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Detailed information for vg0428520912:

Variant ID: vg0428520912 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 28520912
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.84, T: 0.14, others allele: 0.00, population size: 76. )

Flanking Sequence (100 bp) in Reference Genome:


TATAAAAAAATTAAAAAAAAGTCGCATAAAGTACTGTTCATGTTTTATCATCTAATCATAAAAATACTAATCATAATAAATTTTAAATAATATAAATGGT[C/T]
AAACATTGAACATGAAAATCTACACTTAAAATGAGACGGAGGGAGTATTTTGGTAGGGAGGGAGTAATTGTTAAGGAAGATTCGGATTCTTCCTTCTACC

Reverse complement sequence

GGTAGAAGGAAGAATCCGAATCTTCCTTAACAATTACTCCCTCCCTACCAAAATACTCCCTCCGTCTCATTTTAAGTGTAGATTTTCATGTTCAATGTTT[G/A]
ACCATTTATATTATTTAAAATTTATTATGATTAGTATTTTTATGATTAGATGATAAAACATGAACAGTACTTTATGCGACTTTTTTTTAATTTTTTTATA

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 59.30% 40.10% 0.59% 0.02% NA
All Indica  2759 94.70% 4.80% 0.47% 0.04% NA
All Japonica  1512 1.40% 97.80% 0.79% 0.00% NA
Aus  269 49.80% 50.20% 0.00% 0.00% NA
Indica I  595 97.10% 2.20% 0.67% 0.00% NA
Indica II  465 95.10% 4.50% 0.43% 0.00% NA
Indica III  913 94.40% 5.30% 0.33% 0.00% NA
Indica Intermediate  786 92.90% 6.50% 0.51% 0.13% NA
Temperate Japonica  767 0.50% 99.00% 0.52% 0.00% NA
Tropical Japonica  504 3.00% 96.20% 0.79% 0.00% NA
Japonica Intermediate  241 0.80% 97.50% 1.66% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 35.60% 61.10% 3.33% 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
vg0428520912 C -> DEL N N silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 N N N N
vg0428520912 C -> T LOC_Os04g47970.1 upstream_gene_variant ; 978.0bp to feature; MODIFIER silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 N N N N
vg0428520912 C -> T LOC_Os04g47970.2 upstream_gene_variant ; 978.0bp to feature; MODIFIER silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 N N N N
vg0428520912 C -> T LOC_Os04g47950.1 downstream_gene_variant ; 4777.0bp to feature; MODIFIER silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 N N N N
vg0428520912 C -> T LOC_Os04g47960.1 downstream_gene_variant ; 1127.0bp to feature; MODIFIER silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 N N N N
vg0428520912 C -> T LOC_Os04g47960-LOC_Os04g47970 intergenic_region ; MODIFIER silent_mutation Average:73.54; most accessible tissue: Zhenshan97 flower, score: 88.465 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)
vg0428520912 C T 0.01 0.0 -0.01 0.0 -0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0428520912 NA 9.64E-27 mr1076 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
vg0428520912 NA 2.63E-39 mr1139 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
vg0428520912 NA 1.63E-27 mr1145 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
vg0428520912 NA 1.04E-30 mr1204 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
vg0428520912 NA 1.02E-23 mr1264 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
vg0428520912 NA 1.15E-12 mr1362 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
vg0428520912 NA 6.36E-30 mr1436 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
vg0428520912 NA 3.62E-40 mr1437 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
vg0428520912 NA 1.10E-47 mr1070_2 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
vg0428520912 NA 8.84E-33 mr1083_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
vg0428520912 NA 1.94E-43 mr1145_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
vg0428520912 NA 3.10E-37 mr1224_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
vg0428520912 NA 5.63E-38 mr1226_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
vg0428520912 NA 4.11E-46 mr1437_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
vg0428520912 NA 2.31E-35 mr1878_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
vg0428520912 NA 7.95E-09 mr1947_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