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Detailed information for vg0431744691:

Variant ID: vg0431744691 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 31744691
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.82, T: 0.21, others allele: 0.00, population size: 28. )

Flanking Sequence (100 bp) in Reference Genome:


TCATCACATCGTTCCAATTTCAACCAAACTTTCAATTTTTGCGTGATCTAAACGGTGTGCAGCTTCTGCTTCAAGGTGGTGGTGGTGGTGGTGGTGGTGG[G/T]
GGTTGTGACTTGGTTAGCGACCGCCCATAATAACGGAACTGACTCCGAGCACCCGCGACCAAGCAGCAGCACAGCTCGTAGGGGAGCGTTGACCACTCCC

Reverse complement sequence

GGGAGTGGTCAACGCTCCCCTACGAGCTGTGCTGCTGCTTGGTCGCGGGTGCTCGGAGTCAGTTCCGTTATTATGGGCGGTCGCTAACCAAGTCACAACC[C/A]
CCACCACCACCACCACCACCACCACCTTGAAGCAGAAGCTGCACACCGTTTAGATCACGCAAAAATTGAAAGTTTGGTTGAAATTGGAACGATGTGATGA

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 79.20% 0.30% 0.95% 19.59% NA
All Indica  2759 80.90% 0.40% 0.87% 17.83% NA
All Japonica  1512 81.00% 0.00% 0.99% 17.99% NA
Aus  269 65.40% 0.70% 0.74% 33.09% NA
Indica I  595 62.20% 0.50% 0.00% 37.31% NA
Indica II  465 93.30% 0.60% 0.65% 5.38% NA
Indica III  913 86.20% 0.20% 0.77% 12.81% NA
Indica Intermediate  786 81.70% 0.30% 1.78% 16.28% NA
Temperate Japonica  767 90.90% 0.00% 0.26% 8.87% NA
Tropical Japonica  504 80.00% 0.00% 2.38% 17.66% NA
Japonica Intermediate  241 51.90% 0.00% 0.41% 47.72% NA
VI/Aromatic  96 36.50% 0.00% 2.08% 61.46% NA
Intermediate  90 81.10% 1.10% 2.22% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0431744691 G -> DEL N N silent_mutation Average:84.747; most accessible tissue: Minghui63 panicle, score: 92.526 N N N N
vg0431744691 G -> T LOC_Os04g53280.1 upstream_gene_variant ; 4568.0bp to feature; MODIFIER silent_mutation Average:84.747; most accessible tissue: Minghui63 panicle, score: 92.526 N N N N
vg0431744691 G -> T LOC_Os04g53300.1 upstream_gene_variant ; 4412.0bp to feature; MODIFIER silent_mutation Average:84.747; most accessible tissue: Minghui63 panicle, score: 92.526 N N N N
vg0431744691 G -> T LOC_Os04g53290.1 downstream_gene_variant ; 3242.0bp to feature; MODIFIER silent_mutation Average:84.747; most accessible tissue: Minghui63 panicle, score: 92.526 N N N N
vg0431744691 G -> T LOC_Os04g53290-LOC_Os04g53300 intergenic_region ; MODIFIER silent_mutation Average:84.747; most accessible tissue: Minghui63 panicle, score: 92.526 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)
vg0431744691 G T 0.08 0.04 0.03 0.01 0.05 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0431744691 NA 6.87E-07 mr1956 Ind_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
vg0431744691 NA 5.80E-06 mr1074_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
vg0431744691 NA 1.91E-08 mr1769_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
vg0431744691 NA 7.22E-06 mr1870_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
vg0431744691 NA 1.51E-06 mr1936_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
vg0431744691 NA 8.55E-07 mr1943_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
vg0431744691 NA 2.98E-06 mr1951_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