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Detailed information for vg0226791306:

Variant ID: vg0226791306 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 26791306
Reference Allele: AAlternative Allele: T,AT
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.91, A: 0.10, others allele: 0.00, population size: 90. )

Flanking Sequence (100 bp) in Reference Genome:


GTACTCCCTCCGTAAAAAAAAAAGATAAAAAAAAGATAAAACCTGGTTTCCGTATCTAACGTTTTACCGTCCATCTTATTTAAAAAAAATATAAAAAAAA[A/T,AT]
TAAAAAGACAAGTCACGCATAAAATATTAATCATATTTTATGATCTAACAACAATGAAAATACGAATTATAAAAAAATTTCATATAAGACGGACAGTCAA

Reverse complement sequence

TTGACTGTCCGTCTTATATGAAATTTTTTTATAATTCGTATTTTCATTGTTGTTAGATCATAAAATATGATTAATATTTTATGCGTGACTTGTCTTTTTA[T/A,AT]
TTTTTTTTATATTTTTTTTAAATAAGATGGACGGTAAAACGTTAGATACGGAAACCAGGTTTTATCTTTTTTTTATCTTTTTTTTTTACGGAGGGAGTAC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 71.20% 26.40% 1.48% 0.85% AT: 0.04%
All Indica  2759 90.40% 6.70% 1.74% 1.12% AT: 0.04%
All Japonica  1512 31.60% 67.70% 0.66% 0.00% AT: 0.07%
Aus  269 91.40% 1.10% 4.46% 2.97% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 88.20% 1.30% 6.24% 4.30% NA
Indica III  913 83.10% 15.90% 0.44% 0.44% AT: 0.11%
Indica Intermediate  786 93.00% 4.20% 1.91% 0.89% NA
Temperate Japonica  767 32.30% 66.60% 1.04% 0.00% NA
Tropical Japonica  504 26.60% 72.80% 0.40% 0.00% AT: 0.20%
Japonica Intermediate  241 39.80% 60.20% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 62.20% 36.70% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0226791306 A -> T LOC_Os02g44280.1 upstream_gene_variant ; 431.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> T LOC_Os02g44270.1 downstream_gene_variant ; 3288.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> T LOC_Os02g44270.2 downstream_gene_variant ; 4029.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> T LOC_Os02g44280-LOC_Os02g44290 intergenic_region ; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> AT LOC_Os02g44280.1 upstream_gene_variant ; 432.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> AT LOC_Os02g44270.1 downstream_gene_variant ; 3289.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> AT LOC_Os02g44270.2 downstream_gene_variant ; 4030.0bp to feature; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> AT LOC_Os02g44280-LOC_Os02g44290 intergenic_region ; MODIFIER silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 N N N N
vg0226791306 A -> DEL N N silent_mutation Average:76.717; most accessible tissue: Callus, score: 98.552 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)
vg0226791306 A AT -0.17 -0.03 -0.03 0.1 0.04 -0.03
vg0226791306 A T 0.02 0.02 0.01 0.02 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0226791306 NA 6.14E-08 mr1227_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
vg0226791306 NA 2.68E-06 mr1355_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
vg0226791306 NA 2.69E-10 mr1479_2 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
vg0226791306 NA 6.85E-06 mr1479_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
vg0226791306 NA 6.63E-06 mr1574_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
vg0226791306 NA 6.25E-08 mr1662_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
vg0226791306 NA 1.11E-08 mr1709_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
vg0226791306 NA 6.84E-16 mr1726_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
vg0226791306 NA 2.88E-09 mr1765_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
vg0226791306 NA 6.84E-06 mr1786_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
vg0226791306 NA 4.35E-07 mr1895_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