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Detailed information for vg0824221287:

Variant ID: vg0824221287 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 24221287
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACAGCTGATGAAATGCAAGGGTCACCCTGCTTACGACGTCAATCCACTTCCTTCCCATGAGGCCATGACATCAACCGGGGCAATCCATTACTTCCTCCGT[C/T]
TCAGAATATAATTATTTTTAAAATTAAATATAGTTATTAAAAAAATAGGTAGAATTAAATAATGTATGGTTGTGATTAGATGATAAGTGAAGATAGGTAA

Reverse complement sequence

TTACCTATCTTCACTTATCATCTAATCACAACCATACATTATTTAATTCTACCTATTTTTTTAATAACTATATTTAATTTTAAAAATAATTATATTCTGA[G/A]
ACGGAGGAAGTAATGGATTGCCCCGGTTGATGTCATGGCCTCATGGGAAGGAAGTGGATTGACGTCGTAAGCAGGGTGACCCTTGCATTTCATCAGCTGT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.80% 18.10% 0.11% 0.00% NA
All Indica  2759 98.40% 1.60% 0.00% 0.00% NA
All Japonica  1512 57.40% 42.30% 0.33% 0.00% NA
Aus  269 73.20% 26.80% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 98.40% 1.60% 0.00% 0.00% NA
Indica Intermediate  786 96.70% 3.30% 0.00% 0.00% NA
Temperate Japonica  767 60.20% 39.50% 0.26% 0.00% NA
Tropical Japonica  504 60.70% 38.90% 0.40% 0.00% NA
Japonica Intermediate  241 41.50% 58.10% 0.41% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 80.00% 20.00% 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
vg0824221287 C -> T LOC_Os08g38210.1 upstream_gene_variant ; 1119.0bp to feature; MODIFIER silent_mutation Average:91.749; most accessible tissue: Minghui63 panicle, score: 97.934 N N N N
vg0824221287 C -> T LOC_Os08g38210.2 upstream_gene_variant ; 2015.0bp to feature; MODIFIER silent_mutation Average:91.749; most accessible tissue: Minghui63 panicle, score: 97.934 N N N N
vg0824221287 C -> T LOC_Os08g38210.4 upstream_gene_variant ; 4406.0bp to feature; MODIFIER silent_mutation Average:91.749; most accessible tissue: Minghui63 panicle, score: 97.934 N N N N
vg0824221287 C -> T LOC_Os08g38210.5 upstream_gene_variant ; 4786.0bp to feature; MODIFIER silent_mutation Average:91.749; most accessible tissue: Minghui63 panicle, score: 97.934 N N N N
vg0824221287 C -> T LOC_Os08g38200-LOC_Os08g38210 intergenic_region ; MODIFIER silent_mutation Average:91.749; most accessible tissue: Minghui63 panicle, score: 97.934 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)
vg0824221287 C T -0.05 -0.05 -0.03 -0.04 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0824221287 8.69E-06 2.68E-17 Awn_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
vg0824221287 NA 5.10E-09 mr1057_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
vg0824221287 NA 2.25E-14 mr1720_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
vg0824221287 NA 1.77E-08 mr1915_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