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Detailed information for vg0912185687:

Variant ID: vg0912185687 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 12185687
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.92, T: 0.07, others allele: 0.00, population size: 236. )

Flanking Sequence (100 bp) in Reference Genome:


GGCAGTGCTCTGAAGCATAACTTCAGGCAATCAAAGAGGGGTGCTTGCTGGCTCTAATGGACCCTCTTCCCGATTGTAATAGAGACCGACTGTATGGTGG[T/C]
ACTGCATTTGATCCAGTCGAAGGAGAAGAATTTGTCGGAACTGGCTTTTCTAGTCAAGGAGATGAGTGACCTCTTGACTGGTAACAGGGAATTCTTGCTC

Reverse complement sequence

GAGCAAGAATTCCCTGTTACCAGTCAAGAGGTCACTCATCTCCTTGACTAGAAAAGCCAGTTCCGACAAATTCTTCTCCTTCGACTGGATCAAATGCAGT[A/G]
CCACCATACAGTCGGTCTCTATTACAATCGGGAAGAGGGTCCATTAGAGCCAGCAAGCACCCCTCTTTGATTGCCTGAAGTTATGCTTCAGAGCACTGCC

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 51.90% 47.40% 0.61% 0.00% NA
All Indica  2759 26.60% 72.50% 0.87% 0.00% NA
All Japonica  1512 99.00% 0.90% 0.13% 0.00% NA
Aus  269 31.20% 68.80% 0.00% 0.00% NA
Indica I  595 7.20% 91.90% 0.84% 0.00% NA
Indica II  465 53.80% 45.40% 0.86% 0.00% NA
Indica III  913 24.90% 74.60% 0.55% 0.00% NA
Indica Intermediate  786 27.20% 71.50% 1.27% 0.00% NA
Temperate Japonica  767 99.20% 0.70% 0.13% 0.00% NA
Tropical Japonica  504 99.40% 0.40% 0.20% 0.00% NA
Japonica Intermediate  241 97.50% 2.50% 0.00% 0.00% NA
VI/Aromatic  96 77.10% 22.90% 0.00% 0.00% NA
Intermediate  90 73.30% 23.30% 3.33% 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
vg0912185687 T -> C LOC_Os09g20310.1 upstream_gene_variant ; 4014.0bp to feature; MODIFIER silent_mutation Average:69.035; most accessible tissue: Zhenshan97 root, score: 86.362 N N N N
vg0912185687 T -> C LOC_Os09g20300-LOC_Os09g20310 intergenic_region ; MODIFIER silent_mutation Average:69.035; most accessible tissue: Zhenshan97 root, score: 86.362 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)
vg0912185687 T C -0.1 -0.04 -0.03 -0.05 -0.07 -0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0912185687 NA 2.23E-10 mr1425 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
vg0912185687 1.30E-06 4.79E-11 mr1425 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
vg0912185687 NA 4.31E-08 mr1660 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
vg0912185687 NA 3.37E-12 mr1667 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
vg0912185687 NA 1.09E-08 mr1986 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
vg0912185687 NA 8.93E-06 mr1497_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
vg0912185687 NA 1.27E-08 mr1660_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
vg0912185687 NA 3.65E-14 mr1717_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
vg0912185687 NA 1.12E-07 mr1895_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
vg0912185687 NA 3.29E-07 mr1895_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
vg0912185687 NA 4.78E-10 mr1946_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
vg0912185687 NA 4.78E-10 mr1948_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