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Detailed information for vg0113350301:

Variant ID: vg0113350301 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 13350301
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.96, C: 0.03, others allele: 0.00, population size: 122. )

Flanking Sequence (100 bp) in Reference Genome:


ATTCCTCCCTCCGCTCGTGCCTGCCGCTGCTATGGGGAAGAAGGCGCGCCGTCGCTCGCTTACATCCTCCACGTGTGCTCGCCACCGCCGCTGGTAGGAG[C/T]
GTCGCCGCCGGGTCAAGCCCCTCCGCCGAAGAGATGAGAGACTACAATGGCACCGAGGAACACTAGCCCAACCACCACCAGCGTCATCCACAGGCAGCAC

Reverse complement sequence

GTGCTGCCTGTGGATGACGCTGGTGGTGGTTGGGCTAGTGTTCCTCGGTGCCATTGTAGTCTCTCATCTCTTCGGCGGAGGGGCTTGACCCGGCGGCGAC[G/A]
CTCCTACCAGCGGCGGTGGCGAGCACACGTGGAGGATGTAAGCGAGCGACGGCGCGCCTTCTTCCCCATAGCAGCGGCAGGCACGAGCGGAGGGAGGAAT

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 74.60% 25.40% 0.00% 0.00% NA
All Indica  2759 98.70% 1.30% 0.00% 0.00% NA
All Japonica  1512 26.30% 73.70% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 97.50% 2.50% 0.00% 0.00% NA
Indica Intermediate  786 99.40% 0.60% 0.00% 0.00% NA
Temperate Japonica  767 18.30% 81.70% 0.00% 0.00% NA
Tropical Japonica  504 43.50% 56.50% 0.00% 0.00% NA
Japonica Intermediate  241 15.80% 84.20% 0.00% 0.00% NA
VI/Aromatic  96 82.30% 17.70% 0.00% 0.00% NA
Intermediate  90 66.70% 33.30% 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
vg0113350301 C -> T LOC_Os01g23710.1 upstream_gene_variant ; 4395.0bp to feature; MODIFIER silent_mutation Average:81.526; most accessible tissue: Callus, score: 97.943 N N N N
vg0113350301 C -> T LOC_Os01g23740.1 upstream_gene_variant ; 3328.0bp to feature; MODIFIER silent_mutation Average:81.526; most accessible tissue: Callus, score: 97.943 N N N N
vg0113350301 C -> T LOC_Os01g23740.2 upstream_gene_variant ; 3328.0bp to feature; MODIFIER silent_mutation Average:81.526; most accessible tissue: Callus, score: 97.943 N N N N
vg0113350301 C -> T LOC_Os01g23730.1 downstream_gene_variant ; 930.0bp to feature; MODIFIER silent_mutation Average:81.526; most accessible tissue: Callus, score: 97.943 N N N N
vg0113350301 C -> T LOC_Os01g23730-LOC_Os01g23740 intergenic_region ; MODIFIER silent_mutation Average:81.526; most accessible tissue: Callus, score: 97.943 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)
vg0113350301 C T -0.07 -0.07 -0.06 -0.07 -0.08 -0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0113350301 NA 1.61E-12 mr1031 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
vg0113350301 NA 1.03E-12 mr1034 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
vg0113350301 NA 8.77E-13 mr1056 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
vg0113350301 NA 3.47E-07 mr1162 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
vg0113350301 NA 2.28E-25 mr1163 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
vg0113350301 NA 3.93E-13 mr1170 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
vg0113350301 NA 1.81E-06 mr1252 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
vg0113350301 NA 5.19E-13 mr1740 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
vg0113350301 NA 3.60E-09 mr1804 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
vg0113350301 NA 1.60E-06 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
vg0113350301 NA 3.90E-09 mr1030_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
vg0113350301 NA 3.71E-07 mr1749_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
vg0113350301 NA 1.12E-27 mr1768_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
vg0113350301 NA 1.16E-07 mr1821_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