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Detailed information for vg0141149267:

Variant ID: vg0141149267 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 41149267
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGATTAAGAACTCTTCATCTTCTTTACCGGACCGTGTTGTCCACCACTCTTCCAAGTTAGTCATTCTTTCCAACCAAATAACTCTTAATTTCTTACAGTT[T/C]
CCTTCCTCTCCATAGAATTCCTTGCCAATTCTCCTAATGCTGGGCATGTTATTCATCCTGAAATGTCTTAGGTTTGGCAACTGGCCAAATGCAGGAAGAG

Reverse complement sequence

CTCTTCCTGCATTTGGCCAGTTGCCAAACCTAAGACATTTCAGGATGAATAACATGCCCAGCATTAGGAGAATTGGCAAGGAATTCTATGGAGAGGAAGG[A/G]
AACTGTAAGAAATTAAGAGTTATTTGGTTGGAAAGAATGACTAACTTGGAAGAGTGGTGGACAACACGGTCCGGTAAAGAAGATGAAGAGTTCTTAATCC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.80% 6.20% 0.78% 8.23% NA
All Indica  2759 79.70% 9.70% 1.05% 9.46% NA
All Japonica  1512 98.60% 1.40% 0.00% 0.00% NA
Aus  269 50.90% 0.00% 2.60% 46.47% NA
Indica I  595 69.90% 23.50% 0.17% 6.39% NA
Indica II  465 94.20% 4.10% 0.22% 1.51% NA
Indica III  913 80.20% 1.80% 1.75% 16.32% NA
Indica Intermediate  786 78.10% 12.00% 1.40% 8.52% NA
Temperate Japonica  767 99.20% 0.80% 0.00% 0.00% NA
Tropical Japonica  504 98.20% 1.80% 0.00% 0.00% NA
Japonica Intermediate  241 97.50% 2.50% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 93.30% 2.20% 1.11% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0141149267 T -> DEL N N silent_mutation Average:70.933; most accessible tissue: Callus, score: 96.019 N N N N
vg0141149267 T -> C LOC_Os01g71094.1 upstream_gene_variant ; 2537.0bp to feature; MODIFIER silent_mutation Average:70.933; most accessible tissue: Callus, score: 96.019 N N N N
vg0141149267 T -> C LOC_Os01g71100.1 downstream_gene_variant ; 688.0bp to feature; MODIFIER silent_mutation Average:70.933; most accessible tissue: Callus, score: 96.019 N N N N
vg0141149267 T -> C LOC_Os01g71094-LOC_Os01g71100 intergenic_region ; MODIFIER silent_mutation Average:70.933; most accessible tissue: Callus, score: 96.019 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)
vg0141149267 T C -0.01 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0141149267 NA 4.58E-06 Spikelet_length Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0141149267 NA 3.08E-07 mr1389 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
vg0141149267 NA 8.62E-07 mr1389 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
vg0141149267 NA 7.00E-09 mr1038_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
vg0141149267 NA 4.45E-09 mr1038_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
vg0141149267 NA 3.54E-06 mr1154_2 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
vg0141149267 NA 1.70E-06 mr1389_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
vg0141149267 NA 6.47E-07 mr1389_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