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Detailed information for vg1126880136:

Variant ID: vg1126880136 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 26880136
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.93, T: 0.05, others allele: 0.00, population size: 41. )

Flanking Sequence (100 bp) in Reference Genome:


CCACAGCGCCATGGCAGTATCTCAAGTTCTCAACTCTCGGGAGGATTGTGTTCTTGCTACCAAATTTTCGCGGAATTATGGATGGACAAAGGGTCGGTCC[A/T]
GGGAAGGAGATGACTGACGCGGTGAGAGGAATTTTCCTGGAAGTGGGTTGGTGTGGACTGTGAAATGATTTTTTTTTTCTTTAAGGCCGACAAAAGCTTT

Reverse complement sequence

AAAGCTTTTGTCGGCCTTAAAGAAAAAAAAAATCATTTCACAGTCCACACCAACCCACTTCCAGGAAAATTCCTCTCACCGCGTCAGTCATCTCCTTCCC[T/A]
GGACCGACCCTTTGTCCATCCATAATTCCGCGAAAATTTGGTAGCAAGAACACAATCCTCCCGAGAGTTGAGAACTTGAGATACTGCCATGGCGCTGTGG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 52.20% 36.50% 3.89% 7.38% NA
All Indica  2759 48.10% 33.60% 6.31% 11.92% NA
All Japonica  1512 56.00% 43.70% 0.26% 0.13% NA
Aus  269 78.10% 16.00% 0.00% 5.95% NA
Indica I  595 46.70% 52.30% 0.34% 0.67% NA
Indica II  465 37.40% 26.90% 22.15% 13.55% NA
Indica III  913 55.50% 23.30% 2.19% 18.95% NA
Indica Intermediate  786 46.90% 35.50% 6.23% 11.32% NA
Temperate Japonica  767 27.50% 72.40% 0.00% 0.13% NA
Tropical Japonica  504 91.10% 8.30% 0.40% 0.20% NA
Japonica Intermediate  241 73.00% 26.10% 0.83% 0.00% NA
VI/Aromatic  96 31.20% 64.60% 4.17% 0.00% NA
Intermediate  90 60.00% 35.60% 2.22% 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
vg1126880136 A -> T LOC_Os11g44420.1 upstream_gene_variant ; 4019.0bp to feature; MODIFIER silent_mutation Average:94.417; most accessible tissue: Minghui63 root, score: 99.082 N N N N
vg1126880136 A -> T LOC_Os11g44430.1 upstream_gene_variant ; 89.0bp to feature; MODIFIER silent_mutation Average:94.417; most accessible tissue: Minghui63 root, score: 99.082 N N N N
vg1126880136 A -> T LOC_Os11g44440.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER silent_mutation Average:94.417; most accessible tissue: Minghui63 root, score: 99.082 N N N N
vg1126880136 A -> T LOC_Os11g44430-LOC_Os11g44440 intergenic_region ; MODIFIER silent_mutation Average:94.417; most accessible tissue: Minghui63 root, score: 99.082 N N N N
vg1126880136 A -> DEL N N silent_mutation Average:94.417; most accessible tissue: Minghui63 root, score: 99.082 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)
vg1126880136 A T -0.04 -0.07 -0.04 -0.02 -0.05 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126880136 NA 6.70E-06 mr1164 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
vg1126880136 NA 4.50E-06 mr1182 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
vg1126880136 NA 3.79E-07 mr1330 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
vg1126880136 NA 2.28E-08 mr1332 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
vg1126880136 NA 4.16E-07 mr1617 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
vg1126880136 NA 3.20E-07 mr1627 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
vg1126880136 NA 4.05E-06 mr1650 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
vg1126880136 NA 7.07E-06 mr1057_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
vg1126880136 NA 4.43E-06 mr1161_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
vg1126880136 NA 2.66E-06 mr1331_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