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Detailed information for vg0205631770:

Variant ID: vg0205631770 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5631770
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAAAAGTTGGGTATATTTTATTTTCTGATTTTTTAAATAAGTTAGGCACAGTTGTAATCTCTAAGTGCTAAATTGGGTTAAACAGATCATATTATTATAA[A/T]
TTTTTCTGTTTTAAAAAAATACTATTACTATTCATCTTATTGTAACAGTGCCATTATAGATTTGTTGAAATTGGAAATATGCTATTACTTACTCTTTCAG

Reverse complement sequence

CTGAAAGAGTAAGTAATAGCATATTTCCAATTTCAACAAATCTATAATGGCACTGTTACAATAAGATGAATAGTAATAGTATTTTTTTAAAACAGAAAAA[T/A]
TTATAATAATATGATCTGTTTAACCCAATTTAGCACTTAGAGATTACAACTGTGCCTAACTTATTTAAAAAATCAGAAAATAAAATATACCCAACTTTTG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 87.60% 8.80% 3.64% 0.00% NA
All Indica  2759 90.40% 6.10% 3.48% 0.00% NA
All Japonica  1512 80.00% 15.50% 4.56% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 79.20% 10.60% 10.25% 0.00% NA
Indica II  465 88.20% 9.70% 2.15% 0.00% NA
Indica III  913 99.70% 0.20% 0.11% 0.00% NA
Indica Intermediate  786 89.60% 7.40% 3.05% 0.00% NA
Temperate Japonica  767 93.20% 1.40% 5.35% 0.00% NA
Tropical Japonica  504 53.60% 42.50% 3.97% 0.00% NA
Japonica Intermediate  241 92.90% 3.70% 3.32% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 77.80% 15.60% 6.67% 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
vg0205631770 A -> T LOC_Os02g10700.1 upstream_gene_variant ; 455.0bp to feature; MODIFIER silent_mutation Average:97.404; most accessible tissue: Minghui63 flower, score: 99.315 N N N N
vg0205631770 A -> T LOC_Os02g10690.1 downstream_gene_variant ; 4397.0bp to feature; MODIFIER silent_mutation Average:97.404; most accessible tissue: Minghui63 flower, score: 99.315 N N N N
vg0205631770 A -> T LOC_Os02g10690.2 downstream_gene_variant ; 4397.0bp to feature; MODIFIER silent_mutation Average:97.404; most accessible tissue: Minghui63 flower, score: 99.315 N N N N
vg0205631770 A -> T LOC_Os02g10700-LOC_Os02g10710 intergenic_region ; MODIFIER silent_mutation Average:97.404; most accessible tissue: Minghui63 flower, score: 99.315 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)
vg0205631770 A T 0.0 -0.01 -0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0205631770 2.03E-07 NA mr1301_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