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Detailed information for vg0129151653:

Variant ID: vg0129151653 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 29151653
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGATCCGGTTTTATCTCACCCTTTGCGGGTGTTACCAAACTGGCAGGCACGGCCTCTTTTTTAACGAGGGAAGTGTAGCAGGAACGGTCTTTGCCTTCGC[G/T]
TAAAGAGAGAAGAGACAACTAGACAAGAGAGAGAGAGGCATATGTCACCTTCCCACGAAGACTTCAGATTTAACTTGCAGATCACCCATTCACCCGTTCT

Reverse complement sequence

AGAACGGGTGAATGGGTGATCTGCAAGTTAAATCTGAAGTCTTCGTGGGAAGGTGACATATGCCTCTCTCTCTCTTGTCTAGTTGTCTCTTCTCTCTTTA[C/A]
GCGAAGGCAAAGACCGTTCCTGCTACACTTCCCTCGTTAAAAAAGAGGCCGTGCCTGCCAGTTTGGTAACACCCGCAAAGGGTGAGATAAAACCGGATCA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.40% 9.60% 0.04% 0.00% NA
All Indica  2759 99.40% 0.60% 0.00% 0.00% NA
All Japonica  1512 73.50% 26.40% 0.13% 0.00% NA
Aus  269 95.50% 4.50% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 98.20% 1.80% 0.00% 0.00% NA
Temperate Japonica  767 96.10% 3.70% 0.26% 0.00% NA
Tropical Japonica  504 49.20% 50.80% 0.00% 0.00% NA
Japonica Intermediate  241 52.30% 47.70% 0.00% 0.00% NA
VI/Aromatic  96 89.60% 10.40% 0.00% 0.00% NA
Intermediate  90 84.40% 15.60% 0.00% 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
vg0129151653 G -> T LOC_Os01g50730.1 upstream_gene_variant ; 3547.0bp to feature; MODIFIER silent_mutation Average:84.033; most accessible tissue: Callus, score: 91.88 N N N N
vg0129151653 G -> T LOC_Os01g50750.1 upstream_gene_variant ; 966.0bp to feature; MODIFIER silent_mutation Average:84.033; most accessible tissue: Callus, score: 91.88 N N N N
vg0129151653 G -> T LOC_Os01g50740.1 downstream_gene_variant ; 2040.0bp to feature; MODIFIER silent_mutation Average:84.033; most accessible tissue: Callus, score: 91.88 N N N N
vg0129151653 G -> T LOC_Os01g50740-LOC_Os01g50750 intergenic_region ; MODIFIER silent_mutation Average:84.033; most accessible tissue: Callus, score: 91.88 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)
vg0129151653 G T -0.13 -0.09 -0.07 -0.08 -0.16 -0.16

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0129151653 NA 5.49E-13 mr1871 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
vg0129151653 NA 2.41E-20 mr1042_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
vg0129151653 NA 2.56E-07 mr1042_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
vg0129151653 NA 1.19E-09 mr1502_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
vg0129151653 NA 4.12E-10 mr1543_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
vg0129151653 NA 1.13E-13 mr1680_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
vg0129151653 NA 2.84E-06 mr1680_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
vg0129151653 1.16E-09 3.56E-28 mr1871_2 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
vg0129151653 NA 1.31E-10 mr1871_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