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Detailed information for vg0825016494:

Variant ID: vg0825016494 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 25016494
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, T: 0.01, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


CGGTGAACACGTCGGGGATGGCGCCCTCGACGGCGTTCCGGCTCAGGTTCAGGATGCCCAGCCCCTTGTTCTGCAGCAGGCTCGCCGGGATCCGGCCGGA[G/T]
ACCCGGTTGCCGCCGAGGTACAGGGAGGTGAGCACGTGGGCGCCGCCCAGGCTGTCCGGGATCCCGCCGGTGAGGCCGTTCTCGGCGAGGTCGAGGTCGG

Reverse complement sequence

CCGACCTCGACCTCGCCGAGAACGGCCTCACCGGCGGGATCCCGGACAGCCTGGGCGGCGCCCACGTGCTCACCTCCCTGTACCTCGGCGGCAACCGGGT[C/A]
TCCGGCCGGATCCCGGCGAGCCTGCTGCAGAACAAGGGGCTGGGCATCCTGAACCTGAGCCGGAACGCCGTCGAGGGCGCCATCCCCGACGTGTTCACCG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.50% 10.20% 0.04% 0.28% NA
All Indica  2759 82.30% 17.20% 0.07% 0.43% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 68.10% 31.10% 0.00% 0.84% NA
Indica II  465 91.80% 7.70% 0.22% 0.22% NA
Indica III  913 83.90% 15.90% 0.00% 0.22% NA
Indica Intermediate  786 85.60% 13.70% 0.13% 0.51% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 7.80% 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
vg0825016494 G -> T LOC_Os08g39550.1 synonymous_variant ; p.Val275Val; LOW synonymous_codon Average:89.477; most accessible tissue: Minghui63 panicle, score: 95.701 N N N N
vg0825016494 G -> DEL LOC_Os08g39550.1 N frameshift_variant Average:89.477; most accessible tissue: Minghui63 panicle, score: 95.701 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)
vg0825016494 G T 0.02 0.02 0.03 0.01 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0825016494 1.99E-15 1.97E-22 mr1874 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
vg0825016494 2.32E-15 1.81E-20 mr1874 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
vg0825016494 NA 7.40E-10 mr1709_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
vg0825016494 1.78E-17 1.51E-23 mr1874_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
vg0825016494 9.56E-17 3.78E-21 mr1874_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