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Detailed information for vg0728786301:

Variant ID: vg0728786301 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 28786301
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.68, T: 0.32, others allele: 0.00, population size: 173. )

Flanking Sequence (100 bp) in Reference Genome:


TAGAAGTTGGGACTTGGGAAGCCTAGTTTATCTAAATTCTTATCAGTCGTTTGTCAGAGTGAGCAGCTGATTCTACGAATATGTAGTTATACATTTTTTT[A/T]
AAAAAAATGAACGGTAAGTCAGAAAGCGGAAACCAGCTTTTCTAAATTTACATCAGACGTTTCTCAGAGTTAAGCAGAAGCTCCAATAAACAGGACCTAA

Reverse complement sequence

TTAGGTCCTGTTTATTGGAGCTTCTGCTTAACTCTGAGAAACGTCTGATGTAAATTTAGAAAAGCTGGTTTCCGCTTTCTGACTTACCGTTCATTTTTTT[T/A]
AAAAAAATGTATAACTACATATTCGTAGAATCAGCTGCTCACTCTGACAAACGACTGATAAGAATTTAGATAAACTAGGCTTCCCAAGTCCCAACTTCTA

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 62.20% 37.40% 0.42% 0.02% NA
All Indica  2759 91.60% 7.80% 0.58% 0.04% NA
All Japonica  1512 8.50% 91.30% 0.20% 0.00% NA
Aus  269 82.20% 17.80% 0.00% 0.00% NA
Indica I  595 94.10% 4.70% 1.18% 0.00% NA
Indica II  465 92.30% 7.10% 0.43% 0.22% NA
Indica III  913 94.50% 5.40% 0.11% 0.00% NA
Indica Intermediate  786 86.00% 13.20% 0.76% 0.00% NA
Temperate Japonica  767 2.90% 96.90% 0.26% 0.00% NA
Tropical Japonica  504 13.70% 86.30% 0.00% 0.00% NA
Japonica Intermediate  241 15.40% 84.20% 0.41% 0.00% NA
VI/Aromatic  96 27.10% 72.90% 0.00% 0.00% NA
Intermediate  90 38.90% 60.00% 1.11% 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
vg0728786301 A -> DEL N N silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 N N N N
vg0728786301 A -> T LOC_Os07g48180.1 upstream_gene_variant ; 2364.0bp to feature; MODIFIER silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 N N N N
vg0728786301 A -> T LOC_Os07g48190.1 downstream_gene_variant ; 1069.0bp to feature; MODIFIER silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 N N N N
vg0728786301 A -> T LOC_Os07g48200.1 downstream_gene_variant ; 128.0bp to feature; MODIFIER silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 N N N N
vg0728786301 A -> T LOC_Os07g48200.2 downstream_gene_variant ; 1284.0bp to feature; MODIFIER silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 N N N N
vg0728786301 A -> T LOC_Os07g48190-LOC_Os07g48200 intergenic_region ; MODIFIER silent_mutation Average:79.186; most accessible tissue: Callus, score: 93.498 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)
vg0728786301 A T -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0728786301 6.74E-06 5.18E-17 mr1592 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
vg0728786301 NA 2.25E-11 mr1609 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
vg0728786301 NA 1.52E-07 mr1771 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
vg0728786301 NA 4.48E-07 mr1837 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
vg0728786301 NA 1.01E-12 mr1902 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
vg0728786301 NA 1.33E-06 mr1045_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
vg0728786301 NA 2.56E-08 mr1299_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
vg0728786301 NA 1.10E-10 mr1537_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
vg0728786301 NA 3.47E-22 mr1609_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
vg0728786301 NA 1.78E-08 mr1700_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
vg0728786301 NA 8.47E-13 mr1713_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
vg0728786301 NA 1.07E-07 mr1783_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
vg0728786301 NA 6.16E-07 mr1785_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
vg0728786301 NA 5.58E-08 mr1804_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
vg0728786301 NA 4.44E-09 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
vg0728786301 NA 1.74E-11 mr1844_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
vg0728786301 NA 1.27E-06 mr1915_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