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Detailed information for vg0729303197:

Variant ID: vg0729303197 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 29303197
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.65, G: 0.35, others allele: 0.00, population size: 100. )

Flanking Sequence (100 bp) in Reference Genome:


CGTACTTACCTCCGTCCTATAAAAACATACCTACTGCGAGATGTGATACATCCTTATTAGATTTATTTTTTTATAGAATGAAGGAATAACATACTCACAC[A/G]
CATAAACACCATTTCCACCCCTACATACACTCACACACACGTTTAGAATGATTAAAAATCTATAGCCTCATGTAAGTGCGCATCATATTTGTATTATTTT

Reverse complement sequence

AAAATAATACAAATATGATGCGCACTTACATGAGGCTATAGATTTTTAATCATTCTAAACGTGTGTGTGAGTGTATGTAGGGGTGGAAATGGTGTTTATG[T/C]
GTGTGAGTATGTTATTCCTTCATTCTATAAAAAAATAAATCTAATAAGGATGTATCACATCTCGCAGTAGGTATGTTTTTATAGGACGGAGGTAAGTACG

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 64.30% 35.70% 0.00% 0.00% NA
All Indica  2759 95.00% 5.00% 0.00% 0.00% NA
All Japonica  1512 13.00% 87.00% 0.00% 0.00% NA
Aus  269 64.30% 35.70% 0.00% 0.00% NA
Indica I  595 98.80% 1.20% 0.00% 0.00% NA
Indica II  465 94.60% 5.40% 0.00% 0.00% NA
Indica III  913 93.60% 6.40% 0.00% 0.00% NA
Indica Intermediate  786 94.00% 6.00% 0.00% 0.00% NA
Temperate Japonica  767 1.30% 98.70% 0.00% 0.00% NA
Tropical Japonica  504 22.60% 77.40% 0.00% 0.00% NA
Japonica Intermediate  241 30.30% 69.70% 0.00% 0.00% NA
VI/Aromatic  96 8.30% 91.70% 0.00% 0.00% NA
Intermediate  90 43.30% 56.70% 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
vg0729303197 A -> G LOC_Os07g48960.1 upstream_gene_variant ; 355.0bp to feature; MODIFIER silent_mutation Average:68.284; most accessible tissue: Callus, score: 92.29 N N N N
vg0729303197 A -> G LOC_Os07g48970.1 upstream_gene_variant ; 544.0bp to feature; MODIFIER silent_mutation Average:68.284; most accessible tissue: Callus, score: 92.29 N N N N
vg0729303197 A -> G LOC_Os07g48970.2 upstream_gene_variant ; 418.0bp to feature; MODIFIER silent_mutation Average:68.284; most accessible tissue: Callus, score: 92.29 N N N N
vg0729303197 A -> G LOC_Os07g48960-LOC_Os07g48970 intergenic_region ; MODIFIER silent_mutation Average:68.284; most accessible tissue: Callus, score: 92.29 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)
vg0729303197 A G 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0729303197 NA 4.01E-20 mr1021 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
vg0729303197 NA 3.17E-15 mr1165 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
vg0729303197 NA 1.43E-11 mr1325 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
vg0729303197 NA 9.29E-22 mr1477 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
vg0729303197 NA 6.61E-07 mr1734 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
vg0729303197 NA 5.03E-12 mr1744 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
vg0729303197 NA 2.10E-06 mr1772 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
vg0729303197 NA 1.92E-07 mr1837_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