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Detailed information for vg0209114822:

Variant ID: vg0209114822 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 9114822
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATCACCAGGCACCATGACACCACACAGTAGCCGTGCAACGAATGTTCACCGCATAGCAAGCAAAGTCGTACTAGTACGTTGGTGCGTGCGCCCCTCCGC[C/T]
GTCCACCGAAAACCGCGTGGACGGCCGCTACTTAAGAGCAATTTTTTATAGTATAGCTAACTATTGACTATTAGCTCCTGTTGGAGACAATAACACAGTA

Reverse complement sequence

TACTGTGTTATTGTCTCCAACAGGAGCTAATAGTCAATAGTTAGCTATACTATAAAAAATTGCTCTTAAGTAGCGGCCGTCCACGCGGTTTTCGGTGGAC[G/A]
GCGGAGGGGCGCACGCACCAACGTACTAGTACGACTTTGCTTGCTATGCGGTGAACATTCGTTGCACGGCTACTGTGTGGTGTCATGGTGCCTGGTGATT

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 58.70% 41.10% 0.15% 0.00% NA
All Indica  2759 33.60% 66.10% 0.25% 0.00% NA
All Japonica  1512 97.60% 2.40% 0.00% 0.00% NA
Aus  269 80.70% 19.30% 0.00% 0.00% NA
Indica I  595 73.10% 26.60% 0.34% 0.00% NA
Indica II  465 10.10% 89.70% 0.22% 0.00% NA
Indica III  913 15.80% 84.00% 0.22% 0.00% NA
Indica Intermediate  786 38.40% 61.30% 0.25% 0.00% NA
Temperate Japonica  767 98.20% 1.80% 0.00% 0.00% NA
Tropical Japonica  504 96.00% 4.00% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 65.60% 34.40% 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
vg0209114822 C -> T LOC_Os02g16040.1 upstream_gene_variant ; 1192.0bp to feature; MODIFIER silent_mutation Average:81.956; most accessible tissue: Callus, score: 97.615 N N N N
vg0209114822 C -> T LOC_Os02g16040.2 upstream_gene_variant ; 1192.0bp to feature; MODIFIER silent_mutation Average:81.956; most accessible tissue: Callus, score: 97.615 N N N N
vg0209114822 C -> T LOC_Os02g16030.1 downstream_gene_variant ; 3111.0bp to feature; MODIFIER silent_mutation Average:81.956; most accessible tissue: Callus, score: 97.615 N N N N
vg0209114822 C -> T LOC_Os02g16030-LOC_Os02g16040 intergenic_region ; MODIFIER silent_mutation Average:81.956; most accessible tissue: Callus, score: 97.615 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)
vg0209114822 C T 0.07 0.1 0.07 0.08 0.12 0.12

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0209114822 NA 1.58E-06 mr1296_2 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
vg0209114822 NA 6.10E-07 mr1933_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
vg0209114822 NA 6.64E-07 mr1992_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