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Detailed information for vg1000058548:

Variant ID: vg1000058548 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 58548
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.88, G: 0.12, others allele: 0.00, population size: 58. )

Flanking Sequence (100 bp) in Reference Genome:


GCTACTTCTCACAGACCACCTGCGCTGCAGCTCGTGCTTGAGCATCTTTACATACAGGTACAATAAAAACTATAAGCCAGCTATAAACATATTTTAAAAA[A/G]
ATAAAGAAAGAGATAGAGCAGCAACAGGCTACAAATTTATAGCCAGCTCCAAAACATAATGTGCATATGATAGGTAGGACTAGATATTAATAATACAGTA

Reverse complement sequence

TACTGTATTATTAATATCTAGTCCTACCTATCATATGCACATTATGTTTTGGAGCTGGCTATAAATTTGTAGCCTGTTGCTGCTCTATCTCTTTCTTTAT[T/C]
TTTTTAAAATATGTTTATAGCTGGCTTATAGTTTTTATTGTACCTGTATGTAAAGATGCTCAAGCACGAGCTGCAGCGCAGGTGGTCTGTGAGAAGTAGC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 55.30% 43.80% 0.63% 0.28% NA
All Indica  2759 33.00% 66.10% 0.51% 0.36% NA
All Japonica  1512 96.60% 2.40% 0.86% 0.13% NA
Aus  269 66.50% 33.10% 0.37% 0.00% NA
Indica I  595 37.50% 61.80% 0.34% 0.34% NA
Indica II  465 41.70% 57.00% 0.65% 0.65% NA
Indica III  913 28.90% 70.40% 0.55% 0.11% NA
Indica Intermediate  786 29.30% 69.70% 0.51% 0.51% NA
Temperate Japonica  767 96.70% 1.80% 1.43% 0.00% NA
Tropical Japonica  504 96.60% 3.20% 0.00% 0.20% NA
Japonica Intermediate  241 95.90% 2.90% 0.83% 0.41% NA
VI/Aromatic  96 11.50% 88.50% 0.00% 0.00% NA
Intermediate  90 60.00% 36.70% 2.22% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1000058548 A -> G LOC_Os10g01044.1 upstream_gene_variant ; 211.0bp to feature; MODIFIER silent_mutation Average:95.162; most accessible tissue: Zhenshan97 young leaf, score: 98.014 N N N N
vg1000058548 A -> G LOC_Os10g01044.2 upstream_gene_variant ; 211.0bp to feature; MODIFIER silent_mutation Average:95.162; most accessible tissue: Zhenshan97 young leaf, score: 98.014 N N N N
vg1000058548 A -> G LOC_Os10g01044.3 upstream_gene_variant ; 210.0bp to feature; MODIFIER silent_mutation Average:95.162; most accessible tissue: Zhenshan97 young leaf, score: 98.014 N N N N
vg1000058548 A -> G LOC_Os10g01044-LOC_Os10g01060 intergenic_region ; MODIFIER silent_mutation Average:95.162; most accessible tissue: Zhenshan97 young leaf, score: 98.014 N N N N
vg1000058548 A -> DEL N N silent_mutation Average:95.162; most accessible tissue: Zhenshan97 young leaf, score: 98.014 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)
vg1000058548 A G 0.03 0.03 0.01 -0.03 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1000058548 2.00E-06 NA mr1168 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
vg1000058548 NA 2.28E-07 mr1168 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
vg1000058548 3.51E-07 NA mr1383 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
vg1000058548 2.65E-06 6.48E-08 mr1383 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
vg1000058548 NA 2.47E-13 mr1449 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
vg1000058548 NA 1.65E-06 mr1486 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
vg1000058548 1.83E-06 8.50E-07 mr1158_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
vg1000058548 6.95E-06 1.27E-07 mr1158_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
vg1000058548 1.38E-07 NA mr1168_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
vg1000058548 4.66E-06 3.47E-09 mr1168_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
vg1000058548 7.62E-07 NA mr1383_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
vg1000058548 NA 1.20E-06 mr1486_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
vg1000058548 NA 4.06E-08 mr1855_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