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Detailed information for vg1217611926:

Variant ID: vg1217611926 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 17611926
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.57, C: 0.43, others allele: 0.00, population size: 89. )

Flanking Sequence (100 bp) in Reference Genome:


TCTATAATTAGCCATAAGTATTACAGTAACCCACATGTGCTAATGACGGCTTAAAAGATTCGTCTCGCGGTTTCTAGGCGAATTATAAAATTAGTTTTTC[T/C]
ATTTGTGTCAAAAACACCTTGCGACATCGGTTAAACATCCGATGTGACGTTTAAAAATTTTCTTTTCGGAAACTAAACAGGCGCTTAGTGGTATCGTGTA

Reverse complement sequence

TACACGATACCACTAAGCGCCTGTTTAGTTTCCGAAAAGAAAATTTTTAAACGTCACATCGGATGTTTAACCGATGTCGCAAGGTGTTTTTGACACAAAT[A/G]
GAAAAACTAATTTTATAATTCGCCTAGAAACCGCGAGACGAATCTTTTAAGCCGTCATTAGCACATGTGGGTTACTGTAATACTTATGGCTAATTATAGA

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 68.10% 31.70% 0.19% 0.00% NA
All Indica  2759 63.80% 36.00% 0.18% 0.00% NA
All Japonica  1512 80.40% 19.60% 0.07% 0.00% NA
Aus  269 34.60% 65.10% 0.37% 0.00% NA
Indica I  595 63.20% 36.80% 0.00% 0.00% NA
Indica II  465 67.70% 31.80% 0.43% 0.00% NA
Indica III  913 68.30% 31.50% 0.11% 0.00% NA
Indica Intermediate  786 56.70% 43.00% 0.25% 0.00% NA
Temperate Japonica  767 97.80% 2.20% 0.00% 0.00% NA
Tropical Japonica  504 64.30% 35.50% 0.20% 0.00% NA
Japonica Intermediate  241 58.50% 41.50% 0.00% 0.00% NA
VI/Aromatic  96 92.70% 7.30% 0.00% 0.00% NA
Intermediate  90 66.70% 31.10% 2.22% 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
vg1217611926 T -> C LOC_Os12g29550.1 upstream_gene_variant ; 450.0bp to feature; MODIFIER silent_mutation Average:92.869; most accessible tissue: Callus, score: 97.441 N N N N
vg1217611926 T -> C LOC_Os12g29540.1 downstream_gene_variant ; 1910.0bp to feature; MODIFIER silent_mutation Average:92.869; most accessible tissue: Callus, score: 97.441 N N N N
vg1217611926 T -> C LOC_Os12g29540-LOC_Os12g29550 intergenic_region ; MODIFIER silent_mutation Average:92.869; most accessible tissue: Callus, score: 97.441 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)
vg1217611926 T C 0.0 0.0 0.0 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1217611926 4.59E-06 NA mr1275 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
vg1217611926 8.00E-06 NA mr1583 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
vg1217611926 NA 2.17E-06 mr1583 Jap_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
vg1217611926 NA 1.94E-06 mr1662_2 Jap_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