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Detailed information for vg0136272218:

Variant ID: vg0136272218 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 36272218
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, A: 0.01, others allele: 0.00, population size: 123. )

Flanking Sequence (100 bp) in Reference Genome:


CCCGCATGGCCGGCTGTGGGCTGCGGCTGCTGCCGCCGGGAGGACGACGTCGATCGCGATTATAGTTTAATGGCGCGCGCAGTTGCATGTAGTTGTCGAG[G/A]
CAGCTGCTGCTGGCTGCTGCGCGCGCGGAGCGGAGGCGAAGCAATCTGGAAATTGCCATGTTTGTGAACAGGGAGCGCTGTCAGCTGTGGACCTGATCTC

Reverse complement sequence

GAGATCAGGTCCACAGCTGACAGCGCTCCCTGTTCACAAACATGGCAATTTCCAGATTGCTTCGCCTCCGCTCCGCGCGCGCAGCAGCCAGCAGCAGCTG[C/T]
CTCGACAACTACATGCAACTGCGCGCGCCATTAAACTATAATCGCGATCGACGTCGTCCTCCCGGCGGCAGCAGCCGCAGCCCACAGCCGGCCATGCGGG

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 70.20% 28.70% 1.16% 0.00% NA
All Indica  2759 50.60% 47.60% 1.81% 0.00% NA
All Japonica  1512 98.60% 1.30% 0.07% 0.00% NA
Aus  269 97.80% 1.10% 1.12% 0.00% NA
Indica I  595 45.00% 48.70% 6.22% 0.00% NA
Indica II  465 22.40% 77.20% 0.43% 0.00% NA
Indica III  913 63.50% 36.40% 0.11% 0.00% NA
Indica Intermediate  786 56.50% 42.20% 1.27% 0.00% NA
Temperate Japonica  767 99.20% 0.80% 0.00% 0.00% NA
Tropical Japonica  504 98.00% 2.00% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 1.70% 0.41% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 81.10% 17.80% 1.11% 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
vg0136272218 G -> A LOC_Os01g62630.1 upstream_gene_variant ; 2481.0bp to feature; MODIFIER silent_mutation Average:97.675; most accessible tissue: Minghui63 young leaf, score: 99.313 N N N N
vg0136272218 G -> A LOC_Os01g62640.1 downstream_gene_variant ; 1808.0bp to feature; MODIFIER silent_mutation Average:97.675; most accessible tissue: Minghui63 young leaf, score: 99.313 N N N N
vg0136272218 G -> A LOC_Os01g62630-LOC_Os01g62640 intergenic_region ; MODIFIER silent_mutation Average:97.675; most accessible tissue: Minghui63 young leaf, score: 99.313 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)
vg0136272218 G A -0.08 0.0 0.0 0.0 0.02 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0136272218 NA 3.96E-07 mr1133 Ind_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
vg0136272218 NA 7.29E-06 mr1212 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
vg0136272218 4.02E-06 NA mr1517 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
vg0136272218 1.98E-06 2.62E-08 mr1517 Ind_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
vg0136272218 NA 4.95E-06 mr1538 Ind_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
vg0136272218 NA 3.46E-06 mr1621 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
vg0136272218 NA 3.72E-08 mr1666 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
vg0136272218 NA 2.20E-06 mr1727 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
vg0136272218 NA 3.11E-07 mr1761 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
vg0136272218 NA 7.42E-07 mr1798 Ind_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
vg0136272218 NA 3.89E-06 mr1872 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
vg0136272218 NA 5.70E-07 mr1212_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
vg0136272218 NA 7.31E-06 mr1538_2 Ind_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
vg0136272218 NA 9.92E-06 mr1908_2 Ind_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