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Detailed information for vg0122562214:

Variant ID: vg0122562214 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 22562214
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.95, A: 0.04, others allele: 0.00, population size: 80. )

Flanking Sequence (100 bp) in Reference Genome:


CAATGTTAAATCTAACATATATAGTAGATTGGCTATAAGTTTATCTTTATTTTCTTCATCCTCTCTCTTTCTCTCACCATGAATTTAATGCATATTTCTT[A/G]
GAATTTATGTGCAGTTAGCTCTTGCATAAGAACCAATACTCCCCACTTTTGTTTATCTCTCTCTTCCATATAAGCATATAGCTTACTTATAGCCCACTAT

Reverse complement sequence

ATAGTGGGCTATAAGTAAGCTATATGCTTATATGGAAGAGAGAGATAAACAAAAGTGGGGAGTATTGGTTCTTATGCAAGAGCTAACTGCACATAAATTC[T/C]
AAGAAATATGCATTAAATTCATGGTGAGAGAAAGAGAGAGGATGAAGAAAATAAAGATAAACTTATAGCCAATCTACTATATATGTTAGATTTAACATTG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.20% 10.50% 3.39% 10.90% NA
All Indica  2759 88.80% 0.70% 1.41% 9.03% NA
All Japonica  1512 57.40% 30.80% 7.28% 4.50% NA
Aus  269 54.30% 1.10% 1.49% 43.12% NA
Indica I  595 90.90% 0.20% 3.19% 5.71% NA
Indica II  465 91.40% 1.90% 1.94% 4.73% NA
Indica III  913 87.40% 0.10% 0.22% 12.27% NA
Indica Intermediate  786 87.40% 1.10% 1.15% 10.31% NA
Temperate Japonica  767 35.30% 54.00% 10.43% 0.26% NA
Tropical Japonica  504 83.50% 1.40% 3.17% 11.90% NA
Japonica Intermediate  241 73.00% 18.70% 5.81% 2.49% NA
VI/Aromatic  96 17.70% 0.00% 3.12% 79.17% NA
Intermediate  90 78.90% 10.00% 4.44% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0122562214 A -> G LOC_Os01g40000.1 upstream_gene_variant ; 487.0bp to feature; MODIFIER silent_mutation Average:81.303; most accessible tissue: Zhenshan97 panicle, score: 93.244 N N N N
vg0122562214 A -> G LOC_Os01g40010.1 downstream_gene_variant ; 4533.0bp to feature; MODIFIER silent_mutation Average:81.303; most accessible tissue: Zhenshan97 panicle, score: 93.244 N N N N
vg0122562214 A -> G LOC_Os01g40000-LOC_Os01g40010 intergenic_region ; MODIFIER silent_mutation Average:81.303; most accessible tissue: Zhenshan97 panicle, score: 93.244 N N N N
vg0122562214 A -> DEL N N silent_mutation Average:81.303; most accessible tissue: Zhenshan97 panicle, score: 93.244 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)
vg0122562214 A G -0.03 -0.02 -0.02 -0.04 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0122562214 NA 1.21E-06 mr1013 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
vg0122562214 NA 2.07E-06 mr1031 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
vg0122562214 NA 1.23E-12 mr1056 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
vg0122562214 NA 2.03E-06 mr1056 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
vg0122562214 NA 9.42E-09 mr1163 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
vg0122562214 NA 7.85E-21 mr1010_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
vg0122562214 NA 2.90E-09 mr1010_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
vg0122562214 4.83E-07 1.62E-14 mr1011_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
vg0122562214 8.43E-06 3.73E-10 mr1011_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
vg0122562214 NA 1.83E-15 mr1013_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
vg0122562214 NA 4.54E-07 mr1013_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
vg0122562214 2.45E-06 3.32E-16 mr1031_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
vg0122562214 NA 4.79E-10 mr1031_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
vg0122562214 NA 3.76E-06 mr1268_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