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Detailed information for vg0226252166:

Variant ID: vg0226252166 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 26252166
Reference Allele: GAlternative Allele: T
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, T: 0.02, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


AATATCCGATACTAGTGGATTTCTGATGCCGCGCGGTGCGCTGCACAGGGACACGTACGCGCCTACCACCGGCAGGCGGCGCGCCACTAGGGTCTGTTTG[G/T]
ATGCATGTCTGTTTCACTTTGCTACCATTTTCAACCTTATATTTTTTAAAATATTAAAAAAAATAGCTACATTTAGTTTGTTGCTAAATTTTAGTAAGTA

Reverse complement sequence

TACTTACTAAAATTTAGCAACAAACTAAATGTAGCTATTTTTTTTAATATTTTAAAAAATATAAGGTTGAAAATGGTAGCAAAGTGAAACAGACATGCAT[C/A]
CAAACAGACCCTAGTGGCGCGCCGCCTGCCGGTGGTAGGCGCGTACGTGTCCCTGTGCAGCGCACCGCGCGGCATCAGAAATCCACTAGTATCGGATATT

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.10% 35.80% 0.44% 17.60% NA
All Indica  2759 73.90% 2.50% 0.65% 22.94% NA
All Japonica  1512 2.30% 97.50% 0.07% 0.13% NA
Aus  269 29.70% 2.60% 0.74% 66.91% NA
Indica I  595 91.30% 0.70% 0.34% 7.73% NA
Indica II  465 74.00% 1.30% 0.43% 24.30% NA
Indica III  913 62.30% 1.20% 1.42% 35.05% NA
Indica Intermediate  786 74.20% 6.10% 0.13% 19.59% NA
Temperate Japonica  767 0.50% 99.30% 0.13% 0.00% NA
Tropical Japonica  504 5.60% 94.00% 0.00% 0.40% NA
Japonica Intermediate  241 1.20% 98.80% 0.00% 0.00% NA
VI/Aromatic  96 0.00% 95.80% 0.00% 4.17% NA
Intermediate  90 27.80% 57.80% 0.00% 14.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0226252166 G -> T LOC_Os02g43500.1 upstream_gene_variant ; 158.0bp to feature; MODIFIER silent_mutation Average:96.397; most accessible tissue: Minghui63 flag leaf, score: 98.151 N N N N
vg0226252166 G -> T LOC_Os02g43490.1 downstream_gene_variant ; 4001.0bp to feature; MODIFIER silent_mutation Average:96.397; most accessible tissue: Minghui63 flag leaf, score: 98.151 N N N N
vg0226252166 G -> T LOC_Os02g43510.1 downstream_gene_variant ; 852.0bp to feature; MODIFIER silent_mutation Average:96.397; most accessible tissue: Minghui63 flag leaf, score: 98.151 N N N N
vg0226252166 G -> T LOC_Os02g43500-LOC_Os02g43510 intergenic_region ; MODIFIER silent_mutation Average:96.397; most accessible tissue: Minghui63 flag leaf, score: 98.151 N N N N
vg0226252166 G -> DEL N N silent_mutation Average:96.397; most accessible tissue: Minghui63 flag leaf, score: 98.151 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)
vg0226252166 G T -0.02 -0.04 -0.04 -0.04 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0226252166 NA 4.49E-06 mr1071 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
vg0226252166 NA 4.99E-06 mr1619 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
vg0226252166 NA 2.77E-13 mr1655 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
vg0226252166 NA 2.42E-06 mr1795 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
vg0226252166 NA 7.58E-07 mr1962 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