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Detailed information for vg0606257199:

Variant ID: vg0606257199 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 6257199
Reference Allele: GAlternative Allele: A,T
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.03, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


TCATTGACATGGTTTAACCAGCTGAGTCGTCATGTGGGACCAACATGTCAGCGCCCCCATATCTTTATCCTCTAAGTTCAAGCGGGGAAGACGGCGAGGC[G/A,T]
GTAGCGTGGCCTCTAGGCGGAGTGACGACGGTGGCCTTTAGGTAGAGCAATGGCGTGGCCCAAGGCAGACAGCCACTAGTCAGGACATCGACCACTCCAT

Reverse complement sequence

ATGGAGTGGTCGATGTCCTGACTAGTGGCTGTCTGCCTTGGGCCACGCCATTGCTCTACCTAAAGGCCACCGTCGTCACTCCGCCTAGAGGCCACGCTAC[C/T,A]
GCCTCGCCGTCTTCCCCGCTTGAACTTAGAGGATAAAGATATGGGGGCGCTGACATGTTGGTCCCACATGACGACTCAGCTGGTTAAACCATGTCAATGA

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 77.90% 21.80% 0.11% 0.13% T: 0.02%
All Indica  2759 74.80% 24.80% 0.18% 0.22% T: 0.04%
All Japonica  1512 79.00% 21.00% 0.00% 0.00% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 88.90% 10.60% 0.34% 0.17% NA
Indica II  465 43.90% 55.50% 0.22% 0.43% NA
Indica III  913 80.00% 19.80% 0.00% 0.11% T: 0.11%
Indica Intermediate  786 76.30% 23.20% 0.25% 0.25% NA
Temperate Japonica  767 98.70% 1.30% 0.00% 0.00% NA
Tropical Japonica  504 46.60% 53.40% 0.00% 0.00% NA
Japonica Intermediate  241 83.80% 16.20% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 72.20% 27.80% 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
vg0606257199 G -> T LOC_Os06g11812.1 upstream_gene_variant ; 2682.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> T LOC_Os06g11800.1 downstream_gene_variant ; 3491.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> T LOC_Os06g11820.1 downstream_gene_variant ; 447.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> T LOC_Os06g11830.1 downstream_gene_variant ; 1233.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> T LOC_Os06g11820-LOC_Os06g11830 intergenic_region ; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> A LOC_Os06g11812.1 upstream_gene_variant ; 2682.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> A LOC_Os06g11800.1 downstream_gene_variant ; 3491.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> A LOC_Os06g11820.1 downstream_gene_variant ; 447.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> A LOC_Os06g11830.1 downstream_gene_variant ; 1233.0bp to feature; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> A LOC_Os06g11820-LOC_Os06g11830 intergenic_region ; MODIFIER silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 N N N N
vg0606257199 G -> DEL N N silent_mutation Average:74.445; most accessible tissue: Callus, score: 91.997 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)
vg0606257199 G A -0.01 -0.02 -0.01 0.0 0.0 0.0
vg0606257199 G T 0.0 -0.01 0.0 0.01 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0606257199 NA 9.24E-07 mr1006_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
vg0606257199 NA 6.53E-06 mr1268_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
vg0606257199 1.37E-06 1.37E-06 mr1335_2 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
vg0606257199 NA 5.03E-08 mr1798_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