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Detailed information for vg0501597981:

Variant ID: vg0501597981 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 1597981
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 89. )

Flanking Sequence (100 bp) in Reference Genome:


GCCAACCACTCCGGATGGATAACCTCGCGGATAAAGTCAGCCTCCAGGAGCCGCGCCACTTCCTCTCGGATGAAGGCCTGCCGCTCCGGGGCTTGACACC[G/A]
CACTTTTTGCCGGACGGGTCGCGCATCCAGCCGCATGGCGAGGCGGTGCTCGATCACCTCCCTAGGGACCCCGGGCATGTCCGACGGCTTCCATTCGAAG

Reverse complement sequence

CTTCGAATGGAAGCCGTCGGACATGCCCGGGGTCCCTAGGGAGGTGATCGAGCACCGCCTCGCCATGCGGCTGGATGCGCGACCCGTCCGGCAAAAAGTG[C/T]
GGTGTCAAGCCCCGGAGCGGCAGGCCTTCATCCGAGAGGAAGTGGCGCGGCTCCTGGAGGCTGACTTTATCCGCGAGGTTATCCATCCGGAGTGGTTGGC

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 50.70% 47.10% 2.20% 0.00% NA
All Indica  2759 85.10% 11.20% 3.73% 0.00% NA
All Japonica  1512 1.10% 98.90% 0.00% 0.00% NA
Aus  269 1.50% 98.50% 0.00% 0.00% NA
Indica I  595 94.50% 4.00% 1.51% 0.00% NA
Indica II  465 82.20% 11.40% 6.45% 0.00% NA
Indica III  913 80.30% 16.10% 3.61% 0.00% NA
Indica Intermediate  786 85.40% 10.70% 3.94% 0.00% NA
Temperate Japonica  767 0.90% 99.10% 0.00% 0.00% NA
Tropical Japonica  504 1.00% 99.00% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 0.00% 100.00% 0.00% 0.00% NA
Intermediate  90 31.10% 67.80% 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
vg0501597981 G -> A LOC_Os05g03670.1 upstream_gene_variant ; 1888.0bp to feature; MODIFIER silent_mutation Average:47.526; most accessible tissue: Zhenshan97 flag leaf, score: 73.822 N N N N
vg0501597981 G -> A LOC_Os05g03680.1 downstream_gene_variant ; 142.0bp to feature; MODIFIER silent_mutation Average:47.526; most accessible tissue: Zhenshan97 flag leaf, score: 73.822 N N N N
vg0501597981 G -> A LOC_Os05g03670-LOC_Os05g03680 intergenic_region ; MODIFIER silent_mutation Average:47.526; most accessible tissue: Zhenshan97 flag leaf, score: 73.822 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)
vg0501597981 G A -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0501597981 NA 3.24E-06 mr1029 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
vg0501597981 NA 5.98E-10 mr1047 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
vg0501597981 NA 1.35E-15 mr1164 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
vg0501597981 9.67E-07 9.67E-07 mr1184 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
vg0501597981 NA 1.57E-07 mr1189 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
vg0501597981 NA 4.15E-08 mr1260 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
vg0501597981 NA 1.00E-15 mr1261 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
vg0501597981 NA 2.10E-06 mr1334 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
vg0501597981 NA 7.88E-07 mr1625 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
vg0501597981 NA 6.18E-07 mr1734 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
vg0501597981 NA 5.98E-12 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
vg0501597981 NA 8.16E-06 mr1750 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
vg0501597981 NA 9.47E-26 mr1051_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
vg0501597981 NA 5.13E-29 mr1932_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