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Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0506942006:

Variant ID: vg0506942006 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 6942006
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAATAGTTACTTAATTAAACTTGATAGGGCAAAAGGAGGACGATGAACAACTAAATCTCATCTCTCCAAACCCCTAAAATCATAGTATTCGAGGAGGAAG[A/T]
GGATGAGTATACGTACTCGCGTTCCTTGGACTCTTCTCTACTTCCTCCAAATAACCACACTCTACTCTCTCTCTACCACAAATTACCATTTCAGAATAGT

Reverse complement sequence

ACTATTCTGAAATGGTAATTTGTGGTAGAGAGAGAGTAGAGTGTGGTTATTTGGAGGAAGTAGAGAAGAGTCCAAGGAACGCGAGTACGTATACTCATCC[T/A]
CTTCCTCCTCGAATACTATGATTTTAGGGGTTTGGAGAGATGAGATTTAGTTGTTCATCGTCCTCCTTTTGCCCTATCAAGTTTAATTAAGTAACTATTA

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 54.00% 16.00% 12.15% 17.88% NA
All Indica  2759 30.50% 25.30% 15.88% 28.27% NA
All Japonica  1512 97.20% 0.50% 2.05% 0.26% NA
Aus  269 31.60% 13.40% 34.94% 20.07% NA
Indica I  595 17.00% 27.90% 25.55% 29.58% NA
Indica II  465 50.80% 19.80% 7.96% 21.51% NA
Indica III  913 33.40% 24.60% 10.62% 31.33% NA
Indica Intermediate  786 25.40% 27.50% 19.34% 27.74% NA
Temperate Japonica  767 98.70% 0.50% 0.26% 0.52% NA
Tropical Japonica  504 98.20% 0.60% 1.19% 0.00% NA
Japonica Intermediate  241 90.00% 0.40% 9.54% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 67.80% 13.30% 11.11% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0506942006 A -> T LOC_Os05g12150.1 3_prime_UTR_variant ; 119.0bp to feature; MODIFIER silent_mutation Average:80.895; most accessible tissue: Callus, score: 96.414 N N N N
vg0506942006 A -> T LOC_Os05g12140.1 upstream_gene_variant ; 2235.0bp to feature; MODIFIER silent_mutation Average:80.895; most accessible tissue: Callus, score: 96.414 N N N N
vg0506942006 A -> T LOC_Os05g12140.2 upstream_gene_variant ; 2235.0bp to feature; MODIFIER silent_mutation Average:80.895; most accessible tissue: Callus, score: 96.414 N N N N
vg0506942006 A -> DEL N N silent_mutation Average:80.895; most accessible tissue: Callus, score: 96.414 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)
vg0506942006 A T 0.04 0.05 0.05 0.0 0.02 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0506942006 6.58E-08 NA mr1039 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
vg0506942006 7.45E-09 6.52E-12 mr1039 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
vg0506942006 4.84E-06 4.84E-06 mr1578 Ind_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
vg0506942006 NA 1.95E-14 mr1593 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
vg0506942006 NA 2.30E-11 mr1904 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
vg0506942006 1.78E-11 NA mr1039_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
vg0506942006 6.27E-12 3.70E-13 mr1039_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
vg0506942006 NA 1.10E-15 mr1593_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
vg0506942006 NA 2.21E-08 mr1645_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