Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0406783001:

Variant ID: vg0406783001 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 6783001
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.78, G: 0.22, others allele: 0.00, population size: 58. )

Flanking Sequence (100 bp) in Reference Genome:


TTCAACCTCCAGGCAGAGCCGAGCCAGCCGTCCCGTGCACAGTTGCCGTCGATTTCCCCTCTAAATCCGGTCTCCTTTCTCGTGTTATTTCAAAATTAGT[G/T]
GAGGGGAAATATTCCTCTTATCCTCCTCTATCTCTTTCCCCAAAAATCCGGTTTTATCCCTTTGAATTCGACGCAAATTTGGATTCATTTTCGAGTTTAT

Reverse complement sequence

ATAAACTCGAAAATGAATCCAAATTTGCGTCGAATTCAAAGGGATAAAACCGGATTTTTGGGGAAAGAGATAGAGGAGGATAAGAGGAATATTTCCCCTC[C/A]
ACTAATTTTGAAATAACACGAGAAAGGAGACCGGATTTAGAGGGGAAATCGACGGCAACTGTGCACGGGACGGCTGGCTCGGCTCTGCCTGGAGGTTGAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 48.60% 12.00% 0.17% 39.21% NA
All Indica  2759 25.20% 18.50% 0.25% 56.11% NA
All Japonica  1512 95.50% 2.70% 0.00% 1.79% NA
Aus  269 24.50% 2.20% 0.37% 72.86% NA
Indica I  595 55.10% 5.90% 0.17% 38.82% NA
Indica II  465 29.20% 14.80% 0.00% 55.91% NA
Indica III  913 4.20% 26.30% 0.11% 69.44% NA
Indica Intermediate  786 24.40% 21.10% 0.64% 53.82% NA
Temperate Japonica  767 96.70% 3.00% 0.00% 0.26% NA
Tropical Japonica  504 96.00% 1.20% 0.00% 2.78% NA
Japonica Intermediate  241 90.50% 5.00% 0.00% 4.56% NA
VI/Aromatic  96 40.60% 1.00% 0.00% 58.33% NA
Intermediate  90 62.20% 8.90% 0.00% 28.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0406783001 G -> DEL N N silent_mutation Average:87.824; most accessible tissue: Minghui63 young leaf, score: 98.762 N N N N
vg0406783001 G -> T LOC_Os04g12290.1 upstream_gene_variant ; 2744.0bp to feature; MODIFIER silent_mutation Average:87.824; most accessible tissue: Minghui63 young leaf, score: 98.762 N N N N
vg0406783001 G -> T LOC_Os04g12280.1 downstream_gene_variant ; 1021.0bp to feature; MODIFIER silent_mutation Average:87.824; most accessible tissue: Minghui63 young leaf, score: 98.762 N N N N
vg0406783001 G -> T LOC_Os04g12280-LOC_Os04g12290 intergenic_region ; MODIFIER silent_mutation Average:87.824; most accessible tissue: Minghui63 young leaf, score: 98.762 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)
vg0406783001 G T 0.02 0.01 0.01 0.02 0.02 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0406783001 NA 1.17E-06 mr1015 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
vg0406783001 NA 5.17E-06 mr1166 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
vg0406783001 NA 9.95E-06 mr1286 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
vg0406783001 NA 2.43E-07 mr1305 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
vg0406783001 4.18E-06 1.29E-07 mr1392 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
vg0406783001 NA 3.08E-07 mr1409 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
vg0406783001 NA 3.24E-06 mr1515 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
vg0406783001 8.77E-06 8.77E-06 mr1573 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
vg0406783001 NA 2.62E-06 mr1586 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
vg0406783001 8.22E-06 1.53E-06 mr1687 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
vg0406783001 4.13E-07 4.13E-07 mr1687 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