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Detailed information for vg0142085967:

Variant ID: vg0142085967 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 42085967
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAAAGTTAAAAGTTTGAAGAAAAAGTTTAGAACTAAACAAGGCCTCAATCAACTACTCCCTCTGTTCCATAATATAAGGGATTTTAACTTTTTATTTGCA[C/T]
TGTTTGACCATTCGTATTATTCAAAATTTTTTGAAATTATTATTTATTTTATTTATGACTTACTTTATTATCCAAATTACTTTAAGCATAATTTTCGTTT

Reverse complement sequence

AAACGAAAATTATGCTTAAAGTAATTTGGATAATAAAGTAAGTCATAAATAAAATAAATAATAATTTCAAAAAATTTTGAATAATACGAATGGTCAAACA[G/A]
TGCAAATAAAAAGTTAAAATCCCTTATATTATGGAACAGAGGGAGTAGTTGATTGAGGCCTTGTTTAGTTCTAAACTTTTTCTTCAAACTTTTAACTTTT

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 96.10% 3.90% 0.00% 0.00% NA
All Indica  2759 98.30% 1.70% 0.00% 0.00% NA
All Japonica  1512 99.80% 0.20% 0.00% 0.00% NA
Aus  269 58.70% 41.30% 0.00% 0.00% NA
Indica I  595 99.30% 0.70% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 97.80% 2.20% 0.00% 0.00% NA
Indica Intermediate  786 97.20% 2.80% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 80.20% 19.80% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg0142085967 C -> T LOC_Os01g72570.1 upstream_gene_variant ; 508.0bp to feature; MODIFIER silent_mutation Average:88.339; most accessible tissue: Minghui63 flower, score: 95.545 N N N N
vg0142085967 C -> T LOC_Os01g72570.2 upstream_gene_variant ; 508.0bp to feature; MODIFIER silent_mutation Average:88.339; most accessible tissue: Minghui63 flower, score: 95.545 N N N N
vg0142085967 C -> T LOC_Os01g72570.3 upstream_gene_variant ; 508.0bp to feature; MODIFIER silent_mutation Average:88.339; most accessible tissue: Minghui63 flower, score: 95.545 N N N N
vg0142085967 C -> T LOC_Os01g72560.1 downstream_gene_variant ; 925.0bp to feature; MODIFIER silent_mutation Average:88.339; most accessible tissue: Minghui63 flower, score: 95.545 N N N N
vg0142085967 C -> T LOC_Os01g72560-LOC_Os01g72570 intergenic_region ; MODIFIER silent_mutation Average:88.339; most accessible tissue: Minghui63 flower, score: 95.545 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)
vg0142085967 C T -0.02 -0.02 -0.02 -0.02 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0142085967 NA 4.91E-06 mr1230_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
vg0142085967 5.66E-09 NA mr1248_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
vg0142085967 4.17E-07 NA mr1251_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
vg0142085967 5.96E-06 2.01E-07 mr1406_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
vg0142085967 4.00E-07 NA mr1435_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