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Detailed information for vg1001214204:

Variant ID: vg1001214204 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 1214204
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.96, C: 0.04, others allele: 0.00, population size: 115. )

Flanking Sequence (100 bp) in Reference Genome:


CTAGAGAAAATAAAAGTTTTCACAAACGGAACTTAACCGCTAGCCAAAACGGATTTTCGCTGGCGGCTCTATTACATGGGCCGCCAGTGAAAACGGATTT[T/C]
CGCTGGCAGTTGTCTTATGCGGGCCGCTGACAATGGTCCATTTTCGCTGGCAATGGTTCTCTTCTCTGCATCCAGATCCATCATACGACGCTTGTACAGC

Reverse complement sequence

GCTGTACAAGCGTCGTATGATGGATCTGGATGCAGAGAAGAGAACCATTGCCAGCGAAAATGGACCATTGTCAGCGGCCCGCATAAGACAACTGCCAGCG[A/G]
AAATCCGTTTTCACTGGCGGCCCATGTAATAGAGCCGCCAGCGAAAATCCGTTTTGGCTAGCGGTTAAGTTCCGTTTGTGAAAACTTTTATTTTCTCTAG

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 88.10% 10.30% 0.78% 0.80% NA
All Indica  2759 80.20% 17.00% 1.34% 1.38% NA
All Japonica  1512 99.80% 0.20% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 67.10% 31.40% 0.65% 0.86% NA
Indica III  913 72.50% 21.70% 2.85% 2.96% NA
Indica Intermediate  786 83.10% 15.00% 1.02% 0.89% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 84.40% 15.60% 0.00% 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
vg1001214204 T -> C LOC_Os10g02940.1 missense_variant ; p.Lys184Glu; MODERATE nonsynonymous_codon ; K184E Average:85.819; most accessible tissue: Zhenshan97 panicle, score: 90.061 unknown unknown DELETERIOUS 0.00
vg1001214204 T -> DEL LOC_Os10g02940.1 N frameshift_variant Average:85.819; most accessible tissue: Zhenshan97 panicle, score: 90.061 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)
vg1001214204 T C 0.1 0.05 0.05 0.08 0.11 0.11

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1001214204 3.68E-15 NA mr1486 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
vg1001214204 2.85E-17 6.04E-16 mr1486 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
vg1001214204 4.87E-14 NA mr1548 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
vg1001214204 2.28E-13 7.04E-12 mr1548 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
vg1001214204 1.22E-07 NA mr1588 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
vg1001214204 4.90E-09 1.83E-09 mr1588 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
vg1001214204 NA 2.42E-06 mr1158_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
vg1001214204 4.83E-17 NA mr1486_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
vg1001214204 8.56E-20 1.24E-22 mr1486_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
vg1001214204 9.69E-11 NA mr1588_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
vg1001214204 1.83E-12 3.28E-12 mr1588_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