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Detailed information for vg0620179417:

Variant ID: vg0620179417 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 20179417
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.71, A: 0.29, others allele: 0.00, population size: 94. )

Flanking Sequence (100 bp) in Reference Genome:


CTAATATTCTAGGACGGAGGGAATATAAACTTAATACTGAATATATCATCTAGCAATACAAATTTAAGCAGCCACCTATTTAGATTGGGCCAAGATCAGC[A/G]
GATCCACAATTCTACTAGAGGGGAAGGCTTATCTCCGACTTCCTCCTCAAGACCCCACTTCTCTTTATTCTCTCCCTCTTCTTCCTCCTTCCCTGTCCCC

Reverse complement sequence

GGGGACAGGGAAGGAGGAAGAAGAGGGAGAGAATAAAGAGAAGTGGGGTCTTGAGGAGGAAGTCGGAGATAAGCCTTCCCCTCTAGTAGAATTGTGGATC[T/C]
GCTGATCTTGGCCCAATCTAAATAGGTGGCTGCTTAAATTTGTATTGCTAGATGATATATTCAGTATTAAGTTTATATTCCCTCCGTCCTAGAATATTAG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.80% 27.10% 0.13% 0.00% NA
All Indica  2759 83.10% 16.70% 0.18% 0.00% NA
All Japonica  1512 70.80% 29.20% 0.00% 0.00% NA
Aus  269 1.50% 98.50% 0.00% 0.00% NA
Indica I  595 86.60% 13.40% 0.00% 0.00% NA
Indica II  465 83.70% 16.10% 0.22% 0.00% NA
Indica III  913 78.30% 21.60% 0.11% 0.00% NA
Indica Intermediate  786 85.90% 13.70% 0.38% 0.00% NA
Temperate Japonica  767 81.70% 18.30% 0.00% 0.00% NA
Tropical Japonica  504 72.20% 27.80% 0.00% 0.00% NA
Japonica Intermediate  241 33.20% 66.80% 0.00% 0.00% NA
VI/Aromatic  96 13.50% 86.50% 0.00% 0.00% NA
Intermediate  90 63.30% 35.60% 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
vg0620179417 A -> G LOC_Os06g34730.1 upstream_gene_variant ; 374.0bp to feature; MODIFIER silent_mutation Average:88.926; most accessible tissue: Zhenshan97 flower, score: 95.79 N N N N
vg0620179417 A -> G LOC_Os06g34710.1 downstream_gene_variant ; 2156.0bp to feature; MODIFIER silent_mutation Average:88.926; most accessible tissue: Zhenshan97 flower, score: 95.79 N N N N
vg0620179417 A -> G LOC_Os06g34730-LOC_Os06g34750 intergenic_region ; MODIFIER silent_mutation Average:88.926; most accessible tissue: Zhenshan97 flower, score: 95.79 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)
vg0620179417 A G -0.02 0.0 -0.01 -0.01 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0620179417 NA 6.51E-09 mr1570 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
vg0620179417 9.55E-07 9.53E-07 mr1597 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
vg0620179417 NA 2.40E-06 mr1121_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
vg0620179417 NA 5.25E-07 mr1211_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
vg0620179417 NA 4.97E-07 mr1929_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