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Detailed information for vg0422094587:

Variant ID: vg0422094587 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 22094587
Reference Allele: CAlternative Allele: T,A
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.01, others allele: 0.00, population size: 259. )

Flanking Sequence (100 bp) in Reference Genome:


TTAGTCAAGTCTTATAGAGGTAGGGGTAGGGTGTGTGTTAATTGGTGGTAGGGTGTGCGTGTGTGTATTTATAGGGGTGAGTGTGCGTGCATTGTGAACA[C/T,A]
CTAAATTTGTAATGTGTCAGAAAAATAAATCATGTTATTATTGTTCATAACTGACAACATGCCAATTATACTCCAGTCGTAAATCAAAGGAGTTAACTGT

Reverse complement sequence

ACAGTTAACTCCTTTGATTTACGACTGGAGTATAATTGGCATGTTGTCAGTTATGAACAATAATAACATGATTTATTTTTCTGACACATTACAAATTTAG[G/A,T]
TGTTCACAATGCACGCACACTCACCCCTATAAATACACACACGCACACCCTACCACCAATTAACACACACCCTACCCCTACCTCTATAAGACTTGACTAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.70% 7.40% 2.90% 0.00% A: 0.02%
All Indica  2759 82.90% 12.20% 4.86% 0.00% A: 0.04%
All Japonica  1512 99.70% 0.10% 0.13% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 89.40% 2.40% 8.24% 0.00% NA
Indica II  465 37.80% 49.50% 12.69% 0.00% NA
Indica III  913 99.20% 0.70% 0.11% 0.00% NA
Indica Intermediate  786 85.80% 10.90% 3.18% 0.00% A: 0.13%
Temperate Japonica  767 99.70% 0.00% 0.26% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 87.80% 11.10% 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
vg0422094587 C -> A LOC_Os04g36620.1 downstream_gene_variant ; 1325.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> A LOC_Os04g36630.1 downstream_gene_variant ; 419.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> A LOC_Os04g36620.3 downstream_gene_variant ; 1325.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> A LOC_Os04g36620.2 downstream_gene_variant ; 1118.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> A LOC_Os04g36620-LOC_Os04g36630 intergenic_region ; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> T LOC_Os04g36620.1 downstream_gene_variant ; 1325.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> T LOC_Os04g36630.1 downstream_gene_variant ; 419.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> T LOC_Os04g36620.3 downstream_gene_variant ; 1325.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> T LOC_Os04g36620.2 downstream_gene_variant ; 1118.0bp to feature; MODIFIER silent_mutation Average:75.64; most accessible tissue: Minghui63 panicle, score: 79.811 N N N N
vg0422094587 C -> T LOC_Os04g36620-LOC_Os04g36630 intergenic_region ; MODIFIER silent_mutation Average:75.64; 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)
vg0422094587 C A 0.0 0.0 -0.01 -0.01 -0.01 -0.01
vg0422094587 C T -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
vg0422094587 NA 7.70E-07 mr1051 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
vg0422094587 NA 1.80E-06 mr1130 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
vg0422094587 4.06E-06 4.04E-06 mr1267 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
vg0422094587 NA 1.50E-07 mr1536 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
vg0422094587 NA 8.39E-06 mr1651 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
vg0422094587 NA 8.00E-07 mr1679 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
vg0422094587 NA 5.59E-06 mr1749 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
vg0422094587 NA 1.30E-10 mr1877 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
vg0422094587 NA 1.69E-06 mr1918 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
vg0422094587 NA 1.87E-10 mr1929 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
vg0422094587 NA 8.81E-06 mr1929 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
vg0422094587 NA 4.27E-08 mr1974 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
vg0422094587 NA 5.35E-07 mr1974 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
vg0422094587 NA 1.60E-06 mr1536_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
vg0422094587 NA 1.31E-06 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