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Detailed information for vg0408234717:

Variant ID: vg0408234717 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 8234717
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, others allele: 0.00, population size: 259. )

Flanking Sequence (100 bp) in Reference Genome:


AACTCCCTTCAAACAGGGAGCTCATGTTAGCCTAGTGGTGAGGATCACATTCTTGCTCCTCGCCAGCCAGAGTTCAAACCCCCAAAGTAGCACTTTTTCT[C/T]
ATTTTTAGGCAATAAAACGAACATGGGCCGCCGGAAGTGAAGTGGGCCTTGGAAGGCCGGCCCATCTCCTAGCTGACCTGCCGGTTTAGTATAGCCTGGT

Reverse complement sequence

ACCAGGCTATACTAAACCGGCAGGTCAGCTAGGAGATGGGCCGGCCTTCCAAGGCCCACTTCACTTCCGGCGGCCCATGTTCGTTTTATTGCCTAAAAAT[G/A]
AGAAAAAGTGCTACTTTGGGGGTTTGAACTCTGGCTGGCGAGGAGCAAGAATGTGATCCTCACCACTAGGCTAACATGAGCTCCCTGTTTGAAGGGAGTT

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 82.00% 9.10% 3.51% 5.40% NA
All Indica  2759 72.70% 15.30% 5.69% 6.31% NA
All Japonica  1512 95.10% 0.20% 0.26% 4.43% NA
Aus  269 97.80% 0.00% 0.37% 1.86% NA
Indica I  595 38.30% 42.90% 10.42% 8.40% NA
Indica II  465 88.40% 3.70% 3.87% 4.09% NA
Indica III  913 84.00% 5.90% 3.83% 6.24% NA
Indica Intermediate  786 76.50% 12.10% 5.34% 6.11% NA
Temperate Japonica  767 98.70% 0.00% 0.00% 1.30% NA
Tropical Japonica  504 90.50% 0.40% 0.60% 8.53% NA
Japonica Intermediate  241 93.40% 0.40% 0.41% 5.81% NA
VI/Aromatic  96 96.90% 0.00% 0.00% 3.12% NA
Intermediate  90 84.40% 4.40% 4.44% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0408234717 C -> DEL N N silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14654.1 upstream_gene_variant ; 1433.0bp to feature; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14654.2 upstream_gene_variant ; 1433.0bp to feature; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14654.3 upstream_gene_variant ; 1433.0bp to feature; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14670.1 downstream_gene_variant ; 2402.0bp to feature; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14680.1 downstream_gene_variant ; 4520.0bp to feature; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 N N N N
vg0408234717 C -> T LOC_Os04g14654-LOC_Os04g14670 intergenic_region ; MODIFIER silent_mutation Average:89.439; most accessible tissue: Minghui63 panicle, score: 99.629 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)
vg0408234717 C T -0.03 -0.05 -0.04 -0.02 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0408234717 NA 1.30E-06 mr1308 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
vg0408234717 NA 7.61E-06 mr1136_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
vg0408234717 NA 9.73E-06 mr1164_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
vg0408234717 NA 2.72E-07 mr1170_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
vg0408234717 6.33E-06 NA mr1308_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
vg0408234717 3.49E-06 1.05E-08 mr1308_2 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
vg0408234717 NA 3.03E-08 mr1361_2 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
vg0408234717 NA 6.81E-07 mr1583_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
vg0408234717 NA 3.85E-06 mr1745_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