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Detailed information for vg0103590789:

Variant ID: vg0103590789 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 3590789
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: 0.02, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


ACCACCACCACCACGACGCTGGCCCAAGGTCACACATGACAGTCGTGCGGGCGCGTGTGCTTTCACTGTACCCGGCGTCTGCGCCCATGGCTGGCTGGCC[G/A]
GACCCGGACGGGAGGGAGGGACCATCGATCGGAGCGAGAGCTGCAGCGAGGATTTATAAAACCGCACTATTATCGTGTTTATCATTAAAAAAATAATATT

Reverse complement sequence

AATATTATTTTTTTAATGATAAACACGATAATAGTGCGGTTTTATAAATCCTCGCTGCAGCTCTCGCTCCGATCGATGGTCCCTCCCTCCCGTCCGGGTC[C/T]
GGCCAGCCAGCCATGGGCGCAGACGCCGGGTACAGTGAAAGCACACGCGCCCGCACGACTGTCATGTGTGACCTTGGGCCAGCGTCGTGGTGGTGGTGGT

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 56.60% 43.00% 0.34% 0.06% NA
All Indica  2759 30.10% 69.30% 0.51% 0.11% NA
All Japonica  1512 95.20% 4.60% 0.13% 0.00% NA
Aus  269 94.10% 5.90% 0.00% 0.00% NA
Indica I  595 57.30% 41.20% 1.18% 0.34% NA
Indica II  465 9.20% 90.80% 0.00% 0.00% NA
Indica III  913 27.60% 72.10% 0.33% 0.00% NA
Indica Intermediate  786 24.70% 74.70% 0.51% 0.13% NA
Temperate Japonica  767 92.70% 7.30% 0.00% 0.00% NA
Tropical Japonica  504 97.80% 2.00% 0.20% 0.00% NA
Japonica Intermediate  241 97.90% 1.70% 0.41% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 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
vg0103590789 G -> A LOC_Os01g07510.1 downstream_gene_variant ; 2951.0bp to feature; MODIFIER silent_mutation Average:96.023; most accessible tissue: Callus, score: 99.427 N N N N
vg0103590789 G -> A LOC_Os01g07520.1 downstream_gene_variant ; 1022.0bp to feature; MODIFIER silent_mutation Average:96.023; most accessible tissue: Callus, score: 99.427 N N N N
vg0103590789 G -> A LOC_Os01g07510-LOC_Os01g07520 intergenic_region ; MODIFIER silent_mutation Average:96.023; most accessible tissue: Callus, score: 99.427 N N N N
vg0103590789 G -> DEL N N silent_mutation Average:96.023; most accessible tissue: Callus, score: 99.427 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)
vg0103590789 G A 0.04 0.03 0.03 0.02 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0103590789 NA 1.02E-08 mr1174 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
vg0103590789 NA 7.44E-07 mr1210 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
vg0103590789 NA 4.29E-06 mr1305 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
vg0103590789 NA 1.69E-07 mr1515 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
vg0103590789 7.27E-07 7.27E-07 mr1516 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
vg0103590789 NA 3.35E-07 mr1527 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
vg0103590789 NA 1.62E-08 mr1585 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
vg0103590789 NA 4.33E-06 mr1586 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
vg0103590789 1.41E-06 1.41E-06 mr1967 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
vg0103590789 NA 4.07E-06 mr1389_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