Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0231991021:

Variant ID: vg0231991021 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 31991021
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, T: 0.02, others allele: 0.00, population size: 263. )

Flanking Sequence (100 bp) in Reference Genome:


AAAAGTGATTGAAAAAAAATGTGGTTGTTACTTGTAACATTGAGATGATATACTAGGATATATCAGTGATCAGTCAGTCTGGGCCTGAGAAAACATGAAC[T/C]
GTTATGCAGAAACTTCGTGGAAGCATCCGCCGCTAGCGTTAAGTCAAGGGTCACTTCGTTGTGTAGTGTTTGCCAACTGTTAATCTATCTTCATTAGTAT

Reverse complement sequence

ATACTAATGAAGATAGATTAACAGTTGGCAAACACTACACAACGAAGTGACCCTTGACTTAACGCTAGCGGCGGATGCTTCCACGAAGTTTCTGCATAAC[A/G]
GTTCATGTTTTCTCAGGCCCAGACTGACTGATCACTGATATATCCTAGTATATCATCTCAATGTTACAAGTAACAACCACATTTTTTTTCAATCACTTTT

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 61.50% 37.90% 0.53% 0.00% NA
All Indica  2759 94.20% 5.00% 0.80% 0.00% NA
All Japonica  1512 0.40% 99.50% 0.13% 0.00% NA
Aus  269 97.00% 3.00% 0.00% 0.00% NA
Indica I  595 92.30% 5.50% 2.18% 0.00% NA
Indica II  465 97.80% 1.70% 0.43% 0.00% NA
Indica III  913 91.90% 8.00% 0.11% 0.00% NA
Indica Intermediate  786 96.30% 2.90% 0.76% 0.00% NA
Temperate Japonica  767 0.50% 99.30% 0.13% 0.00% NA
Tropical Japonica  504 0.00% 100.00% 0.00% 0.00% NA
Japonica Intermediate  241 0.80% 98.80% 0.41% 0.00% NA
VI/Aromatic  96 8.30% 91.70% 0.00% 0.00% NA
Intermediate  90 36.70% 62.20% 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
vg0231991021 T -> C LOC_Os02g52240.1 upstream_gene_variant ; 2721.0bp to feature; MODIFIER silent_mutation Average:90.755; most accessible tissue: Minghui63 flower, score: 97.544 N N N N
vg0231991021 T -> C LOC_Os02g52230.1 downstream_gene_variant ; 1598.0bp to feature; MODIFIER silent_mutation Average:90.755; most accessible tissue: Minghui63 flower, score: 97.544 N N N N
vg0231991021 T -> C LOC_Os02g52250.1 downstream_gene_variant ; 4197.0bp to feature; MODIFIER silent_mutation Average:90.755; most accessible tissue: Minghui63 flower, score: 97.544 N N N N
vg0231991021 T -> C LOC_Os02g52230-LOC_Os02g52240 intergenic_region ; MODIFIER silent_mutation Average:90.755; most accessible tissue: Minghui63 flower, score: 97.544 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)
vg0231991021 T C 0.07 0.13 0.08 0.0 0.05 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0231991021 NA 1.21E-35 mr1350 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
vg0231991021 NA 9.06E-13 mr1386 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
vg0231991021 NA 7.36E-27 mr1414 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
vg0231991021 NA 6.20E-20 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
vg0231991021 NA 1.39E-12 mr1636 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
vg0231991021 NA 1.20E-12 mr1641 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
vg0231991021 NA 9.55E-11 mr1683 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
vg0231991021 NA 7.23E-19 mr1767 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
vg0231991021 NA 3.70E-23 mr1839 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
vg0231991021 NA 7.49E-14 mr1909 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
vg0231991021 NA 1.09E-10 mr1921 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
vg0231991021 NA 1.11E-08 mr1322_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
vg0231991021 NA 7.77E-18 mr1336_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
vg0231991021 NA 2.38E-21 mr1627_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
vg0231991021 NA 2.21E-08 mr1627_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
vg0231991021 NA 1.78E-07 mr1783_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