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Detailed information for vg0111350503:

Variant ID: vg0111350503 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 11350503
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTCGCCCCGTGCAGCGCAGCCGAGCCGAGAGTCGAGAGACCCACCCCCACCGTCGCCGCAGTTTAATTGGCAGCTCACACACGCACGAGCCGTCACTCCG[C/G]
GCTGCACGCTGCATATATCCGAGAGCCCAAGCGCGCGTCAGGGCAGGCAGGCTCCACCATTTCTCCCAGCTCGACCCGCGCACACCGCCGCCCGGGGAGG

Reverse complement sequence

CCTCCCCGGGCGGCGGTGTGCGCGGGTCGAGCTGGGAGAAATGGTGGAGCCTGCCTGCCCTGACGCGCGCTTGGGCTCTCGGATATATGCAGCGTGCAGC[G/C]
CGGAGTGACGGCTCGTGCGTGTGTGAGCTGCCAATTAAACTGCGGCGACGGTGGGGGTGGGTCTCTCGACTCTCGGCTCGGCTGCGCTGCACGGGGCGAC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.00% 2.90% 0.74% 0.42% NA
All Indica  2759 99.00% 0.40% 0.47% 0.14% NA
All Japonica  1512 91.10% 7.90% 0.99% 0.00% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 98.70% 0.30% 1.01% 0.00% NA
Indica II  465 98.10% 0.60% 0.86% 0.43% NA
Indica III  913 99.80% 0.00% 0.00% 0.22% NA
Indica Intermediate  786 99.00% 0.60% 0.38% 0.00% NA
Temperate Japonica  767 97.90% 1.80% 0.26% 0.00% NA
Tropical Japonica  504 81.30% 16.90% 1.79% 0.00% NA
Japonica Intermediate  241 89.60% 8.70% 1.66% 0.00% NA
VI/Aromatic  96 78.10% 0.00% 7.29% 14.58% NA
Intermediate  90 92.20% 6.70% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0111350503 C -> G LOC_Os01g19970.1 upstream_gene_variant ; 4.0bp to feature; MODIFIER silent_mutation Average:98.152; most accessible tissue: Minghui63 young leaf, score: 99.628 N N N N
vg0111350503 C -> G LOC_Os01g19960-LOC_Os01g19970 intergenic_region ; MODIFIER silent_mutation Average:98.152; most accessible tissue: Minghui63 young leaf, score: 99.628 N N N N
vg0111350503 C -> DEL N N silent_mutation Average:98.152; most accessible tissue: Minghui63 young leaf, score: 99.628 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)
vg0111350503 C G 0.0 -0.01 0.0 0.06 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0111350503 1.68E-06 1.68E-06 mr1168 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
vg0111350503 NA 3.51E-06 mr1179 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
vg0111350503 NA 5.54E-07 mr1277 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
vg0111350503 NA 6.81E-09 mr1746 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