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Detailed information for vg1126583092:

Variant ID: vg1126583092 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 26583092
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.89, C: 0.11, others allele: 0.00, population size: 73. )

Flanking Sequence (100 bp) in Reference Genome:


CAGAATAAGTCTACTCTTAGTCCCTCATATCTTTGAGCTGTCTTGTATGGTTAGAATAAATCTATTTTGTGCCCCTCATCTCTTTGGGCCGTGCCTCATA[T/C]
GGCTAGATTAAATCTATTTGAGCTCCTTGTTGTTAGACCGGATCGTGCCGGGCCAGCATATCGTGCCAAGAAAGAGACCCAAGCACAAACCAACCGTCGG

Reverse complement sequence

CCGACGGTTGGTTTGTGCTTGGGTCTCTTTCTTGGCACGATATGCTGGCCCGGCACGATCCGGTCTAACAACAAGGAGCTCAAATAGATTTAATCTAGCC[A/G]
TATGAGGCACGGCCCAAAGAGATGAGGGGCACAAAATAGATTTATTCTAACCATACAAGACAGCTCAAAGATATGAGGGACTAAGAGTAGACTTATTCTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 37.30% 6.10% 1.06% 55.54% NA
All Indica  2759 31.60% 10.30% 1.41% 56.61% NA
All Japonica  1512 50.30% 0.00% 0.53% 49.21% NA
Aus  269 27.10% 0.00% 0.74% 72.12% NA
Indica I  595 39.20% 40.50% 0.67% 19.66% NA
Indica II  465 29.90% 0.60% 0.65% 68.82% NA
Indica III  913 22.00% 0.20% 2.52% 75.25% NA
Indica Intermediate  786 38.20% 5.00% 1.15% 55.73% NA
Temperate Japonica  767 75.40% 0.00% 0.39% 24.25% NA
Tropical Japonica  504 18.70% 0.00% 0.60% 80.75% NA
Japonica Intermediate  241 36.50% 0.00% 0.83% 62.66% NA
VI/Aromatic  96 12.50% 0.00% 0.00% 87.50% NA
Intermediate  90 48.90% 4.40% 1.11% 45.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126583092 T -> DEL N N silent_mutation Average:85.521; most accessible tissue: Minghui63 young leaf, score: 94.165 N N N N
vg1126583092 T -> C LOC_Os11g43990.1 upstream_gene_variant ; 907.0bp to feature; MODIFIER silent_mutation Average:85.521; most accessible tissue: Minghui63 young leaf, score: 94.165 N N N N
vg1126583092 T -> C LOC_Os11g44000.1 upstream_gene_variant ; 641.0bp to feature; MODIFIER silent_mutation Average:85.521; most accessible tissue: Minghui63 young leaf, score: 94.165 N N N N
vg1126583092 T -> C LOC_Os11g44014.1 downstream_gene_variant ; 4234.0bp to feature; MODIFIER silent_mutation Average:85.521; most accessible tissue: Minghui63 young leaf, score: 94.165 N N N N
vg1126583092 T -> C LOC_Os11g43990-LOC_Os11g44000 intergenic_region ; MODIFIER silent_mutation Average:85.521; most accessible tissue: Minghui63 young leaf, score: 94.165 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)
vg1126583092 T C 0.0 0.0 0.01 0.0 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126583092 NA 2.75E-07 mr1517_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
vg1126583092 2.47E-06 2.47E-06 mr1541_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