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Detailed information for vg1126298252:

Variant ID: vg1126298252 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 26298252
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 100. )

Flanking Sequence (100 bp) in Reference Genome:


CCACATTCATATTGATGTTAATGAATCTAGATAATATATATGTCTAGATGCATTAACATCATATAAATGTAAAAAATAATAGAATGACTTATACTGTGAA[C/T]
CGGAGGGAGTACTACTTTACAAACTGATATGTATGACATTTTTCTCAGAGAGATTTCATACCATGAAATTTTTAGCAAAGCATGAGAATTCACATGTGAC

Reverse complement sequence

GTCACATGTGAATTCTCATGCTTTGCTAAAAATTTCATGGTATGAAATCTCTCTGAGAAAAATGTCATACATATCAGTTTGTAAAGTAGTACTCCCTCCG[G/A]
TTCACAGTATAAGTCATTCTATTATTTTTTACATTTATATGATGTTAATGCATCTAGACATATATATTATCTAGATTCATTAACATCAATATGAATGTGG

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 70.10% 12.50% 6.22% 11.19% NA
All Indica  2759 62.30% 16.10% 6.71% 14.93% NA
All Japonica  1512 89.90% 7.20% 1.79% 1.12% NA
Aus  269 53.20% 9.30% 21.56% 15.99% NA
Indica I  595 37.00% 49.40% 3.03% 10.59% NA
Indica II  465 28.20% 16.30% 18.92% 36.56% NA
Indica III  913 91.60% 2.30% 1.53% 4.60% NA
Indica Intermediate  786 67.60% 6.70% 8.27% 17.43% NA
Temperate Japonica  767 91.50% 5.50% 2.87% 0.13% NA
Tropical Japonica  504 92.10% 6.30% 0.40% 1.19% NA
Japonica Intermediate  241 80.10% 14.50% 1.24% 4.15% NA
VI/Aromatic  96 26.00% 3.10% 20.83% 50.00% NA
Intermediate  90 74.40% 11.10% 4.44% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126298252 C -> T LOC_Os11g43590.1 upstream_gene_variant ; 1605.0bp to feature; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> T LOC_Os11g43590.2 upstream_gene_variant ; 1508.0bp to feature; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> T LOC_Os11g43590.3 upstream_gene_variant ; 1605.0bp to feature; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> T LOC_Os11g43590.4 upstream_gene_variant ; 1605.0bp to feature; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> T LOC_Os11g43580.1 downstream_gene_variant ; 3740.0bp to feature; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> T LOC_Os11g43580-LOC_Os11g43590 intergenic_region ; MODIFIER silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 N N N N
vg1126298252 C -> DEL N N silent_mutation Average:75.677; most accessible tissue: Callus, score: 98.274 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)
vg1126298252 C T -0.01 -0.03 -0.02 -0.03 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126298252 2.02E-08 4.09E-13 mr1191 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
vg1126298252 4.80E-08 1.70E-08 mr1191 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
vg1126298252 7.97E-09 1.30E-13 mr1644 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
vg1126298252 1.37E-07 7.66E-09 mr1644 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
vg1126298252 NA 9.64E-09 mr1662 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
vg1126298252 NA 1.10E-08 mr1662 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
vg1126298252 NA 1.53E-07 mr1745 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
vg1126298252 NA 1.36E-06 mr1133_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
vg1126298252 1.52E-09 2.55E-22 mr1191_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
vg1126298252 3.67E-08 9.61E-14 mr1191_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
vg1126298252 4.16E-06 NA mr1566_2 Ind_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
vg1126298252 NA 8.29E-08 mr1662_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
vg1126298252 NA 6.55E-07 mr1662_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
vg1126298252 NA 9.55E-06 mr1667_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
vg1126298252 NA 2.99E-08 mr1745_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
vg1126298252 NA 5.57E-06 mr1929_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