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Detailed information for vg0905873470:

Variant ID: vg0905873470 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 5873470
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.68, A: 0.32, others allele: 0.00, population size: 88. )

Flanking Sequence (100 bp) in Reference Genome:


CACCTAACTATTATGGTATTAATTAATGTTTCACAAAACAATACTATTAAAAAAATATAATTCTTACCCATAGGATCCACCTACAGATGACGTAGGACAT[A/G]
AAGATGGCCATGGCCACTTCATTTGGTAGCTGGTCTACAGCGTAAGAATTCATACATAGTGCAGTTTTGTAAAACGCTAATAACATAATGCCTGTAGTTA

Reverse complement sequence

TAACTACAGGCATTATGTTATTAGCGTTTTACAAAACTGCACTATGTATGAATTCTTACGCTGTAGACCAGCTACCAAATGAAGTGGCCATGGCCATCTT[T/C]
ATGTCCTACGTCATCTGTAGGTGGATCCTATGGGTAAGAATTATATTTTTTTAATAGTATTGTTTTGTGAAACATTAATTAATACCATAATAGTTAGGTG

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 43.30% 29.70% 7.91% 19.13% NA
All Indica  2759 54.20% 1.60% 12.90% 31.35% NA
All Japonica  1512 14.60% 84.90% 0.07% 0.40% NA
Aus  269 84.80% 3.70% 3.35% 8.18% NA
Indica I  595 45.70% 1.00% 16.30% 36.97% NA
Indica II  465 52.90% 0.60% 12.90% 33.55% NA
Indica III  913 59.70% 1.60% 10.62% 28.04% NA
Indica Intermediate  786 54.80% 2.50% 12.98% 29.64% NA
Temperate Japonica  767 8.90% 90.90% 0.13% 0.13% NA
Tropical Japonica  504 16.50% 82.90% 0.00% 0.60% NA
Japonica Intermediate  241 29.00% 70.10% 0.00% 0.83% NA
VI/Aromatic  96 70.80% 28.10% 0.00% 1.04% NA
Intermediate  90 37.80% 42.20% 8.89% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0905873470 A -> G LOC_Os09g10760.1 upstream_gene_variant ; 268.0bp to feature; MODIFIER silent_mutation Average:81.056; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0905873470 A -> G LOC_Os09g10770.1 upstream_gene_variant ; 1502.0bp to feature; MODIFIER silent_mutation Average:81.056; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0905873470 A -> G LOC_Os09g10750.1 downstream_gene_variant ; 2794.0bp to feature; MODIFIER silent_mutation Average:81.056; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0905873470 A -> G LOC_Os09g10760-LOC_Os09g10770 intergenic_region ; MODIFIER silent_mutation Average:81.056; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0905873470 A -> DEL N N silent_mutation Average:81.056; most accessible tissue: Minghui63 panicle, score: 87.605 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)
vg0905873470 A G -0.01 -0.01 -0.01 -0.01 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0905873470 NA 2.04E-16 mr1968 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
vg0905873470 NA 5.54E-26 mr1323_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
vg0905873470 NA 7.90E-08 mr1700_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
vg0905873470 3.36E-06 3.36E-06 mr1754_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