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Detailed information for vg0101291884:

Variant ID: vg0101291884 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 1291884
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGAACACCTACATAAAGTATTAAATATATGCTTAAAAAATAACTACTCTTGAATAGATTGCGACTATTTTGCGAGACGAATCTGTTAAACCTAATTGCTC[T/C]
ATGATTTTACAATGTGGTGCTACAGTAAACATGCGCTATTGACGGATTAATTAGGCTTAATAAATTCGTCTCGCGCGGTTTACTTATAGATAATGTAATT

Reverse complement sequence

AATTACATTATCTATAAGTAAACCGCGCGAGACGAATTTATTAAGCCTAATTAATCCGTCAATAGCGCATGTTTACTGTAGCACCACATTGTAAAATCAT[A/G]
GAGCAATTAGGTTTAACAGATTCGTCTCGCAAAATAGTCGCAATCTATTCAAGAGTAGTTATTTTTTAAGCATATATTTAATACTTTATGTAGGTGTTCA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 82.50% 0.20% 0.61% 16.67% NA
All Indica  2759 73.90% 0.00% 0.91% 25.15% NA
All Japonica  1512 94.20% 0.00% 0.07% 5.75% NA
Aus  269 95.50% 2.60% 1.12% 0.74% NA
Indica I  595 77.50% 0.00% 0.34% 22.18% NA
Indica II  465 96.30% 0.00% 0.00% 3.66% NA
Indica III  913 57.60% 0.00% 1.64% 40.74% NA
Indica Intermediate  786 76.80% 0.10% 1.02% 22.01% NA
Temperate Japonica  767 88.70% 0.00% 0.13% 11.21% NA
Tropical Japonica  504 99.80% 0.00% 0.00% 0.20% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 1.00% 0.00% 1.04% NA
Intermediate  90 95.60% 0.00% 0.00% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0101291884 T -> DEL N N silent_mutation Average:58.925; most accessible tissue: Minghui63 panicle, score: 92.666 N N N N
vg0101291884 T -> C LOC_Os01g03210-LOC_Os01g03220 intergenic_region ; MODIFIER silent_mutation Average:58.925; most accessible tissue: Minghui63 panicle, score: 92.666 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)
vg0101291884 T C -0.02 -0.01 -0.01 -0.01 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0101291884 1.43E-06 2.71E-12 mr1471 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
vg0101291884 NA 7.70E-06 mr1625 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
vg0101291884 NA 2.67E-07 mr1684 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
vg0101291884 7.39E-06 3.94E-11 mr1722 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
vg0101291884 NA 9.62E-07 mr1815 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
vg0101291884 NA 7.62E-08 mr1582_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