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Detailed information for vg0205554214:

Variant ID: vg0205554214 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5554214
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.84, A: 0.15, T: 0.01, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


ATCGTGCCACATTTTTAAACTGCTAAACAATATGTTTTGTGCGAAAACTTTCTATATGAAAGTTGTTCTAAAATATCAGATGAATTTATTTTTCAAATTT[G/A]
TAATAATTAAAACTCAATTAATTCCACGTTATTATCACCTCATTTTACGTGAAACACTTAATCTTTATATTCATCTTCAGGAGATTCAAACACCACCTAA

Reverse complement sequence

TTAGGTGGTGTTTGAATCTCCTGAAGATGAATATAAAGATTAAGTGTTTCACGTAAAATGAGGTGATAATAACGTGGAATTAATTGAGTTTTAATTATTA[C/T]
AAATTTGAAAAATAAATTCATCTGATATTTTAGAACAACTTTCATATAGAAAGTTTTCGCACAAAACATATTGTTTAGCAGTTTAAAAATGTGGCACGAT

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 52.80% 47.10% 0.11% 0.00% NA
All Indica  2759 21.30% 78.60% 0.07% 0.00% NA
All Japonica  1512 98.90% 1.10% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 8.60% 91.30% 0.17% 0.00% NA
Indica II  465 33.50% 66.50% 0.00% 0.00% NA
Indica III  913 21.40% 78.60% 0.00% 0.00% NA
Indica Intermediate  786 23.70% 76.20% 0.13% 0.00% NA
Temperate Japonica  767 98.70% 1.30% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 2.10% 0.00% 0.00% NA
VI/Aromatic  96 90.60% 8.30% 1.04% 0.00% NA
Intermediate  90 63.30% 34.40% 2.22% 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
vg0205554214 G -> A LOC_Os02g10540.1 upstream_gene_variant ; 2098.0bp to feature; MODIFIER silent_mutation Average:86.139; most accessible tissue: Minghui63 root, score: 96.674 N N N N
vg0205554214 G -> A LOC_Os02g10550.1 upstream_gene_variant ; 472.0bp to feature; MODIFIER silent_mutation Average:86.139; most accessible tissue: Minghui63 root, score: 96.674 N N N N
vg0205554214 G -> A LOC_Os02g10530.1 downstream_gene_variant ; 4678.0bp to feature; MODIFIER silent_mutation Average:86.139; most accessible tissue: Minghui63 root, score: 96.674 N N N N
vg0205554214 G -> A LOC_Os02g10540-LOC_Os02g10550 intergenic_region ; MODIFIER silent_mutation Average:86.139; most accessible tissue: Minghui63 root, score: 96.674 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)
vg0205554214 G A 0.05 0.02 0.01 0.02 0.02 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0205554214 NA 1.63E-17 mr1032 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
vg0205554214 NA 4.27E-06 mr1032 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
vg0205554214 NA 1.10E-18 mr1165 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
vg0205554214 NA 4.01E-09 mr1170 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
vg0205554214 NA 8.14E-18 mr1478 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
vg0205554214 NA 3.06E-06 mr1478 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
vg0205554214 NA 7.13E-14 mr1744 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
vg0205554214 NA 1.45E-20 mr1165_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
vg0205554214 NA 1.04E-08 mr1478_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
vg0205554214 NA 3.48E-11 mr1781_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