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Detailed information for vg0136299082:

Variant ID: vg0136299082 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 36299082
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.01, others allele: 0.00, population size: 68. )

Flanking Sequence (100 bp) in Reference Genome:


CTTTCTAACATTACTCACATATATATATATATATATATATATATATATATATATATATATATATATATATAAAATAGAAAGTTTTATACTGTGAAACATA[G/T]
AAAAGCAGTGAATATCCGGATGGAGGTAGTACTACTTTATTTGGTTGGTGATGGCGACGCGACGGTGTTGGGTGTGGGGGAGAGACACGGTCGCCTCCCC

Reverse complement sequence

GGGGAGGCGACCGTGTCTCTCCCCCACACCCAACACCGTCGCGTCGCCATCACCAACCAAATAAAGTAGTACTACCTCCATCCGGATATTCACTGCTTTT[C/A]
TATGTTTCACAGTATAAAACTTTCTATTTTATATATATATATATATATATATATATATATATATATATATATATATATATATGTGAGTAATGTTAGAAAG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 34.20% 0.10% 1.12% 64.58% NA
All Indica  2759 1.40% 0.00% 0.14% 98.48% NA
All Japonica  1512 94.90% 0.40% 2.98% 1.72% NA
Aus  269 0.40% 0.00% 0.00% 99.63% NA
Indica I  595 0.20% 0.00% 0.17% 99.66% NA
Indica II  465 0.40% 0.00% 0.00% 99.57% NA
Indica III  913 0.80% 0.00% 0.00% 99.23% NA
Indica Intermediate  786 3.60% 0.00% 0.38% 96.06% NA
Temperate Japonica  767 94.00% 0.30% 4.82% 0.91% NA
Tropical Japonica  504 96.60% 0.40% 0.20% 2.78% NA
Japonica Intermediate  241 94.20% 0.80% 2.90% 2.07% NA
VI/Aromatic  96 94.80% 0.00% 0.00% 5.21% NA
Intermediate  90 55.60% 0.00% 4.44% 40.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0136299082 G -> T LOC_Os01g62670.1 upstream_gene_variant ; 651.0bp to feature; MODIFIER silent_mutation Average:92.661; most accessible tissue: Minghui63 root, score: 99.011 N N N N
vg0136299082 G -> T LOC_Os01g62680.1 downstream_gene_variant ; 1174.0bp to feature; MODIFIER silent_mutation Average:92.661; most accessible tissue: Minghui63 root, score: 99.011 N N N N
vg0136299082 G -> T LOC_Os01g62670-LOC_Os01g62680 intergenic_region ; MODIFIER silent_mutation Average:92.661; most accessible tissue: Minghui63 root, score: 99.011 N N N N
vg0136299082 G -> DEL N N silent_mutation Average:92.661; most accessible tissue: Minghui63 root, score: 99.011 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)
vg0136299082 G T -0.01 -0.03 -0.03 -0.02 -0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0136299082 6.80E-07 8.02E-08 mr1113 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
vg0136299082 1.02E-06 1.19E-07 mr1117 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
vg0136299082 7.95E-06 8.39E-06 mr1119 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
vg0136299082 5.89E-07 1.51E-08 mr1240 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
vg0136299082 2.18E-07 3.89E-08 mr1496 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
vg0136299082 NA 1.53E-06 mr1113_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