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Detailed information for vg0308212263:

Variant ID: vg0308212263 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 8212263
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGAGCCATTAGCTCATGATTAATTAAGTATTAACTATTTTAAATTTCAAAAATGAATTAATATGATTTTTTAAAACAATTTTCCTATTTAATTTATTTT[A/T]
AAAAAACGCACCGTTTAGTAATTTGAAAAGCGTGCGCGCGGAAAACAAGACTCAATCTCCCCTATCACCGAACAGAGCCTAAGTTTATCCACTTGGACAG

Reverse complement sequence

CTGTCCAAGTGGATAAACTTAGGCTCTGTTCGGTGATAGGGGAGATTGAGTCTTGTTTTCCGCGCGCACGCTTTTCAAATTACTAAACGGTGCGTTTTTT[T/A]
AAAATAAATTAAATAGGAAAATTGTTTTAAAAAATCATATTAATTCATTTTTGAAATTTAAAATAGTTAATACTTAATTAATCATGAGCTAATGGCTCAT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.80% 15.10% 0.08% 0.00% NA
All Indica  2759 99.30% 0.60% 0.11% 0.00% NA
All Japonica  1512 55.60% 44.40% 0.07% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 99.40% 0.60% 0.00% 0.00% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 98.70% 1.00% 0.25% 0.00% NA
Temperate Japonica  767 54.90% 45.10% 0.00% 0.00% NA
Tropical Japonica  504 42.70% 57.30% 0.00% 0.00% NA
Japonica Intermediate  241 84.60% 14.90% 0.41% 0.00% NA
VI/Aromatic  96 86.50% 13.50% 0.00% 0.00% NA
Intermediate  90 85.60% 14.40% 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
vg0308212263 A -> T LOC_Os03g15033.1 upstream_gene_variant ; 350.0bp to feature; MODIFIER silent_mutation Average:99.675; most accessible tissue: Callus, score: 99.867 N N N N
vg0308212263 A -> T LOC_Os03g15040.1 upstream_gene_variant ; 81.0bp to feature; MODIFIER silent_mutation Average:99.675; most accessible tissue: Callus, score: 99.867 N N N N
vg0308212263 A -> T LOC_Os03g15040.2 upstream_gene_variant ; 81.0bp to feature; MODIFIER silent_mutation Average:99.675; most accessible tissue: Callus, score: 99.867 N N N N
vg0308212263 A -> T LOC_Os03g15033-LOC_Os03g15040 intergenic_region ; MODIFIER silent_mutation Average:99.675; most accessible tissue: Callus, score: 99.867 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)
vg0308212263 A T -0.02 -0.02 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0308212263 NA 5.22E-07 mr1779 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
vg0308212263 4.52E-06 1.65E-09 mr1020_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
vg0308212263 NA 4.32E-10 mr1349_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
vg0308212263 4.59E-06 5.84E-09 mr1355_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
vg0308212263 NA 2.22E-06 mr1470_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
vg0308212263 NA 7.01E-08 mr1576_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
vg0308212263 NA 1.47E-08 mr1749_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
vg0308212263 NA 2.98E-10 mr1821_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
vg0308212263 NA 1.71E-06 mr1899_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