Search for Variation information by Variation ID:

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

Detailed information for vg0223858890:

Variant ID: vg0223858890 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 23858890
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, A: 0.01, others allele: 0.00, population size: 227. )

Flanking Sequence (100 bp) in Reference Genome:


AAAACAACCACGAAAAAAGACCACGTGCCTTATCTTTTCGCATATGGTTATACTTATTAGCCAAAAATTGAATTTCAACCTTAAATTTTGAATTGATTTT[G/A]
GGGTTTTTCATCGAAGTTTATTTTTCAGTATTTGCTTTTATATTGTTAACAATACGTATATAAAAGTTATATTCATAAATTAGTTTTTATTTGCAAATAT

Reverse complement sequence

ATATTTGCAAATAAAAACTAATTTATGAATATAACTTTTATATACGTATTGTTAACAATATAAAAGCAAATACTGAAAAATAAACTTCGATGAAAAACCC[C/T]
AAAATCAATTCAAAATTTAAGGTTGAAATTCAATTTTTGGCTAATAAGTATAACCATATGCGAAAAGATAAGGCACGTGGTCTTTTTTCGTGGTTGTTTT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.50% 24.70% 0.83% 0.00% NA
All Indica  2759 63.90% 35.70% 0.47% 0.00% NA
All Japonica  1512 87.80% 10.40% 1.72% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 53.10% 45.70% 1.18% 0.00% NA
Indica II  465 53.50% 46.20% 0.22% 0.00% NA
Indica III  913 74.50% 25.50% 0.00% 0.00% NA
Indica Intermediate  786 65.80% 33.60% 0.64% 0.00% NA
Temperate Japonica  767 96.50% 2.10% 1.43% 0.00% NA
Tropical Japonica  504 72.00% 25.60% 2.38% 0.00% NA
Japonica Intermediate  241 93.40% 5.40% 1.24% 0.00% NA
VI/Aromatic  96 89.60% 10.40% 0.00% 0.00% NA
Intermediate  90 84.40% 15.60% 0.00% 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
vg0223858890 G -> A LOC_Os02g39530.3 upstream_gene_variant ; 374.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39540.1 upstream_gene_variant ; 949.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39530.1 upstream_gene_variant ; 374.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39530.2 upstream_gene_variant ; 374.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39540.2 upstream_gene_variant ; 947.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39520.2 downstream_gene_variant ; 3649.0bp to feature; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 N N N N
vg0223858890 G -> A LOC_Os02g39530-LOC_Os02g39540 intergenic_region ; MODIFIER silent_mutation Average:93.1; most accessible tissue: Minghui63 flag leaf, score: 96.807 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)
vg0223858890 G A 0.0 0.01 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0223858890 NA 9.44E-07 mr1121_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
vg0223858890 NA 6.97E-06 mr1200_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
vg0223858890 NA 2.42E-07 mr1220_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
vg0223858890 NA 4.43E-08 mr1248_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
vg0223858890 NA 5.94E-06 mr1291_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
vg0223858890 NA 6.03E-06 mr1405_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
vg0223858890 NA 2.30E-06 mr1423_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
vg0223858890 NA 4.99E-06 mr1553_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
vg0223858890 4.08E-07 4.08E-07 mr1574_2 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
vg0223858890 NA 7.26E-06 mr1736_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
vg0223858890 5.21E-06 1.76E-08 mr1781_2 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
vg0223858890 3.40E-06 3.09E-08 mr1786_2 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
vg0223858890 NA 6.08E-08 mr1808_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
vg0223858890 NA 2.48E-06 mr1827_2 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
vg0223858890 NA 4.68E-06 mr1844_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
vg0223858890 NA 1.86E-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