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Detailed information for vg0234944389:

Variant ID: vg0234944389 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 34944389
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATTACGACTAATTTGCGATACGAATCTTTTAAGCCTAATTGCTATATGATTTGACAATGTGGTGCTACATTAAACATTTACTAATAACGGATTAATTAG[G/A]
CTTAATAAATTTGTCTTGCGGTTTACTTACGGATTATGTAATTAGTTTTTTATTAATACCCGAACACTCCATACGACACCATATATGATACCCGATGTAA

Reverse complement sequence

TTACATCGGGTATCATATATGGTGTCGTATGGAGTGTTCGGGTATTAATAAAAAACTAATTACATAATCCGTAAGTAAACCGCAAGACAAATTTATTAAG[C/T]
CTAATTAATCCGTTATTAGTAAATGTTTAATGTAGCACCACATTGTCAAATCATATAGCAATTAGGCTTAAAAGATTCGTATCGCAAATTAGTCGTAATC

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 69.60% 27.10% 2.31% 0.99% NA
All Indica  2759 95.10% 1.10% 2.68% 1.20% NA
All Japonica  1512 17.90% 80.00% 1.32% 0.79% NA
Aus  269 91.10% 4.10% 4.09% 0.74% NA
Indica I  595 96.10% 0.50% 3.19% 0.17% NA
Indica II  465 97.60% 0.40% 1.94% 0.00% NA
Indica III  913 93.90% 1.30% 1.86% 2.96% NA
Indica Intermediate  786 94.10% 1.50% 3.69% 0.64% NA
Temperate Japonica  767 8.10% 91.80% 0.00% 0.13% NA
Tropical Japonica  504 36.30% 57.50% 3.97% 2.18% NA
Japonica Intermediate  241 10.80% 89.20% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 62.20% 33.30% 4.44% 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
vg0234944389 G -> A LOC_Os02g57070.1 upstream_gene_variant ; 307.0bp to feature; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> A LOC_Os02g57070.2 upstream_gene_variant ; 307.0bp to feature; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> A LOC_Os02g57060.1 downstream_gene_variant ; 2773.0bp to feature; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> A LOC_Os02g57080.1 downstream_gene_variant ; 584.0bp to feature; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> A LOC_Os02g57080.2 downstream_gene_variant ; 584.0bp to feature; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> A LOC_Os02g57070-LOC_Os02g57080 intergenic_region ; MODIFIER silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 N N N N
vg0234944389 G -> DEL N N silent_mutation Average:68.462; most accessible tissue: Minghui63 panicle, score: 88.595 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)
vg0234944389 G A 0.0 0.0 0.0 -0.02 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0234944389 NA 1.75E-34 Grain_thickness All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0234944389 3.32E-07 1.66E-69 Grain_width All YES Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0234944389 NA 2.69E-13 Grain_width Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0234944389 6.53E-06 5.42E-11 mr1188 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
vg0234944389 NA 2.54E-31 mr1448 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
vg0234944389 NA 1.01E-06 mr1471 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
vg0234944389 NA 1.25E-11 mr1188_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
vg0234944389 NA 2.63E-23 mr1386_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
vg0234944389 NA 5.07E-09 mr1526_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
vg0234944389 NA 8.02E-14 mr1575_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
vg0234944389 NA 7.20E-25 mr1653_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