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Detailed information for vg1125256580:

Variant ID: vg1125256580 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25256580
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATTTTCAAACTCAATAACTCGAGAGTTATTCATGATTTATATTTTCAAGGTTTGACTTAAACATTGTCATAAACGATTTTCTTTACGAGTACGGAGAGA[G/T]
GACATGATTTATGATTAAAGTCTGTTGAAATCAATCATTTGGAACATGCTATTATATGTTTTTTTTAACTTACTCAGACTTCTCTGTAATTTTTTTCTGG

Reverse complement sequence

CCAGAAAAAAATTACAGAGAAGTCTGAGTAAGTTAAAAAAAACATATAATAGCATGTTCCAAATGATTGATTTCAACAGACTTTAATCATAAATCATGTC[C/A]
TCTCTCCGTACTCGTAAAGAAAATCGTTTATGACAATGTTTAAGTCAAACCTTGAAAATATAAATCATGAATAACTCTCGAGTTATTGAGTTTGAAAATG

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 94.60% 1.50% 1.31% 2.67% NA
All Indica  2759 94.70% 0.90% 1.52% 2.90% NA
All Japonica  1512 96.40% 1.10% 0.13% 2.38% NA
Aus  269 84.80% 7.10% 6.32% 1.86% NA
Indica I  595 98.80% 1.20% 0.00% 0.00% NA
Indica II  465 85.60% 0.20% 5.38% 8.82% NA
Indica III  913 98.60% 1.10% 0.00% 0.33% NA
Indica Intermediate  786 92.40% 0.90% 2.16% 4.58% NA
Temperate Japonica  767 98.60% 1.20% 0.00% 0.26% NA
Tropical Japonica  504 95.40% 0.60% 0.40% 3.57% NA
Japonica Intermediate  241 91.70% 1.70% 0.00% 6.64% NA
VI/Aromatic  96 89.60% 8.30% 0.00% 2.08% NA
Intermediate  90 94.40% 1.10% 1.11% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1125256580 G -> T LOC_Os11g41990.1 upstream_gene_variant ; 3813.0bp to feature; MODIFIER silent_mutation Average:86.216; most accessible tissue: Minghui63 young leaf, score: 95.751 N N N N
vg1125256580 G -> T LOC_Os11g42000.1 upstream_gene_variant ; 1304.0bp to feature; MODIFIER silent_mutation Average:86.216; most accessible tissue: Minghui63 young leaf, score: 95.751 N N N N
vg1125256580 G -> T LOC_Os11g41990.2 upstream_gene_variant ; 3813.0bp to feature; MODIFIER silent_mutation Average:86.216; most accessible tissue: Minghui63 young leaf, score: 95.751 N N N N
vg1125256580 G -> T LOC_Os11g41990-LOC_Os11g42000 intergenic_region ; MODIFIER silent_mutation Average:86.216; most accessible tissue: Minghui63 young leaf, score: 95.751 N N N N
vg1125256580 G -> DEL N N silent_mutation Average:86.216; most accessible tissue: Minghui63 young leaf, score: 95.751 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)
vg1125256580 G T -0.08 -0.07 -0.1 -0.03 -0.05 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1125256580 2.50E-12 5.29E-14 mr1238 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
vg1125256580 2.64E-09 2.31E-10 mr1309 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
vg1125256580 NA 3.35E-06 mr1484 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
vg1125256580 1.64E-06 1.49E-07 mr1841 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
vg1125256580 5.27E-09 4.34E-11 mr1238_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
vg1125256580 1.46E-09 6.95E-12 mr1484_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
vg1125256580 1.24E-06 NA mr1662_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
vg1125256580 1.80E-09 9.31E-12 mr1841_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
vg1125256580 3.19E-06 4.32E-08 mr1900_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
vg1125256580 7.72E-08 7.72E-08 mr1945_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