Search for Variation information by Variation ID:

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

Detailed information for vg0427788963:

Variant ID: vg0427788963 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 27788963
Reference Allele: AAlternative Allele: C,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, T: 0.01, others allele: 0.00, population size: 86. )

Flanking Sequence (100 bp) in Reference Genome:


ACTATTAATAACTGGTCTCACCTGTCATAAACACATTACGTTTTGGAGTCCATGCTGCAGCCGGCTACAGATATGTAGTCCGCTGCTCTTCTCTTTCTTT[A/C,T]
TTTATCTTTTTAAAATATGTTTATAGTTAGCTTATAGCTTGGAGTTAGTAATTGGCTACACTATTAAACTTGCTCTTATACGCCAGCTTCGCACTGCAAT

Reverse complement sequence

ATTGCAGTGCGAAGCTGGCGTATAAGAGCAAGTTTAATAGTGTAGCCAATTACTAACTCCAAGCTATAAGCTAACTATAAACATATTTTAAAAAGATAAA[T/G,A]
AAAGAAAGAGAAGAGCAGCGGACTACATATCTGTAGCCGGCTGCAGCATGGACTCCAAAACGTAATGTGTTTATGACAGGTGAGACCAGTTATTAATAGT

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 63.40% 35.80% 0.36% 0.47% T: 0.02%
All Indica  2759 90.30% 8.70% 0.29% 0.72% NA
All Japonica  1512 12.00% 87.50% 0.53% 0.00% NA
Aus  269 79.60% 19.30% 0.00% 0.74% T: 0.37%
Indica I  595 93.90% 6.10% 0.00% 0.00% NA
Indica II  465 92.50% 4.10% 1.08% 2.37% NA
Indica III  913 88.40% 11.30% 0.11% 0.22% NA
Indica Intermediate  786 88.30% 10.60% 0.25% 0.89% NA
Temperate Japonica  767 15.90% 83.10% 1.04% 0.00% NA
Tropical Japonica  504 7.90% 92.10% 0.00% 0.00% NA
Japonica Intermediate  241 7.90% 92.10% 0.00% 0.00% NA
VI/Aromatic  96 75.00% 25.00% 0.00% 0.00% NA
Intermediate  90 42.20% 56.70% 1.11% 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
vg0427788963 A -> C LOC_Os04g46880.1 upstream_gene_variant ; 1792.0bp to feature; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> C LOC_Os04g46880.2 upstream_gene_variant ; 1825.0bp to feature; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> C LOC_Os04g46880-LOC_Os04g46892 intergenic_region ; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> DEL N N silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> T LOC_Os04g46880.1 upstream_gene_variant ; 1792.0bp to feature; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> T LOC_Os04g46880.2 upstream_gene_variant ; 1825.0bp to feature; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 N N N N
vg0427788963 A -> T LOC_Os04g46880-LOC_Os04g46892 intergenic_region ; MODIFIER silent_mutation Average:97.028; most accessible tissue: Minghui63 flower, score: 98.95 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)
vg0427788963 A C -0.01 -0.02 -0.02 -0.02 -0.02 -0.03
vg0427788963 A T -0.02 -0.01 0.0 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0427788963 3.78E-06 3.78E-06 mr1049_2 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
vg0427788963 NA 6.78E-07 mr1137_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
vg0427788963 NA 4.20E-08 mr1181_2 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
vg0427788963 NA 8.85E-08 mr1295_2 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
vg0427788963 NA 4.69E-06 mr1332_2 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
vg0427788963 NA 9.85E-08 mr1522_2 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
vg0427788963 NA 5.52E-06 mr1524_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
vg0427788963 NA 6.54E-06 mr1617_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
vg0427788963 NA 1.31E-12 mr1666_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
vg0427788963 NA 1.08E-07 mr1683_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
vg0427788963 NA 8.85E-06 mr1687_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
vg0427788963 NA 3.61E-10 mr1761_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
vg0427788963 NA 4.51E-13 mr1838_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
vg0427788963 1.26E-06 1.26E-06 mr1981_2 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