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Detailed information for vg1125264457:

Variant ID: vg1125264457 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25264457
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.90, C: 0.08, others allele: 0.00, population size: 72. )

Flanking Sequence (100 bp) in Reference Genome:


TGACTAAAATTAGAGATGATGTGACTGAAAAGTTGTGTGTGTATGACACGTTGATGTGATGGAAAAGGACGGAAGTTTAGATCCAAACTTTGGATCTAAA[T/C]
ACAGCCATAGTCTATTGAGGTCTAGCAGTGATTGAAGCTCTGACATTGCACTACTACCAATGTTGGGGACAAAGTAACCAAGCAATGTGTGAAGATGTGT

Reverse complement sequence

ACACATCTTCACACATTGCTTGGTTACTTTGTCCCCAACATTGGTAGTAGTGCAATGTCAGAGCTTCAATCACTGCTAGACCTCAATAGACTATGGCTGT[A/G]
TTTAGATCCAAAGTTTGGATCTAAACTTCCGTCCTTTTCCATCACATCAACGTGTCATACACACACAACTTTTCAGTCACATCATCTCTAATTTTAGTCA

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 47.70% 15.60% 1.46% 35.17% NA
All Indica  2759 71.10% 3.00% 1.92% 24.03% NA
All Japonica  1512 14.20% 35.10% 0.79% 49.87% NA
Aus  269 15.20% 22.70% 0.37% 61.71% NA
Indica I  595 45.40% 2.90% 7.90% 43.87% NA
Indica II  465 63.70% 1.90% 0.65% 33.76% NA
Indica III  913 87.30% 3.30% 0.00% 9.42% NA
Indica Intermediate  786 76.10% 3.30% 0.38% 20.23% NA
Temperate Japonica  767 2.70% 54.20% 0.52% 42.50% NA
Tropical Japonica  504 31.20% 10.50% 1.19% 57.14% NA
Japonica Intermediate  241 15.40% 25.70% 0.83% 58.09% NA
VI/Aromatic  96 1.00% 54.20% 0.00% 44.79% NA
Intermediate  90 42.20% 14.40% 3.33% 40.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1125264457 T -> DEL N N silent_mutation Average:72.207; most accessible tissue: Callus, score: 95.937 N N N N
vg1125264457 T -> C LOC_Os11g42010.1 upstream_gene_variant ; 181.0bp to feature; MODIFIER silent_mutation Average:72.207; most accessible tissue: Callus, score: 95.937 N N N N
vg1125264457 T -> C LOC_Os11g42000.1 downstream_gene_variant ; 1884.0bp to feature; MODIFIER silent_mutation Average:72.207; most accessible tissue: Callus, score: 95.937 N N N N
vg1125264457 T -> C LOC_Os11g42020.1 downstream_gene_variant ; 2910.0bp to feature; MODIFIER silent_mutation Average:72.207; most accessible tissue: Callus, score: 95.937 N N N N
vg1125264457 T -> C LOC_Os11g42010-LOC_Os11g42020 intergenic_region ; MODIFIER silent_mutation Average:72.207; most accessible tissue: Callus, score: 95.937 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)
vg1125264457 T C 0.03 0.01 0.01 0.06 0.03 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1125264457 NA 8.42E-10 mr1364 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
vg1125264457 NA 1.15E-08 mr1443 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
vg1125264457 4.91E-06 NA mr1484 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
vg1125264457 6.61E-06 NA mr1484 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
vg1125264457 2.38E-06 NA mr1530 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
vg1125264457 2.33E-06 NA mr1530 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
vg1125264457 8.30E-10 NA mr1745 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
vg1125264457 1.94E-07 NA mr1745 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
vg1125264457 2.13E-06 NA mr1530_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
vg1125264457 8.53E-06 NA mr1530_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
vg1125264457 6.98E-07 NA mr1745_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
vg1125264457 NA 1.68E-07 mr1837_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
vg1125264457 NA 9.35E-06 mr1852_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
vg1125264457 NA 1.55E-06 mr1915_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