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Detailed information for vg0413556513:

Variant ID: vg0413556513 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 13556513
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: 236. )

Flanking Sequence (100 bp) in Reference Genome:


CTATACTGCAATATGTAGCAACGTACTTGCACGAACATGTATGCTGATTCCTGACCGTCTGGTCGCGAAATCTGGCGGATGGACCAGATTCGTCTCACAC[G/T]
ATCGTCCGGAAAAATCACCCGCGCGAACCATTGATCCTATCCCACCACGTACCGATCGACCCCACTCATCCAATCGTACTTCCTGCCTTGCCCGATGACG

Reverse complement sequence

CGTCATCGGGCAAGGCAGGAAGTACGATTGGATGAGTGGGGTCGATCGGTACGTGGTGGGATAGGATCAATGGTTCGCGCGGGTGATTTTTCCGGACGAT[C/A]
GTGTGAGACGAATCTGGTCCATCCGCCAGATTTCGCGACCAGACGGTCAGGAATCAGCATACATGTTCGTGCAAGTACGTTGCTACATATTGCAGTATAG

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 91.80% 3.40% 1.33% 3.41% NA
All Indica  2759 93.10% 0.20% 0.98% 5.69% NA
All Japonica  1512 87.60% 10.30% 2.05% 0.07% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 96.50% 0.00% 0.84% 2.69% NA
Indica II  465 88.80% 0.60% 1.72% 8.82% NA
Indica III  913 93.40% 0.20% 0.55% 5.81% NA
Indica Intermediate  786 92.70% 0.10% 1.15% 5.98% NA
Temperate Japonica  767 97.50% 1.80% 0.65% 0.00% NA
Tropical Japonica  504 74.40% 22.00% 3.57% 0.00% NA
Japonica Intermediate  241 83.80% 12.40% 3.32% 0.41% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 90.00% 2.20% 5.56% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0413556513 G -> DEL N N silent_mutation Average:84.092; most accessible tissue: Callus, score: 99.152 N N N N
vg0413556513 G -> T LOC_Os04g23700.1 upstream_gene_variant ; 1180.0bp to feature; MODIFIER silent_mutation Average:84.092; most accessible tissue: Callus, score: 99.152 N N N N
vg0413556513 G -> T LOC_Os04g23700-LOC_Os04g23710 intergenic_region ; MODIFIER silent_mutation Average:84.092; most accessible tissue: Callus, score: 99.152 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)
vg0413556513 G T -0.14 -0.08 -0.04 -0.01 -0.08 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0413556513 NA 3.07E-06 mr1104 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
vg0413556513 7.01E-06 2.77E-07 mr1155 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
vg0413556513 NA 3.31E-07 mr1213 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
vg0413556513 1.88E-06 NA mr1070_2 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
vg0413556513 1.75E-06 NA mr1083_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
vg0413556513 4.07E-06 NA mr1085_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
vg0413556513 2.07E-07 5.49E-06 mr1104_2 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
vg0413556513 1.75E-07 7.65E-09 mr1155_2 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
vg0413556513 2.55E-07 3.58E-09 mr1224_2 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
vg0413556513 NA 8.97E-08 mr1246_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
vg0413556513 NA 2.96E-06 mr1404_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
vg0413556513 1.32E-06 NA mr1408_2 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
vg0413556513 9.67E-07 3.75E-06 mr1437_2 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
vg0413556513 1.91E-06 2.40E-07 mr1620_2 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