Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0818543721:

Variant ID: vg0818543721 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 18543721
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTCGTGAGCACACGGTAGGGCTCGCAGGAACGACTGAACGAGGCTTGGAACGGCGCTGGTGGCTAAGAGCAACTTTGGACTAATAAATTTATAAAAGTTT[C/T]
AAATTGGACCACCCTTCTTCTCCATCAATCTTTCCTCCTCTTCTCTATTAAGCAGCTGCGCCATGGATCTGACTGAGGGATGATCAAACAAAGCACCAGG

Reverse complement sequence

CCTGGTGCTTTGTTTGATCATCCCTCAGTCAGATCCATGGCGCAGCTGCTTAATAGAGAAGAGGAGGAAAGATTGATGGAGAAGAAGGGTGGTCCAATTT[G/A]
AAACTTTTATAAATTTATTAGTCCAAAGTTGCTCTTAGCCACCAGCGCCGTTCCAAGCCTCGTTCAGTCGTTCCTGCGAGCCCTACCGTGTGCTCACGAC

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 74.10% 3.70% 1.97% 20.25% NA
All Indica  2759 63.20% 0.70% 2.10% 33.96% NA
All Japonica  1512 87.60% 9.70% 1.98% 0.73% NA
Aus  269 98.50% 0.70% 0.37% 0.37% NA
Indica I  595 62.40% 1.20% 0.67% 35.80% NA
Indica II  465 93.10% 0.40% 1.29% 5.16% NA
Indica III  913 44.80% 0.20% 2.41% 52.57% NA
Indica Intermediate  786 67.70% 1.00% 3.31% 27.99% NA
Temperate Japonica  767 99.20% 0.80% 0.00% 0.00% NA
Tropical Japonica  504 67.90% 25.20% 4.96% 1.98% NA
Japonica Intermediate  241 91.70% 5.80% 2.07% 0.41% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 82.20% 4.40% 4.44% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0818543721 C -> T LOC_Os08g30140.1 upstream_gene_variant ; 3536.0bp to feature; MODIFIER silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 N N N N
vg0818543721 C -> T LOC_Os08g30150.1 upstream_gene_variant ; 135.0bp to feature; MODIFIER silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 N N N N
vg0818543721 C -> T LOC_Os08g30160.1 upstream_gene_variant ; 2725.0bp to feature; MODIFIER silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 N N N N
vg0818543721 C -> T LOC_Os08g30170.1 downstream_gene_variant ; 3697.0bp to feature; MODIFIER silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 N N N N
vg0818543721 C -> T LOC_Os08g30150-LOC_Os08g30160 intergenic_region ; MODIFIER silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 N N N N
vg0818543721 C -> DEL N N silent_mutation Average:95.201; most accessible tissue: Zhenshan97 root, score: 99.108 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)
vg0818543721 C T -0.03 -0.02 -0.04 0.04 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0818543721 NA 4.82E-06 mr1039 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
vg0818543721 4.62E-07 NA mr1227 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
vg0818543721 NA 1.97E-07 mr1227 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
vg0818543721 4.43E-09 4.43E-09 mr1266 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
vg0818543721 2.07E-06 2.07E-06 mr1299 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
vg0818543721 9.60E-06 1.63E-07 mr1345 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
vg0818543721 NA 9.99E-06 mr1382 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
vg0818543721 NA 2.37E-06 mr1427 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
vg0818543721 NA 1.40E-06 mr1560 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
vg0818543721 NA 1.43E-06 mr1653 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
vg0818543721 NA 3.92E-07 mr1700 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
vg0818543721 8.69E-06 8.69E-06 mr1756 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
vg0818543721 2.25E-06 2.25E-06 mr1873 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
vg0818543721 NA 3.99E-07 mr1006_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
vg0818543721 NA 9.72E-08 mr1047_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
vg0818543721 NA 4.54E-06 mr1870_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