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Detailed information for vg0123735612:

Variant ID: vg0123735612 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 23735612
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.63, A: 0.37, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


GGAGCCTCTCTGTTTGAGCCGCTGCGGTGCGCTGAAACAGCCATGAAAACAGCCACAGGTGGATCCCTACAGGCTACAGCGCCACACTGCAAGTCTGCAG[A/C]
GGCTGGGCGAAAAGATGATGATGGCATCGGGGTCGCCGCGTCCGTCCACTGCAGCTGCTTTCCTTTCACTCGCCATTCCTCACACTCACCTCGCCCACGG

Reverse complement sequence

CCGTGGGCGAGGTGAGTGTGAGGAATGGCGAGTGAAAGGAAAGCAGCTGCAGTGGACGGACGCGGCGACCCCGATGCCATCATCATCTTTTCGCCCAGCC[T/G]
CTGCAGACTTGCAGTGTGGCGCTGTAGCCTGTAGGGATCCACCTGTGGCTGTTTTCATGGCTGTTTCAGCGCACCGCAGCGGCTCAAACAGAGAGGCTCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.50% 25.40% 0.11% 0.00% NA
All Indica  2759 97.70% 2.30% 0.04% 0.00% NA
All Japonica  1512 27.10% 72.70% 0.26% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 97.30% 2.50% 0.17% 0.00% NA
Indica II  465 97.80% 2.20% 0.00% 0.00% NA
Indica III  913 99.60% 0.40% 0.00% 0.00% NA
Indica Intermediate  786 95.70% 4.30% 0.00% 0.00% NA
Temperate Japonica  767 14.70% 84.90% 0.39% 0.00% NA
Tropical Japonica  504 39.50% 60.30% 0.20% 0.00% NA
Japonica Intermediate  241 40.20% 59.80% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 65.60% 34.40% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0123735612 A -> C LOC_Os01g41870.1 downstream_gene_variant ; 2532.0bp to feature; MODIFIER silent_mutation Average:87.578; most accessible tissue: Zhenshan97 panicle, score: 97.869 N N N N
vg0123735612 A -> C LOC_Os01g41870.2 downstream_gene_variant ; 2535.0bp to feature; MODIFIER silent_mutation Average:87.578; most accessible tissue: Zhenshan97 panicle, score: 97.869 N N N N
vg0123735612 A -> C LOC_Os01g41870-LOC_Os01g41880 intergenic_region ; MODIFIER silent_mutation Average:87.578; most accessible tissue: Zhenshan97 panicle, score: 97.869 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)
vg0123735612 A C 0.05 0.02 0.02 -0.05 -0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0123735612 7.90E-07 NA mr1071 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
vg0123735612 1.69E-07 NA mr1080 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
vg0123735612 9.53E-06 NA mr1080 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
vg0123735612 4.18E-07 NA mr1100 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
vg0123735612 NA 1.30E-06 mr1100 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
vg0123735612 2.03E-08 NA mr1140 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
vg0123735612 8.92E-07 NA mr1203 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
vg0123735612 NA 9.69E-17 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
vg0123735612 NA 1.18E-13 mr1592 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
vg0123735612 2.20E-08 NA mr1618 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
vg0123735612 6.13E-06 6.13E-06 mr1795 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
vg0123735612 NA 2.54E-06 mr1837 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
vg0123735612 NA 4.96E-11 mr1945 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