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Detailed information for vg1223141422:

Variant ID: vg1223141422 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23141422
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.67, A: 0.32, others allele: 0.00, population size: 103. )

Flanking Sequence (100 bp) in Reference Genome:


TATATAATGTATGTGTTTGATTTAGATTGTGGAGGACATGGTGGATTACTCTTATTTTACGACAATTATTTATAGGTACAAAAAATAAATTAAATACTAA[C/A]
AAAAGTAAAAAATAGATCTTAAAAAGTATTCCAAGAAATTTCTATATAGATTTTTTTTAAAAAAAAAGTGTGTACCATTTAGCAGCTTAAGAAGCATGCT

Reverse complement sequence

AGCATGCTTCTTAAGCTGCTAAATGGTACACACTTTTTTTTTAAAAAAAATCTATATAGAAATTTCTTGGAATACTTTTTAAGATCTATTTTTTACTTTT[G/T]
TTAGTATTTAATTTATTTTTTGTACCTATAAATAATTGTCGTAAAATAAGAGTAATCCACCATGTCCTCCACAATCTAAATCAAACACATACATTATATA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.90% 12.10% 5.37% 2.56% NA
All Indica  2759 73.00% 14.00% 8.70% 4.28% NA
All Japonica  1512 99.20% 0.30% 0.40% 0.07% NA
Aus  269 38.30% 60.20% 1.49% 0.00% NA
Indica I  595 67.40% 11.90% 7.56% 13.11% NA
Indica II  465 58.70% 23.90% 16.77% 0.65% NA
Indica III  913 83.00% 9.30% 5.04% 2.63% NA
Indica Intermediate  786 74.00% 15.30% 9.03% 1.65% NA
Temperate Japonica  767 98.60% 0.70% 0.78% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 89.60% 10.40% 0.00% 0.00% NA
Intermediate  90 82.20% 11.10% 4.44% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223141422 C -> DEL N N silent_mutation Average:42.959; most accessible tissue: Zhenshan97 flower, score: 92.89 N N N N
vg1223141422 C -> A LOC_Os12g37690.1 upstream_gene_variant ; 4070.0bp to feature; MODIFIER silent_mutation Average:42.959; most accessible tissue: Zhenshan97 flower, score: 92.89 N N N N
vg1223141422 C -> A LOC_Os12g37690-LOC_Os12g37710 intergenic_region ; MODIFIER silent_mutation Average:42.959; most accessible tissue: Zhenshan97 flower, score: 92.89 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)
vg1223141422 C A 0.0 0.01 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
vg1223141422 NA 2.17E-08 mr1006 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
vg1223141422 NA 1.97E-07 mr1007 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
vg1223141422 NA 4.28E-08 mr1008 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
vg1223141422 NA 2.36E-08 mr1009 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
vg1223141422 NA 8.24E-08 mr1014 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
vg1223141422 NA 1.22E-06 mr1015 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
vg1223141422 NA 2.16E-08 mr1052 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
vg1223141422 NA 7.01E-09 mr1769 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
vg1223141422 NA 9.45E-08 mr1986 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
vg1223141422 NA 1.99E-06 mr1310_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
vg1223141422 NA 6.05E-06 mr1336_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
vg1223141422 NA 4.47E-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
vg1223141422 NA 2.01E-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