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Detailed information for vg0809516128:

Variant ID: vg0809516128 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 9516128
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, others allele: 0.00, population size: 313. )

Flanking Sequence (100 bp) in Reference Genome:


AAAGATCACAATCAAAGTGTTCCTTCCTGACGATCCCTTACCACGATGACACCTAGCGTTGAAACCTATCCTCAGGTCCCTTTACGCCGTCTTGACAAGG[C/T]
CTCCGAGGAACCTAAGGGAACTTCGGCTGGGGACGCCCAGAGCAGATAAGGCCTTGTCGGATCATGAAGAGACAAAAGACCATGTAAGATTTGGTCGTGT

Reverse complement sequence

ACACGACCAAATCTTACATGGTCTTTTGTCTCTTCATGATCCGACAAGGCCTTATCTGCTCTGGGCGTCCCCAGCCGAAGTTCCCTTAGGTTCCTCGGAG[G/A]
CCTTGTCAAGACGGCGTAAAGGGACCTGAGGATAGGTTTCAACGCTAGGTGTCATCGTGGTAAGGGATCGTCAGGAAGGAACACTTTGATTGTGATCTTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 87.70% 6.50% 0.25% 5.54% NA
All Indica  2759 83.60% 10.70% 0.29% 5.44% NA
All Japonica  1512 92.30% 0.10% 0.26% 7.28% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 95.60% 2.00% 0.34% 2.02% NA
Indica II  465 91.80% 6.90% 0.00% 1.29% NA
Indica III  913 73.50% 16.90% 0.33% 9.31% NA
Indica Intermediate  786 81.30% 12.30% 0.38% 5.98% NA
Temperate Japonica  767 87.00% 0.00% 0.52% 12.52% NA
Tropical Japonica  504 98.80% 0.40% 0.00% 0.79% NA
Japonica Intermediate  241 95.90% 0.00% 0.00% 4.15% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 91.10% 6.70% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0809516128 C -> T LOC_Os08g15660.1 downstream_gene_variant ; 715.0bp to feature; MODIFIER silent_mutation Average:54.139; most accessible tissue: Minghui63 flag leaf, score: 81.811 N N N N
vg0809516128 C -> T LOC_Os08g15670.1 downstream_gene_variant ; 453.0bp to feature; MODIFIER silent_mutation Average:54.139; most accessible tissue: Minghui63 flag leaf, score: 81.811 N N N N
vg0809516128 C -> T LOC_Os08g15660-LOC_Os08g15670 intergenic_region ; MODIFIER silent_mutation Average:54.139; most accessible tissue: Minghui63 flag leaf, score: 81.811 N N N N
vg0809516128 C -> DEL N N silent_mutation Average:54.139; most accessible tissue: Minghui63 flag leaf, score: 81.811 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)
vg0809516128 C T -0.01 -0.02 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0809516128 2.96E-06 NA mr1183 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
vg0809516128 1.68E-06 NA mr1503 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
vg0809516128 5.64E-06 NA mr1503 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
vg0809516128 NA 5.96E-08 mr1929 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
vg0809516128 NA 6.61E-06 mr1900_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