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Detailed information for vg0527138830:

Variant ID: vg0527138830 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 27138830
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 109. )

Flanking Sequence (100 bp) in Reference Genome:


CGTGTCGGTGGGTCCCACATTTTTTTTTGAATGACATGTCGGTCCCACAATTTTTTTAACTCTAATGCCACGTAAGCGACACGTCGACGACACGTGGGAC[G/A]
AAGAGCGGGTCAACACTGCCACGTAGGCGCCACATCAGCCAAAACCGCTTCCAAAACCACCAAAGGATATAGTTTGCATCGGTTTTGATAGTTGGAGGAG

Reverse complement sequence

CTCCTCCAACTATCAAAACCGATGCAAACTATATCCTTTGGTGGTTTTGGAAGCGGTTTTGGCTGATGTGGCGCCTACGTGGCAGTGTTGACCCGCTCTT[C/T]
GTCCCACGTGTCGTCGACGTGTCGCTTACGTGGCATTAGAGTTAAAAAAATTGTGGGACCGACATGTCATTCAAAAAAAAATGTGGGACCCACCGACACG

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 38.80% 1.90% 4.25% 55.08% NA
All Indica  2759 13.80% 3.10% 6.96% 76.15% NA
All Japonica  1512 76.30% 0.00% 0.26% 23.41% NA
Aus  269 81.00% 0.00% 0.37% 18.59% NA
Indica I  595 12.30% 0.70% 2.86% 84.20% NA
Indica II  465 5.60% 7.30% 2.15% 84.95% NA
Indica III  913 15.00% 3.20% 12.71% 69.11% NA
Indica Intermediate  786 18.40% 2.30% 6.23% 73.03% NA
Temperate Japonica  767 98.20% 0.00% 0.13% 1.69% NA
Tropical Japonica  504 46.60% 0.00% 0.60% 52.78% NA
Japonica Intermediate  241 68.90% 0.00% 0.00% 31.12% NA
VI/Aromatic  96 42.70% 1.00% 2.08% 54.17% NA
Intermediate  90 43.30% 3.30% 2.22% 51.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0527138830 G -> DEL N N silent_mutation Average:65.378; most accessible tissue: Minghui63 panicle, score: 98.994 N N N N
vg0527138830 G -> A LOC_Os05g46890.1 upstream_gene_variant ; 271.0bp to feature; MODIFIER silent_mutation Average:65.378; most accessible tissue: Minghui63 panicle, score: 98.994 N N N N
vg0527138830 G -> A LOC_Os05g46874.1 downstream_gene_variant ; 4005.0bp to feature; MODIFIER silent_mutation Average:65.378; most accessible tissue: Minghui63 panicle, score: 98.994 N N N N
vg0527138830 G -> A LOC_Os05g46874-LOC_Os05g46890 intergenic_region ; MODIFIER silent_mutation Average:65.378; most accessible tissue: Minghui63 panicle, score: 98.994 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)
vg0527138830 G A 0.01 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
vg0527138830 9.09E-06 9.09E-06 mr1340 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
vg0527138830 NA 7.55E-06 mr1427 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
vg0527138830 NA 3.05E-07 mr1515 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
vg0527138830 NA 2.31E-06 mr1649 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
vg0527138830 4.81E-06 4.81E-06 mr1687 Ind_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