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Detailed information for vg0719727299:

Variant ID: vg0719727299 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 19727299
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGGGAGATCTAATCCGACCGGAGTATGTCGTCCAATAAGATCGGAACCATCATTGTCAAATTTTCGATCCGGCGAGATCGATCAATCTTCATCAAGACGT[A/G]
GCCACCATGGAGGACGGCAAATCGGTATTGCCGCCCGCGCGACTTCGGCCCAGATCGAACACGGTGCCGATTCCCACCAACCAAAATCGCTCAACGCAGG

Reverse complement sequence

CCTGCGTTGAGCGATTTTGGTTGGTGGGAATCGGCACCGTGTTCGATCTGGGCCGAAGTCGCGCGGGCGGCAATACCGATTTGCCGTCCTCCATGGTGGC[T/C]
ACGTCTTGATGAAGATTGATCGATCTCGCCGGATCGAAAATTTGACAATGATGGTTCCGATCTTATTGGACGACATACTCCGGTCGGATTAGATCTCCCC

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 83.10% 14.70% 0.40% 1.76% NA
All Indica  2759 97.60% 2.10% 0.22% 0.04% NA
All Japonica  1512 56.70% 41.20% 0.46% 1.65% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 97.80% 1.70% 0.43% 0.00% NA
Indica III  913 98.20% 1.80% 0.00% 0.00% NA
Indica Intermediate  786 96.10% 3.30% 0.51% 0.13% NA
Temperate Japonica  767 43.70% 55.30% 0.39% 0.65% NA
Tropical Japonica  504 88.10% 10.50% 0.20% 1.19% NA
Japonica Intermediate  241 32.40% 60.60% 1.24% 5.81% NA
VI/Aromatic  96 34.40% 2.10% 5.21% 58.33% NA
Intermediate  90 82.20% 15.60% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0719727299 A -> DEL N N silent_mutation Average:56.996; most accessible tissue: Zhenshan97 flower, score: 90.278 N N N N
vg0719727299 A -> G LOC_Os07g33010.1 upstream_gene_variant ; 3685.0bp to feature; MODIFIER silent_mutation Average:56.996; most accessible tissue: Zhenshan97 flower, score: 90.278 N N N N
vg0719727299 A -> G LOC_Os07g33020.1 upstream_gene_variant ; 7.0bp to feature; MODIFIER silent_mutation Average:56.996; most accessible tissue: Zhenshan97 flower, score: 90.278 N N N N
vg0719727299 A -> G LOC_Os07g33030.1 upstream_gene_variant ; 4546.0bp to feature; MODIFIER silent_mutation Average:56.996; most accessible tissue: Zhenshan97 flower, score: 90.278 N N N N
vg0719727299 A -> G LOC_Os07g33010-LOC_Os07g33020 intergenic_region ; MODIFIER silent_mutation Average:56.996; most accessible tissue: Zhenshan97 flower, score: 90.278 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)
vg0719727299 A G 0.0 -0.02 0.0 0.06 0.06 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0719727299 3.20E-07 NA Plant_height All YES 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
vg0719727299 1.09E-09 NA Spikelet_length 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
vg0719727299 1.04E-07 NA Spikelet_length Jap_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
vg0719727299 NA 3.94E-07 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
vg0719727299 NA 3.63E-09 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