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Detailed information for vg0221590970:

Variant ID: vg0221590970 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 21590970
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.97, C: 0.02, others allele: 0.00, population size: 107. )

Flanking Sequence (100 bp) in Reference Genome:


CCGTCCCAGCGAAGTACGACGGGGATACTTTCTTCCCATGCCTGTCCCCGCATTGGGAATTAATCCCTGTGGGGTCTTCGTCCCTGCTTAAAACAATATA[T/C]
ACACATCAAATTATATATGCAATACAACACATATATTCATGTTTTATATTAATATATCAATATATATCCATTAATTCACATAATTAAACATAATATTATC

Reverse complement sequence

GATAATATTATGTTTAATTATGTGAATTAATGGATATATATTGATATATTAATATAAAACATGAATATATGTGTTGTATTGCATATATAATTTGATGTGT[A/G]
TATATTGTTTTAAGCAGGGACGAAGACCCCACAGGGATTAATTCCCAATGCGGGGACAGGCATGGGAAGAAAGTATCCCCGTCGTACTTCGCTGGGACGG

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 84.10% 14.30% 1.54% 0.00% NA
All Indica  2759 73.50% 23.90% 2.61% 0.00% NA
All Japonica  1512 99.30% 0.70% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 46.70% 45.50% 7.73% 0.00% NA
Indica II  465 78.10% 21.10% 0.86% 0.00% NA
Indica III  913 88.60% 11.10% 0.33% 0.00% NA
Indica Intermediate  786 73.50% 24.00% 2.42% 0.00% NA
Temperate Japonica  767 99.20% 0.80% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 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 88.90% 10.00% 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
vg0221590970 T -> C LOC_Os02g35940.1 downstream_gene_variant ; 1896.0bp to feature; MODIFIER silent_mutation Average:74.459; most accessible tissue: Callus, score: 92.119 N N N N
vg0221590970 T -> C LOC_Os02g35940-LOC_Os02g35950 intergenic_region ; MODIFIER silent_mutation Average:74.459; most accessible tissue: Callus, score: 92.119 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)
vg0221590970 T C 0.01 0.0 0.0 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0221590970 2.35E-06 NA mr1918 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
vg0221590970 NA 5.90E-07 mr1074_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
vg0221590970 NA 1.70E-06 mr1148_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
vg0221590970 NA 1.12E-08 mr1222_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
vg0221590970 4.29E-06 NA mr1918_2 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