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Detailed information for vg0222316237:

Variant ID: vg0222316237 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 22316237
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTCACACATATCATACACACGTAGCGTTTTAGAATCCGTGCTGCAGCTGGCTACAAATATATAGTCCGCTTATCTTCTCTCTTTTCTTATCTTCCGTAC[C/T]
GCAGCTGGCTATAAATATATAGCCGACATTATGTTAGGGCCTCATCGGATGGATGTATGGGCTGAGGCTTTTCAGCCAAAGCCTATCGAATTGCTTATTG

Reverse complement sequence

CAATAAGCAATTCGATAGGCTTTGGCTGAAAAGCCTCAGCCCATACATCCATCCGATGAGGCCCTAACATAATGTCGGCTATATATTTATAGCCAGCTGC[G/A]
GTACGGAAGATAAGAAAAGAGAGAAGATAAGCGGACTATATATTTGTAGCCAGCTGCAGCACGGATTCTAAAACGCTACGTGTGTATGATATGTGTGACC

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 65.20% 34.40% 0.19% 0.21% NA
All Indica  2759 90.40% 9.40% 0.04% 0.18% NA
All Japonica  1512 15.80% 83.60% 0.33% 0.26% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 85.00% 14.60% 0.00% 0.34% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 90.40% 9.40% 0.11% 0.11% NA
Indica Intermediate  786 89.20% 10.60% 0.00% 0.25% NA
Temperate Japonica  767 20.30% 78.90% 0.52% 0.26% NA
Tropical Japonica  504 10.70% 88.90% 0.00% 0.40% NA
Japonica Intermediate  241 12.00% 87.60% 0.41% 0.00% NA
VI/Aromatic  96 35.40% 64.60% 0.00% 0.00% NA
Intermediate  90 51.10% 44.40% 3.33% 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
vg0222316237 C -> T LOC_Os02g36940.1 upstream_gene_variant ; 3075.0bp to feature; MODIFIER silent_mutation Average:90.653; most accessible tissue: Minghui63 young leaf, score: 95.808 N N N N
vg0222316237 C -> T LOC_Os02g36950.1 downstream_gene_variant ; 3618.0bp to feature; MODIFIER silent_mutation Average:90.653; most accessible tissue: Minghui63 young leaf, score: 95.808 N N N N
vg0222316237 C -> T LOC_Os02g36950.2 downstream_gene_variant ; 3618.0bp to feature; MODIFIER silent_mutation Average:90.653; most accessible tissue: Minghui63 young leaf, score: 95.808 N N N N
vg0222316237 C -> T LOC_Os02g36940-LOC_Os02g36950 intergenic_region ; MODIFIER silent_mutation Average:90.653; most accessible tissue: Minghui63 young leaf, score: 95.808 N N N N
vg0222316237 C -> DEL N N silent_mutation Average:90.653; most accessible tissue: Minghui63 young leaf, score: 95.808 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)
vg0222316237 C T 0.06 0.0 0.01 0.05 0.06 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0222316237 NA 3.98E-06 Awn_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
vg0222316237 1.04E-06 NA mr1067 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
vg0222316237 4.40E-06 NA mr1087_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
vg0222316237 NA 1.30E-09 mr1947_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