
Intermediate  90 64.40% 22.20% 8.89% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0804862466 C -> T LOC_Os08g08440.1 upstream_gene_variant ; 3362.0bp to feature; MODIFIER silent_mutation Average:83.293; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0804862466 C -> T LOC_Os08g08440-LOC_Os08g08450 intergenic_region ; MODIFIER silent_mutation Average:83.293; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0804862466 C -> DEL N N silent_mutation Average:83.293; most accessible tissue: Minghui63 root, score: 92.879 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)
vg0804862466 C T -0.1 -0.06 -0.01 -0.03 -0.05 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0804862466 NA 8.48E-07 mr1180 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
vg0804862466 NA 5.94E-08 mr1280 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
vg0804862466 NA 1.18E-06 mr1318 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
vg0804862466 NA 2.99E-06 mr1729 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
vg0804862466 NA 3.00E-07 mr1729 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
vg0804862466 NA 2.62E-06 mr1788 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
vg0804862466 NA 4.32E-07 mr1027_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
vg0804862466 NA 9.73E-07 mr1183_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
vg0804862466 NA 9.47E-06 mr1318_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
vg0804862466 NA 3.72E-06 mr1558_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
vg0804862466 NA 4.10E-07 mr1788_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