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Detailed information for vg0521856587:

Variant ID: vg0521856587 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 21856587
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCATGCAGTCTAGGGATGAAAGCGGATCGGATATATACATCGATTGAACCGTTAAGTTTTAAAATTTTAGTGACACCAAACCAATCAAATATATTTTTTT[A/T]
AAAAAAAAGACTGCTATATACCGAAATACCGTTGCAACGGTATAGCATGTCATCCGCACACCGACCGTGCTTTATCTGGACGTGCATGCTATGTAAAATA

Reverse complement sequence

TATTTTACATAGCATGCACGTCCAGATAAAGCACGGTCGGTGTGCGGATGACATGCTATACCGTTGCAACGGTATTTCGGTATATAGCAGTCTTTTTTTT[T/A]
AAAAAAATATATTTGATTGGTTTGGTGTCACTAAAATTTTAAAACTTAACGGTTCAATCGATGTATATATCCGATCCGCTTTCATCCCTAGACTGCATGG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 71.90% 25.10% 2.98% 0.00% NA
All Indica  2759 96.30% 2.50% 1.16% 0.00% NA
All Japonica  1512 34.90% 58.30% 6.81% 0.00% NA
Aus  269 49.10% 50.20% 0.74% 0.00% NA
Indica I  595 97.30% 1.30% 1.34% 0.00% NA
Indica II  465 97.80% 1.30% 0.86% 0.00% NA
Indica III  913 98.70% 1.20% 0.11% 0.00% NA
Indica Intermediate  786 92.00% 5.60% 2.42% 0.00% NA
Temperate Japonica  767 4.80% 88.30% 6.91% 0.00% NA
Tropical Japonica  504 79.40% 14.30% 6.35% 0.00% NA
Japonica Intermediate  241 37.80% 54.80% 7.47% 0.00% NA
VI/Aromatic  96 14.60% 83.30% 2.08% 0.00% NA
Intermediate  90 72.20% 25.60% 2.22% 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
vg0521856587 A -> T LOC_Os05g37350.1 upstream_gene_variant ; 143.0bp to feature; MODIFIER silent_mutation Average:91.664; most accessible tissue: Minghui63 panicle, score: 96.942 N N N N
vg0521856587 A -> T LOC_Os05g37360.1 downstream_gene_variant ; 1330.0bp to feature; MODIFIER silent_mutation Average:91.664; most accessible tissue: Minghui63 panicle, score: 96.942 N N N N
vg0521856587 A -> T LOC_Os05g37350-LOC_Os05g37360 intergenic_region ; MODIFIER silent_mutation Average:91.664; most accessible tissue: Minghui63 panicle, score: 96.942 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)
vg0521856587 A T 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
vg0521856587 NA 4.35E-56 mr1125 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
vg0521856587 4.30E-06 4.29E-06 mr1473 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
vg0521856587 NA 1.99E-07 mr1124_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
vg0521856587 NA 4.33E-65 mr1125_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
vg0521856587 NA 1.76E-06 mr1925_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