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Detailed information for vg0225795212:

Variant ID: vg0225795212 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25795212
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCATATTTGTTTCAGCTTAAGATTATTGTAATCTAGATTATTAAATCAGATTACTCTAAGCTGTATTATAATAAGCTGACATAAAATAAGCTATGAGTT[G/A]
TTTGTTTCTCTGGATTATTAGAGGCATCTAAGAGTAGTGGATCTTTAGCCACTCAATAATCTGAAAAAAGCTAGCTTCTCTAGAGGAGATTATTGGATTA

Reverse complement sequence

TAATCCAATAATCTCCTCTAGAGAAGCTAGCTTTTTTCAGATTATTGAGTGGCTAAAGATCCACTACTCTTAGATGCCTCTAATAATCCAGAGAAACAAA[C/T]
AACTCATAGCTTATTTTATGTCAGCTTATTATAATACAGCTTAGAGTAATCTGATTTAATAATCTAGATTACAATAATCTTAAGCTGAAACAAATATGGC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.20% 3.70% 0.08% 0.00% NA
All Indica  2759 94.00% 5.90% 0.11% 0.00% NA
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 96.70% 3.30% 0.00% 0.00% NA
Indica I  595 89.40% 10.30% 0.34% 0.00% NA
Indica II  465 94.20% 5.80% 0.00% 0.00% NA
Indica III  913 97.30% 2.60% 0.11% 0.00% NA
Indica Intermediate  786 93.50% 6.50% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 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 95.60% 3.30% 1.11% 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
vg0225795212 G -> A LOC_Os02g42880.1 upstream_gene_variant ; 3999.0bp to feature; MODIFIER silent_mutation Average:49.187; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0225795212 G -> A LOC_Os02g42890.1 downstream_gene_variant ; 2083.0bp to feature; MODIFIER silent_mutation Average:49.187; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0225795212 G -> A LOC_Os02g42880-LOC_Os02g42890 intergenic_region ; MODIFIER silent_mutation Average:49.187; most accessible tissue: Minghui63 panicle, score: 79.811 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)
vg0225795212 G A -0.01 -0.02 -0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225795212 3.36E-06 3.36E-06 mr1300 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