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Detailed information for vg0433760044:

Variant ID: vg0433760044 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 33760044
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTAAATATGTTTGACCGTTCGTCTTATTCAAAAACTTTTGTAAAATGTGTAAAACTATATGTATACATAAAAGTATATTTAACAATAAATCAAATGAGAG[G/A]
AAAAGAATTAACAATTATTTAAATTTTTTAAATAAGACGAACGATCAAATATTTTTAAAAAAGTCAACGACGTCAAACATTTTGGGATGGAGGTAGTACT

Reverse complement sequence

AGTACTACCTCCATCCCAAAATGTTTGACGTCGTTGACTTTTTTAAAAATATTTGATCGTTCGTCTTATTTAAAAAATTTAAATAATTGTTAATTCTTTT[C/T]
CTCTCATTTGATTTATTGTTAAATATACTTTTATGTATACATATAGTTTTACACATTTTACAAAAGTTTTTGAATAAGACGAACGGTCAAACATATTTAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.50% 31.50% 0.02% 0.00% NA
All Indica  2759 98.40% 1.60% 0.04% 0.00% NA
All Japonica  1512 18.10% 81.90% 0.00% 0.00% NA
Aus  269 57.20% 42.80% 0.00% 0.00% NA
Indica I  595 97.80% 2.20% 0.00% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 99.60% 0.30% 0.11% 0.00% NA
Indica Intermediate  786 97.30% 2.70% 0.00% 0.00% NA
Temperate Japonica  767 1.00% 99.00% 0.00% 0.00% NA
Tropical Japonica  504 49.00% 51.00% 0.00% 0.00% NA
Japonica Intermediate  241 7.50% 92.50% 0.00% 0.00% NA
VI/Aromatic  96 49.00% 51.00% 0.00% 0.00% NA
Intermediate  90 53.30% 46.70% 0.00% 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
vg0433760044 G -> A LOC_Os04g56620.1 upstream_gene_variant ; 1334.0bp to feature; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 N N N N
vg0433760044 G -> A LOC_Os04g56620.2 upstream_gene_variant ; 1334.0bp to feature; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 N N N N
vg0433760044 G -> A LOC_Os04g56600.1 downstream_gene_variant ; 4738.0bp to feature; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 N N N N
vg0433760044 G -> A LOC_Os04g56610.1 downstream_gene_variant ; 4171.0bp to feature; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 N N N N
vg0433760044 G -> A LOC_Os04g56630.1 downstream_gene_variant ; 4929.0bp to feature; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 N N N N
vg0433760044 G -> A LOC_Os04g56610-LOC_Os04g56620 intergenic_region ; MODIFIER silent_mutation Average:86.162; most accessible tissue: Callus, score: 96.551 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)
vg0433760044 G A -0.02 -0.01 -0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0433760044 NA 1.01E-09 mr1248 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
vg0433760044 NA 1.67E-08 mr1946 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
vg0433760044 1.36E-08 NA mr1188_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
vg0433760044 NA 1.46E-08 mr1805_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