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Detailed information for vg0103395450:

Variant ID: vg0103395450 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 3395450
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCAACAGCCGGGCCGTGCCGGCACGGGCCTGACAGCGATTGGGTTGTGCCGTGCTTAGGTCGGGCCAAAACCTCGTGCCTTGCGCCGGGCCGTCGGGCCT[C/T]
GGGCCTTATGGCCAACTATAGTCTCCCGTGACACCCCCCGGGGGCTCAACTCCCATTTTCTCGCGAATTCGCCCGCCGCCTGCGCCGATCTCCGGTGCTT

Reverse complement sequence

AAGCACCGGAGATCGGCGCAGGCGGCGGGCGAATTCGCGAGAAAATGGGAGTTGAGCCCCCGGGGGGTGTCACGGGAGACTATAGTTGGCCATAAGGCCC[G/A]
AGGCCCGACGGCCCGGCGCAAGGCACGAGGTTTTGGCCCGACCTAAGCACGGCACAACCCAATCGCTGTCAGGCCCGTGCCGGCACGGCCCGGCTGTTGG

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 60.20% 39.20% 0.57% 0.00% NA
All Indica  2759 78.50% 21.20% 0.36% 0.00% NA
All Japonica  1512 41.50% 58.50% 0.00% 0.00% NA
Aus  269 3.70% 91.40% 4.83% 0.00% NA
Indica I  595 96.50% 3.50% 0.00% 0.00% NA
Indica II  465 93.30% 6.70% 0.00% 0.00% NA
Indica III  913 59.40% 40.30% 0.33% 0.00% NA
Indica Intermediate  786 78.20% 20.90% 0.89% 0.00% NA
Temperate Japonica  767 23.20% 76.80% 0.00% 0.00% NA
Tropical Japonica  504 70.80% 29.20% 0.00% 0.00% NA
Japonica Intermediate  241 38.20% 61.80% 0.00% 0.00% NA
VI/Aromatic  96 0.00% 100.00% 0.00% 0.00% NA
Intermediate  90 48.90% 46.70% 4.44% 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
vg0103395450 C -> T LOC_Os01g07170.1 upstream_gene_variant ; 4694.0bp to feature; MODIFIER silent_mutation Average:91.554; most accessible tissue: Zhenshan97 flower, score: 94.524 N N N N
vg0103395450 C -> T LOC_Os01g07180.1 upstream_gene_variant ; 2439.0bp to feature; MODIFIER silent_mutation Average:91.554; most accessible tissue: Zhenshan97 flower, score: 94.524 N N N N
vg0103395450 C -> T LOC_Os01g07190.1 upstream_gene_variant ; 312.0bp to feature; MODIFIER silent_mutation Average:91.554; most accessible tissue: Zhenshan97 flower, score: 94.524 N N N N
vg0103395450 C -> T LOC_Os01g07200.1 upstream_gene_variant ; 1887.0bp to feature; MODIFIER silent_mutation Average:91.554; most accessible tissue: Zhenshan97 flower, score: 94.524 N N N N
vg0103395450 C -> T LOC_Os01g07180-LOC_Os01g07190 intergenic_region ; MODIFIER silent_mutation Average:91.554; most accessible tissue: Zhenshan97 flower, score: 94.524 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)
vg0103395450 C T -0.01 0.0 -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
vg0103395450 NA 2.09E-06 mr1336 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
vg0103395450 NA 3.10E-07 mr1364 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
vg0103395450 NA 3.73E-08 mr1443 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
vg0103395450 NA 8.51E-06 mr1102_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
vg0103395450 1.48E-06 1.48E-06 mr1217_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
vg0103395450 NA 7.28E-06 mr1223_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
vg0103395450 NA 7.05E-11 mr1228_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
vg0103395450 NA 1.42E-08 mr1364_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
vg0103395450 NA 8.63E-14 mr1583_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
vg0103395450 5.18E-06 NA mr1607_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
vg0103395450 6.65E-06 7.87E-07 mr1713_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
vg0103395450 NA 1.37E-06 mr1800_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
vg0103395450 7.85E-06 7.85E-06 mr1852_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