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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0226766538:

Variant ID: vg0226766538 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 26766538
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, C: 0.01, others allele: 0.00, population size: 111. )

Flanking Sequence (100 bp) in Reference Genome:


GGGGGATCGTCGAGGACACCACGACAGAAAGGAAGCGAAGCGCCGATCCCTTCTCTGCTTCGCAAGGCTTTTGCTGTTTAGTTTGGCTTTTTGCTTGCAG[C/G]
CTTGCAGTTGCAGGGCTTTGAGCCTGTGCCAAGGGCAAATTAACTCTGAAGTTTGTTTCGTAGACGTAGTTTTGAGCCTTTGCCAAGGGCAAAACCGATC

Reverse complement sequence

GATCGGTTTTGCCCTTGGCAAAGGCTCAAAACTACGTCTACGAAACAAACTTCAGAGTTAATTTGCCCTTGGCACAGGCTCAAAGCCCTGCAACTGCAAG[G/C]
CTGCAAGCAAAAAGCCAAACTAAACAGCAAAAGCCTTGCGAAGCAGAGAAGGGATCGGCGCTTCGCTTCCTTTCTGTCGTGGTGTCCTCGACGATCCCCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.50% 16.40% 0.11% 0.00% NA
All Indica  2759 96.20% 3.70% 0.14% 0.00% NA
All Japonica  1512 63.00% 37.00% 0.00% 0.00% NA
Aus  269 97.80% 2.20% 0.00% 0.00% NA
Indica I  595 91.90% 7.70% 0.34% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 98.10% 1.80% 0.11% 0.00% NA
Indica Intermediate  786 95.20% 4.70% 0.13% 0.00% NA
Temperate Japonica  767 58.70% 41.30% 0.00% 0.00% NA
Tropical Japonica  504 70.80% 29.20% 0.00% 0.00% NA
Japonica Intermediate  241 60.60% 39.40% 0.00% 0.00% NA
VI/Aromatic  96 13.50% 85.40% 1.04% 0.00% NA
Intermediate  90 70.00% 30.00% 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
vg0226766538 C -> G LOC_Os02g44220.1 upstream_gene_variant ; 50.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44235.1 downstream_gene_variant ; 1065.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44230.1 downstream_gene_variant ; 1065.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44230.2 downstream_gene_variant ; 1065.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44230.3 downstream_gene_variant ; 1065.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44230.4 downstream_gene_variant ; 1065.0bp to feature; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 N N N N
vg0226766538 C -> G LOC_Os02g44220-LOC_Os02g44235 intergenic_region ; MODIFIER silent_mutation Average:95.042; most accessible tissue: Callus, score: 96.993 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)
vg0226766538 C G -0.04 -0.03 -0.03 -0.03 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0226766538 NA 7.71E-14 mr1062 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
vg0226766538 NA 2.25E-17 mr1062_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
vg0226766538 NA 2.56E-06 mr1227_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
vg0226766538 NA 1.38E-06 mr1355_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
vg0226766538 NA 4.11E-08 mr1576_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
vg0226766538 NA 6.91E-13 mr1666_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
vg0226766538 NA 4.80E-09 mr1709_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
vg0226766538 NA 3.03E-11 mr1761_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
vg0226766538 NA 3.22E-11 mr1765_2 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
vg0226766538 NA 6.15E-06 mr1765_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
vg0226766538 NA 5.51E-08 mr1821_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