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Detailed information for vg0723091591:

Variant ID: vg0723091591 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 23091591
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGTCTTATTAAAAAAATAGAATTATTTTTTTTTGACTTACTTTATTATCCAAAGTACTTTAAGCATAATTTTTTATTTTTTATATTTGCAAAAAAAATT[A/G]
AATAAGACGAGTGGTTAAATATTACAAGTAAAAACTCAAAATCCCTTATATTATGAGTTGGAGGGAGCAGGGTTTTTTTAGATGTTTACAGGGAAAGAGT

Reverse complement sequence

ACTCTTTCCCTGTAAACATCTAAAAAAACCCTGCTCCCTCCAACTCATAATATAAGGGATTTTGAGTTTTTACTTGTAATATTTAACCACTCGTCTTATT[T/C]
AATTTTTTTTGCAAATATAAAAAATAAAAAATTATGCTTAAAGTACTTTGGATAATAAAGTAAGTCAAAAAAAAATAATTCTATTTTTTTAATAAGACGA

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 70.40% 14.60% 4.13% 10.96% NA
All Indica  2759 68.60% 8.30% 5.29% 17.76% NA
All Japonica  1512 69.40% 27.90% 2.65% 0.00% NA
Aus  269 89.60% 0.00% 1.12% 9.29% NA
Indica I  595 64.70% 0.30% 15.29% 19.66% NA
Indica II  465 60.90% 15.10% 3.01% 21.08% NA
Indica III  913 74.20% 11.50% 0.88% 13.47% NA
Indica Intermediate  786 69.80% 6.60% 4.20% 19.34% NA
Temperate Japonica  767 56.60% 40.90% 2.48% 0.00% NA
Tropical Japonica  504 80.40% 16.50% 3.17% 0.00% NA
Japonica Intermediate  241 87.60% 10.40% 2.07% 0.00% NA
VI/Aromatic  96 86.50% 13.50% 0.00% 0.00% NA
Intermediate  90 63.30% 26.70% 6.67% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0723091591 A -> DEL N N silent_mutation Average:89.174; most accessible tissue: Callus, score: 94.274 N N N N
vg0723091591 A -> G LOC_Os07g38420.1 upstream_gene_variant ; 670.0bp to feature; MODIFIER silent_mutation Average:89.174; most accessible tissue: Callus, score: 94.274 N N N N
vg0723091591 A -> G LOC_Os07g38430.1 upstream_gene_variant ; 299.0bp to feature; MODIFIER silent_mutation Average:89.174; most accessible tissue: Callus, score: 94.274 N N N N
vg0723091591 A -> G LOC_Os07g38410.1 downstream_gene_variant ; 3067.0bp to feature; MODIFIER silent_mutation Average:89.174; most accessible tissue: Callus, score: 94.274 N N N N
vg0723091591 A -> G LOC_Os07g38420-LOC_Os07g38430 intergenic_region ; MODIFIER silent_mutation Average:89.174; most accessible tissue: Callus, score: 94.274 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)
vg0723091591 A G -0.05 -0.04 -0.04 -0.03 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0723091591 NA 9.01E-07 mr1182_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
vg0723091591 NA 4.62E-08 mr1272_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
vg0723091591 NA 9.85E-09 mr1607_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
vg0723091591 9.01E-07 NA mr1691_2 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
vg0723091591 NA 7.69E-06 mr1711_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