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Detailed information for vg0914018847:

Variant ID: vg0914018847 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 14018847
Reference Allele: CAlternative Allele: T,A
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: 250. )

Flanking Sequence (100 bp) in Reference Genome:


GTGCAGCCCGTGCGCGTGCATGGTATAGCCTAACATGTAGGTCGGGGTGTGCCAGACTGACTGATCTCAGTCTGGGCCCGGTAGTGTCCGGGCTGGGCTG[C/T,A]
CCATTTGGTCATCTCATAGTTTGCAGCCTACTTGCACAGTGCAGATTTACTTTGCATTTGCCGCTTTGCGGATGCATGTTATGTGTACATGTGTGTGTTT

Reverse complement sequence

AAACACACACATGTACACATAACATGCATCCGCAAAGCGGCAAATGCAAAGTAAATCTGCACTGTGCAAGTAGGCTGCAAACTATGAGATGACCAAATGG[G/A,T]
CAGCCCAGCCCGGACACTACCGGGCCCAGACTGAGATCAGTCAGTCTGGCACACCCCGACCTACATGTTAGGCTATACCATGCACGCGCACGGGCTGCAC

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 97.40% 2.40% 0.15% 0.00% A: 0.02%
All Indica  2759 100.00% 0.00% 0.00% 0.00% NA
All Japonica  1512 92.30% 7.30% 0.40% 0.00% NA
Aus  269 99.60% 0.00% 0.00% 0.00% A: 0.37%
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.90% 0.10% 0.00% 0.00% NA
Temperate Japonica  767 99.00% 0.90% 0.13% 0.00% NA
Tropical Japonica  504 81.20% 17.90% 0.99% 0.00% NA
Japonica Intermediate  241 94.20% 5.80% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 96.70% 2.20% 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
vg0914018847 C -> T LOC_Os09g23580.1 upstream_gene_variant ; 4873.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> T LOC_Os09g23590.1 upstream_gene_variant ; 1417.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> T LOC_Os09g23595.1 downstream_gene_variant ; 1072.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> T LOC_Os09g23580-LOC_Os09g23595 intergenic_region ; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> A LOC_Os09g23580.1 upstream_gene_variant ; 4873.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> A LOC_Os09g23590.1 upstream_gene_variant ; 1417.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> A LOC_Os09g23595.1 downstream_gene_variant ; 1072.0bp to feature; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 N N N N
vg0914018847 C -> A LOC_Os09g23580-LOC_Os09g23595 intergenic_region ; MODIFIER silent_mutation Average:99.155; most accessible tissue: Minghui63 flower, score: 99.661 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)
vg0914018847 C A -0.07 -0.08 -0.07 -0.05 -0.05 -0.08
vg0914018847 C T 0.0 0.0 0.0 0.01 0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0914018847 NA 6.80E-07 mr1040 Jap_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
vg0914018847 NA 1.77E-09 mr1236 Jap_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
vg0914018847 NA 1.94E-08 mr1248 Jap_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
vg0914018847 NA 3.22E-06 mr1636 Jap_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
vg0914018847 NA 3.60E-10 mr1951 Jap_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
vg0914018847 NA 2.90E-07 mr1498_2 Jap_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
vg0914018847 NA 3.95E-08 mr1676_2 Jap_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