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Detailed information for vg1219787869:

Variant ID: vg1219787869 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19787869
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.91, T: 0.09, others allele: 0.00, population size: 227. )

Flanking Sequence (100 bp) in Reference Genome:


TATCAATTTTCTCGTGTAAACTTCTAATCCTTTTCCCAGGAATTATCAAACAAGCCGTCGGAGTACTTGTTTGCGTCTTGTCAAATGCCGTGACAGGATA[A/T]
AACCAGGTATCGTGATCTTGTGACTGAAAGAACATTAGAGGGTTAGATTAGATTAAGACAACCTTGATTTGACACTTGGGGCCAAGCAGAGAAGAGAATT

Reverse complement sequence

AATTCTCTTCTCTGCTTGGCCCCAAGTGTCAAATCAAGGTTGTCTTAATCTAATCTAACCCTCTAATGTTCTTTCAGTCACAAGATCACGATACCTGGTT[T/A]
TATCCTGTCACGGCATTTGACAAGACGCAAACAAGTACTCCGACGGCTTGTTTGATAATTCCTGGGAAAAGGATTAGAAGTTTACACGAGAAAATTGATA

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 65.40% 34.10% 0.23% 0.32% NA
All Indica  2759 44.20% 54.90% 0.40% 0.54% NA
All Japonica  1512 98.10% 1.90% 0.00% 0.00% NA
Aus  269 82.50% 17.50% 0.00% 0.00% NA
Indica I  595 64.00% 35.50% 0.34% 0.17% NA
Indica II  465 9.00% 89.90% 0.43% 0.65% NA
Indica III  913 52.10% 46.70% 0.33% 0.88% NA
Indica Intermediate  786 40.70% 58.40% 0.51% 0.38% NA
Temperate Japonica  767 98.80% 1.20% 0.00% 0.00% NA
Tropical Japonica  504 96.80% 3.20% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 82.20% 17.80% 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
vg1219787869 A -> DEL N N silent_mutation Average:86.88; most accessible tissue: Minghui63 flag leaf, score: 96.689 N N N N
vg1219787869 A -> T LOC_Os12g32770.1 upstream_gene_variant ; 4163.0bp to feature; MODIFIER silent_mutation Average:86.88; most accessible tissue: Minghui63 flag leaf, score: 96.689 N N N N
vg1219787869 A -> T LOC_Os12g32750.1 downstream_gene_variant ; 1282.0bp to feature; MODIFIER silent_mutation Average:86.88; most accessible tissue: Minghui63 flag leaf, score: 96.689 N N N N
vg1219787869 A -> T LOC_Os12g32760.1 downstream_gene_variant ; 440.0bp to feature; MODIFIER silent_mutation Average:86.88; most accessible tissue: Minghui63 flag leaf, score: 96.689 N N N N
vg1219787869 A -> T LOC_Os12g32750-LOC_Os12g32760 intergenic_region ; MODIFIER silent_mutation Average:86.88; most accessible tissue: Minghui63 flag leaf, score: 96.689 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)
vg1219787869 A T 0.02 -0.06 -0.05 0.0 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1219787869 2.48E-06 NA mr1201 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
vg1219787869 NA 5.72E-08 mr1084_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
vg1219787869 NA 6.51E-08 mr1205_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
vg1219787869 NA 1.44E-08 mr1319_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
vg1219787869 NA 4.98E-07 mr1418_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
vg1219787869 NA 1.14E-06 mr1488_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
vg1219787869 NA 6.84E-06 mr1492_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
vg1219787869 NA 3.64E-12 mr1636_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
vg1219787869 NA 3.11E-09 mr1659_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
vg1219787869 NA 1.62E-07 mr1779_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
vg1219787869 NA 2.95E-08 mr1992_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