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Detailed information for vg1117176992:

Variant ID: vg1117176992 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 17176992
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.92, G: 0.09, others allele: 0.00, population size: 86. )

Flanking Sequence (100 bp) in Reference Genome:


CGGTGTCGCCGTTCTGCTGCCGCTAGACTGACACCAATGGCAAACTCCACTGAGGATTTGCCAACTGGGGAGGAGTAGGACGCCATGAATCCGATCCCAC[C/G]
TCTGGCCAATCAGGGTCGCCGACCATGTGCAGCAGGACATGGAAGATCCTCCGCTCGTCGCCGACGAGCTGAGGTGGTCCGGCGCGGCAGCGCGCGCTCA

Reverse complement sequence

TGAGCGCGCGCTGCCGCGCCGGACCACCTCAGCTCGTCGGCGACGAGCGGAGGATCTTCCATGTCCTGCTGCACATGGTCGGCGACCCTGATTGGCCAGA[G/C]
GTGGGATCGGATTCATGGCGTCCTACTCCTCCCCAGTTGGCAAATCCTCAGTGGAGTTTGCCATTGGTGTCAGTCTAGCGGCAGCAGAACGGCGACACCG

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 55.00% 26.60% 0.76% 17.65% NA
All Indica  2759 33.40% 42.10% 0.98% 23.49% NA
All Japonica  1512 98.10% 1.10% 0.00% 0.79% NA
Aus  269 16.00% 21.20% 2.60% 60.22% NA
Indica I  595 34.10% 64.70% 0.00% 1.18% NA
Indica II  465 19.40% 28.40% 1.51% 50.75% NA
Indica III  913 40.10% 36.70% 1.10% 22.12% NA
Indica Intermediate  786 33.50% 39.40% 1.27% 25.83% NA
Temperate Japonica  767 97.90% 1.30% 0.00% 0.78% NA
Tropical Japonica  504 98.20% 0.80% 0.00% 0.99% NA
Japonica Intermediate  241 98.30% 1.20% 0.00% 0.41% NA
VI/Aromatic  96 94.80% 2.10% 1.04% 2.08% NA
Intermediate  90 64.40% 23.30% 1.11% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1117176992 C -> DEL N N silent_mutation Average:82.2; most accessible tissue: Zhenshan97 young leaf, score: 89.339 N N N N
vg1117176992 C -> G LOC_Os11g29610.1 downstream_gene_variant ; 1802.0bp to feature; MODIFIER silent_mutation Average:82.2; most accessible tissue: Zhenshan97 young leaf, score: 89.339 N N N N
vg1117176992 C -> G LOC_Os11g29620.1 downstream_gene_variant ; 2358.0bp to feature; MODIFIER silent_mutation Average:82.2; most accessible tissue: Zhenshan97 young leaf, score: 89.339 N N N N
vg1117176992 C -> G LOC_Os11g29630.1 downstream_gene_variant ; 3537.0bp to feature; MODIFIER silent_mutation Average:82.2; most accessible tissue: Zhenshan97 young leaf, score: 89.339 N N N N
vg1117176992 C -> G LOC_Os11g29610-LOC_Os11g29620 intergenic_region ; MODIFIER silent_mutation Average:82.2; most accessible tissue: Zhenshan97 young leaf, score: 89.339 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)
vg1117176992 C G 0.0 0.0 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1117176992 NA 2.79E-07 mr1221 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
vg1117176992 NA 2.21E-08 mr1534 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
vg1117176992 NA 3.58E-06 mr1637 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
vg1117176992 NA 2.54E-06 mr1691 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
vg1117176992 NA 9.32E-11 mr1751 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
vg1117176992 NA 1.21E-06 mr1751 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
vg1117176992 NA 1.88E-08 mr1832 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
vg1117176992 4.85E-06 4.84E-06 mr1832 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
vg1117176992 NA 1.22E-06 mr1886 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
vg1117176992 NA 2.68E-09 mr1220_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
vg1117176992 NA 1.27E-06 mr1220_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
vg1117176992 NA 7.30E-06 mr1671_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