Search for Variation information by Variation ID:

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

Detailed information for vg0103131279:

Variant ID: vg0103131279 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 3131279
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATCCATGCCGGAGGAACCGTGGACCAGCACCCCGGTACCAGGGATGCAAGTGGACCGATCCACAAACCTACTTATATGTTAAATAAAGGGTAATCCGAG[A/G]
ATTTTCACGTCATGACTCGGCTTGCCGCGTCGTAGAGATGCAAGTGGATCAACCCATAAACCCATTTATAGATCAAATTAATAGGTAACCCGCAGATTAC

Reverse complement sequence

GTAATCTGCGGGTTACCTATTAATTTGATCTATAAATGGGTTTATGGGTTGATCCACTTGCATCTCTACGACGCGGCAAGCCGAGTCATGACGTGAAAAT[T/C]
CTCGGATTACCCTTTATTTAACATATAAGTAGGTTTGTGGATCGGTCCACTTGCATCCCTGGTACCGGGGTGCTGGTCCACGGTTCCTCCGGCATGGATT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 70.30% 29.40% 0.13% 0.17% NA
All Indica  2759 94.10% 5.80% 0.07% 0.11% NA
All Japonica  1512 23.10% 76.70% 0.07% 0.13% NA
Aus  269 89.60% 10.00% 0.37% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 96.60% 3.00% 0.00% 0.43% NA
Indica III  913 89.30% 10.50% 0.11% 0.11% NA
Indica Intermediate  786 94.70% 5.20% 0.13% 0.00% NA
Temperate Japonica  767 30.50% 69.50% 0.00% 0.00% NA
Tropical Japonica  504 15.70% 84.10% 0.00% 0.20% NA
Japonica Intermediate  241 15.40% 83.80% 0.41% 0.41% NA
VI/Aromatic  96 77.10% 22.90% 0.00% 0.00% NA
Intermediate  90 71.10% 23.30% 2.22% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0103131279 A -> G LOC_Os01g06650.1 upstream_gene_variant ; 2938.0bp to feature; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> G LOC_Os01g06640.1 downstream_gene_variant ; 557.0bp to feature; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> G LOC_Os01g06660.1 downstream_gene_variant ; 4825.0bp to feature; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> G LOC_Os01g06640.3 downstream_gene_variant ; 557.0bp to feature; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> G LOC_Os01g06640.2 downstream_gene_variant ; 557.0bp to feature; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> G LOC_Os01g06640-LOC_Os01g06650 intergenic_region ; MODIFIER silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 N N N N
vg0103131279 A -> DEL N N silent_mutation Average:86.967; most accessible tissue: Minghui63 root, score: 96.446 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)
vg0103131279 A G -0.02 -0.01 -0.01 -0.02 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0103131279 NA 4.88E-06 mr1179 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
vg0103131279 NA 1.43E-13 mr1205 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
vg0103131279 NA 9.19E-09 mr1302 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
vg0103131279 NA 2.18E-06 mr1315 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
vg0103131279 NA 8.40E-07 mr1338 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
vg0103131279 NA 2.66E-06 mr1352 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
vg0103131279 NA 3.30E-06 mr1358 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
vg0103131279 NA 9.85E-07 mr1392 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
vg0103131279 NA 1.87E-08 mr1506 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
vg0103131279 2.63E-06 2.63E-06 mr1520 Jap_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
vg0103131279 NA 1.27E-10 mr1623 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
vg0103131279 NA 1.11E-19 mr1627 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
vg0103131279 NA 1.25E-07 mr1779 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
vg0103131279 NA 1.27E-07 mr1810 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
vg0103131279 NA 1.95E-10 mr1904 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