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Detailed information for vg0112152317:

Variant ID: vg0112152317 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 12152317
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 272. )

Flanking Sequence (100 bp) in Reference Genome:


CTCTTCTCCTTTTCCAAAAACACCTAATTCTATATTGTTTACCGTTGTAATCAGATTGGGTGGAGAATTGCGTCTCAAACATTAGGGCCGCACGGGCTGC[G/T]
CGACTGGACTTGGCGGCTCAACTCCAGCCAGCGTTGCATTTTTCCTGCCCAAAGCACTTTGTCTATGTAGCGATGCCTTTGCCTCTAACGCGATTGGCGA

Reverse complement sequence

TCGCCAATCGCGTTAGAGGCAAAGGCATCGCTACATAGACAAAGTGCTTTGGGCAGGAAAAATGCAACGCTGGCTGGAGTTGAGCCGCCAAGTCCAGTCG[C/A]
GCAGCCCGTGCGGCCCTAATGTTTGAGACGCAATTCTCCACCCAATCTGATTACAACGGTAAACAATATAGAATTAGGTGTTTTTGGAAAAGGAGAAGAG

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 91.00% 8.60% 0.38% 0.00% NA
All Indica  2759 99.50% 0.50% 0.00% 0.00% NA
All Japonica  1512 73.50% 25.30% 1.12% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 99.10% 0.90% 0.00% 0.00% NA
Temperate Japonica  767 76.30% 22.30% 1.43% 0.00% NA
Tropical Japonica  504 60.70% 38.10% 1.19% 0.00% NA
Japonica Intermediate  241 91.70% 8.30% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 90.00% 8.90% 1.11% 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
vg0112152317 G -> T LOC_Os01g21660.1 upstream_gene_variant ; 2368.0bp to feature; MODIFIER silent_mutation Average:84.106; most accessible tissue: Callus, score: 93.206 N N N N
vg0112152317 G -> T LOC_Os01g21650-LOC_Os01g21660 intergenic_region ; MODIFIER silent_mutation Average:84.106; most accessible tissue: Callus, score: 93.206 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)
vg0112152317 G T 0.0 0.01 0.02 -0.01 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0112152317 NA 3.62E-08 mr1069 Jap_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
vg0112152317 NA 7.44E-07 mr1149 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
vg0112152317 NA 1.12E-06 mr1245 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
vg0112152317 NA 3.00E-06 mr1418 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
vg0112152317 NA 4.86E-06 mr1748 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
vg0112152317 NA 2.85E-08 mr1797 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
vg0112152317 NA 2.85E-08 mr1801 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
vg0112152317 NA 9.47E-06 mr1991 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
vg0112152317 NA 3.36E-06 mr1441_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
vg0112152317 NA 5.31E-08 mr1709_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