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Detailed information for vg0316340968:

Variant ID: vg0316340968 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 16340968
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.94, C: 0.05, others allele: 0.00, population size: 218. )

Flanking Sequence (100 bp) in Reference Genome:


GGAATTGTTCTTACGTCCTTACTATCTCGTTCTAAATTATAAGTGATTTTATTCATATAGTTATATACGTGTAAAAACTCTTTATATATTTTAAAATGAA[T/C]
AAAAACTACTATGCGAATGATGCCACAGGCAGCTGGAGAAGCTAGCAAATATAGCTGCGCAGGCTGGGCCACTTTTCAGGCTCATCTCACGCGATGCAAA

Reverse complement sequence

TTTGCATCGCGTGAGATGAGCCTGAAAAGTGGCCCAGCCTGCGCAGCTATATTTGCTAGCTTCTCCAGCTGCCTGTGGCATCATTCGCATAGTAGTTTTT[A/G]
TTCATTTTAAAATATATAAAGAGTTTTTACACGTATATAACTATATGAATAAAATCACTTATAATTTAGAACGAGATAGTAAGGACGTAAGAACAATTCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 53.20% 46.70% 0.11% 0.00% NA
All Indica  2759 81.90% 18.00% 0.14% 0.00% NA
All Japonica  1512 10.00% 90.00% 0.00% 0.00% NA
Aus  269 19.00% 81.00% 0.00% 0.00% NA
Indica I  595 62.20% 37.60% 0.17% 0.00% NA
Indica II  465 93.30% 6.70% 0.00% 0.00% NA
Indica III  913 90.90% 9.10% 0.00% 0.00% NA
Indica Intermediate  786 79.50% 20.10% 0.38% 0.00% NA
Temperate Japonica  767 3.30% 96.70% 0.00% 0.00% NA
Tropical Japonica  504 16.10% 83.90% 0.00% 0.00% NA
Japonica Intermediate  241 18.70% 81.30% 0.00% 0.00% NA
VI/Aromatic  96 14.60% 85.40% 0.00% 0.00% NA
Intermediate  90 42.20% 56.70% 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
vg0316340968 T -> C LOC_Os03g28360.1 upstream_gene_variant ; 2374.0bp to feature; MODIFIER silent_mutation Average:81.262; most accessible tissue: Callus, score: 96.994 N N N N
vg0316340968 T -> C LOC_Os03g28360-LOC_Os03g28370 intergenic_region ; MODIFIER silent_mutation Average:81.262; most accessible tissue: Callus, score: 96.994 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)
vg0316340968 T C -0.03 -0.04 -0.01 -0.02 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0316340968 NA 3.81E-06 mr1312 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
vg0316340968 NA 4.52E-06 mr1408 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
vg0316340968 NA 3.93E-06 mr1542 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
vg0316340968 NA 3.68E-08 mr1624 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
vg0316340968 NA 8.93E-11 mr1663 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
vg0316340968 4.36E-06 1.72E-08 mr1020_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
vg0316340968 NA 4.22E-09 mr1478_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
vg0316340968 NA 2.89E-07 mr1542_2 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
vg0316340968 NA 1.22E-06 mr1836_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
vg0316340968 NA 2.67E-06 mr1899_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