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Detailed information for vg0601563713:

Variant ID: vg0601563713 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 1563713
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AACTTCCCCTAGTAAAGCGGATTCAAGATCATGTTGGTAAAGTGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAC[G/A]
ACCTTGGGCCAATTGGCACTCTCAGGTTGTCTAGTCTAAACTCTCAATCGCCATTGAAGACGGTCGCACTAGTCAGTATCGGTACCACTCAGCAAAGGCA

Reverse complement sequence

TGCCTTTGCTGAGTGGTACCGATACTGACTAGTGCGACCGTCTTCAATGGCGATTGAGAGTTTAGACTAGACAACCTGAGAGTGCCAATTGGCCCAAGGT[C/T]
GTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCACTTTACCAACATGATCTTGAATCCGCTTTACTAGGGGAAGTT

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 91.20% 6.50% 0.04% 2.26% NA
All Indica  2759 94.70% 1.70% 0.07% 3.48% NA
All Japonica  1512 87.00% 13.00% 0.00% 0.00% NA
Aus  269 97.40% 0.40% 0.00% 2.23% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 81.90% 6.00% 0.43% 11.61% NA
Indica III  913 99.10% 0.30% 0.00% 0.55% NA
Indica Intermediate  786 93.10% 2.20% 0.00% 4.71% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 68.10% 31.90% 0.00% 0.00% NA
Japonica Intermediate  241 85.90% 14.10% 0.00% 0.00% NA
VI/Aromatic  96 54.20% 45.80% 0.00% 0.00% NA
Intermediate  90 75.60% 18.90% 0.00% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0601563713 G -> A LOC_Os06g03890.1 upstream_gene_variant ; 1864.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03860.1 downstream_gene_variant ; 2550.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03880.1 downstream_gene_variant ; 1197.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03860.4 downstream_gene_variant ; 3987.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03860.2 downstream_gene_variant ; 2550.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03860.3 downstream_gene_variant ; 2550.0bp to feature; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> A LOC_Os06g03860-LOC_Os06g03880 intergenic_region ; MODIFIER silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0601563713 G -> DEL N N silent_mutation Average:84.14; most accessible tissue: Minghui63 young leaf, score: 92.775 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)
vg0601563713 G A 0.03 0.02 0.02 0.03 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0601563713 2.63E-06 NA mr1040_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
vg0601563713 2.11E-06 NA mr1070_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
vg0601563713 8.74E-06 NA mr1107_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
vg0601563713 9.58E-06 NA mr1155_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
vg0601563713 3.88E-06 NA mr1208_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
vg0601563713 NA 4.65E-08 mr1304_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
vg0601563713 2.31E-06 2.31E-06 mr1367_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
vg0601563713 NA 4.37E-08 mr1408_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
vg0601563713 4.26E-06 NA mr1606_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
vg0601563713 6.03E-07 NA mr1846_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
vg0601563713 9.51E-06 9.51E-06 mr1846_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
vg0601563713 NA 2.50E-06 mr1852_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