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Detailed information for vg0713417596:

Variant ID: vg0713417596 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 13417596
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGTGATAATTAATTTGACTCCTGGTTTGGAATGGATAATTCCTGGTTTGGAGGTTAGATCTGTACGACCGGGGTTGATTGTTCAGGTTTGGTTGGGCCTG[A/T]
GCAGCATGGGTGTGTTGTTTAGTGTTGATTAAAATTGATGATTAATTACTCTACTGTTTTACTTCTCTTAAATGTTTGCTAAATGCTGCTTTCGCAAATG

Reverse complement sequence

CATTTGCGAAAGCAGCATTTAGCAAACATTTAAGAGAAGTAAAACAGTAGAGTAATTAATCATCAATTTTAATCAACACTAAACAACACACCCATGCTGC[T/A]
CAGGCCCAACCAAACCTGAACAATCAACCCCGGTCGTACAGATCTAACCTCCAAACCAGGAATTATCCATTCCAAACCAGGAGTCAAATTAATTATCACA

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 78.20% 2.00% 15.00% 4.82% NA
All Indica  2759 84.30% 0.90% 14.53% 0.33% NA
All Japonica  1512 71.90% 2.40% 11.31% 14.42% NA
Aus  269 66.20% 8.90% 24.91% 0.00% NA
Indica I  595 70.60% 0.50% 28.74% 0.17% NA
Indica II  465 90.80% 1.90% 7.31% 0.00% NA
Indica III  913 96.50% 0.10% 3.40% 0.00% NA
Indica Intermediate  786 76.60% 1.40% 20.99% 1.02% NA
Temperate Japonica  767 65.40% 1.30% 10.30% 22.95% NA
Tropical Japonica  504 95.80% 1.00% 3.17% 0.00% NA
Japonica Intermediate  241 42.30% 8.70% 31.54% 17.43% NA
VI/Aromatic  96 31.20% 8.30% 59.38% 1.04% NA
Intermediate  90 84.40% 1.10% 14.44% 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
vg0713417596 A -> DEL N N silent_mutation Average:63.201; most accessible tissue: Minghui63 flag leaf, score: 87.594 N N N N
vg0713417596 A -> T LOC_Os07g23760.1 upstream_gene_variant ; 2357.0bp to feature; MODIFIER silent_mutation Average:63.201; most accessible tissue: Minghui63 flag leaf, score: 87.594 N N N N
vg0713417596 A -> T LOC_Os07g23740-LOC_Os07g23760 intergenic_region ; MODIFIER silent_mutation Average:63.201; most accessible tissue: Minghui63 flag leaf, score: 87.594 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)
vg0713417596 A T 0.0 0.0 0.0 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0713417596 5.37E-06 3.16E-06 mr1041 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
vg0713417596 3.72E-06 NA mr1414 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
vg0713417596 5.41E-06 1.07E-06 mr1492 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
vg0713417596 4.50E-06 1.09E-06 mr1809 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
vg0713417596 1.81E-06 3.04E-07 mr1820 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
vg0713417596 4.64E-06 NA mr1824 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