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Detailed information for vg0520574217:

Variant ID: vg0520574217 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 20574217
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.87, T: 0.12, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


TATAGTAAACATTTGCTAATGATGGATTAATTAGGCTTAATAAATTCGTCTCGCGGTTTACCGACGGATTCTGTAATTAGTTTTTTTATTAGTGCCCGAA[T/C]
ACCCTATGCGACACCCTATATAACACCCGATGTGACACGCCAAAACTTTACACCCTTGGATTTAAACACCCCCGTAGAGTGATTGCTTTTAAATCGCTAG

Reverse complement sequence

CTAGCGATTTAAAAGCAATCACTCTACGGGGGTGTTTAAATCCAAGGGTGTAAAGTTTTGGCGTGTCACATCGGGTGTTATATAGGGTGTCGCATAGGGT[A/G]
TTCGGGCACTAATAAAAAAACTAATTACAGAATCCGTCGGTAAACCGCGAGACGAATTTATTAAGCCTAATTAATCCATCATTAGCAAATGTTTACTATA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.00% 18.70% 0.25% 0.00% NA
All Indica  2759 76.50% 23.30% 0.18% 0.00% NA
All Japonica  1512 86.60% 13.00% 0.46% 0.00% NA
Aus  269 90.00% 10.00% 0.00% 0.00% NA
Indica I  595 68.20% 31.60% 0.17% 0.00% NA
Indica II  465 82.40% 17.60% 0.00% 0.00% NA
Indica III  913 72.70% 27.10% 0.22% 0.00% NA
Indica Intermediate  786 83.60% 16.20% 0.25% 0.00% NA
Temperate Japonica  767 76.90% 22.20% 0.91% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 89.60% 10.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 80.00% 20.00% 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
vg0520574217 T -> C LOC_Os05g34670.1 upstream_gene_variant ; 550.0bp to feature; MODIFIER silent_mutation Average:68.704; most accessible tissue: Minghui63 flag leaf, score: 84.42 N N N N
vg0520574217 T -> C LOC_Os05g34670-LOC_Os05g34680 intergenic_region ; MODIFIER silent_mutation Average:68.704; most accessible tissue: Minghui63 flag leaf, score: 84.42 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)
vg0520574217 T C -0.02 -0.01 -0.01 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0520574217 1.03E-06 1.03E-06 mr1402 Jap_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