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Detailed information for vg0110450390:

Variant ID: vg0110450390 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 10450390
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.99, G: 0.00, others allele: 0.00, population size: 250. )

Flanking Sequence (100 bp) in Reference Genome:


GTTTATCTGGATGCCTGCCTACGCCCGCCGAGGCGTCCAGTCTCCAGTGTGTTCGTTGGTGCACTGCACGTCTCCAGCATGCCCAGTGGCGTGTACTAGT[A/G]
AGAAATACTAACCCAAATTTATTATAGGACACTTTTTGGTACTTTGGTACTTTGGCGAGTCCTCCTTTATTAGGCCATGTTTAGTTACAAAATTTTTCTT

Reverse complement sequence

AAGAAAAATTTTGTAACTAAACATGGCCTAATAAAGGAGGACTCGCCAAAGTACCAAAGTACCAAAAAGTGTCCTATAATAAATTTGGGTTAGTATTTCT[T/C]
ACTAGTACACGCCACTGGGCATGCTGGAGACGTGCAGTGCACCAACGAACACACTGGAGACTGGACGCCTCGGCGGGCGTAGGCAGGCATCCAGATAAAC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 93.20% 6.00% 0.28% 0.53% NA
All Indica  2759 95.10% 4.90% 0.00% 0.00% NA
All Japonica  1512 97.40% 0.10% 0.86% 1.65% NA
Aus  269 47.60% 52.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.10% 0.90% 0.00% 0.00% NA
Indica III  913 91.50% 8.50% 0.00% 0.00% NA
Indica Intermediate  786 93.30% 6.70% 0.00% 0.00% NA
Temperate Japonica  767 95.00% 0.00% 1.69% 3.26% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 95.60% 4.40% 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
vg0110450390 A -> G LOC_Os01g18550.1 downstream_gene_variant ; 1452.0bp to feature; MODIFIER silent_mutation Average:74.632; most accessible tissue: Callus, score: 93.121 N N N N
vg0110450390 A -> G LOC_Os01g18560.1 downstream_gene_variant ; 4840.0bp to feature; MODIFIER silent_mutation Average:74.632; most accessible tissue: Callus, score: 93.121 N N N N
vg0110450390 A -> G LOC_Os01g18530-LOC_Os01g18550 intergenic_region ; MODIFIER silent_mutation Average:74.632; most accessible tissue: Callus, score: 93.121 N N N N
vg0110450390 A -> DEL N N silent_mutation Average:74.632; most accessible tissue: Callus, score: 93.121 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)
vg0110450390 A G -0.07 0.01 0.01 0.02 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0110450390 NA 2.11E-21 mr1117 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
vg0110450390 NA 6.51E-25 mr1123 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
vg0110450390 NA 1.02E-17 mr1496 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
vg0110450390 3.03E-09 1.27E-19 mr1612 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
vg0110450390 NA 1.81E-07 mr1989 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
vg0110450390 NA 1.86E-17 mr1113_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
vg0110450390 NA 1.30E-17 mr1114_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
vg0110450390 NA 3.95E-20 mr1117_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
vg0110450390 NA 2.65E-19 mr1119_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
vg0110450390 NA 3.98E-21 mr1123_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
vg0110450390 NA 4.20E-16 mr1496_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
vg0110450390 NA 6.82E-08 mr1612_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