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Detailed information for vg0107903346:

Variant ID: vg0107903346 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 7903346
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, T: 0.01, others allele: 0.00, population size: 232. )

Flanking Sequence (100 bp) in Reference Genome:


TGCATGTTTTTGTACCTTATCTTACGAAGAAATCGTCCTGACAAGTGGATAGTATGGGAGATTGGGAGATAATACCTATTTTGAGAGAATTCACATTTTT[T/C]
TCTCTCCAATTCTTCGCAAGCAAAAAAAAAAAAAGAGAGAACATATAATCCCTGATTAACACAGGGCAAAACACACTAATCCCCAATCACAGCATAATAC

Reverse complement sequence

GTATTATGCTGTGATTGGGGATTAGTGTGTTTTGCCCTGTGTTAATCAGGGATTATATGTTCTCTCTTTTTTTTTTTTTGCTTGCGAAGAATTGGAGAGA[A/G]
AAAAATGTGAATTCTCTCAAAATAGGTATTATCTCCCAATCTCCCATACTATCCACTTGTCAGGACGATTTCTTCGTAAGATAAGGTACAAAAACATGCA

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 91.20% 8.70% 0.04% 0.00% NA
All Indica  2759 95.00% 4.90% 0.04% 0.00% NA
All Japonica  1512 97.80% 2.20% 0.00% 0.00% NA
Aus  269 12.60% 87.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 97.00% 2.80% 0.22% 0.00% NA
Indica III  913 91.80% 8.20% 0.00% 0.00% NA
Indica Intermediate  786 93.90% 6.10% 0.00% 0.00% NA
Temperate Japonica  767 95.80% 4.20% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 94.40% 4.40% 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
vg0107903346 T -> C LOC_Os01g14100.1 upstream_gene_variant ; 2472.0bp to feature; MODIFIER silent_mutation Average:77.099; most accessible tissue: Minghui63 young leaf, score: 90.072 N N N N
vg0107903346 T -> C LOC_Os01g14100.3 upstream_gene_variant ; 2472.0bp to feature; MODIFIER silent_mutation Average:77.099; most accessible tissue: Minghui63 young leaf, score: 90.072 N N N N
vg0107903346 T -> C LOC_Os01g14100.2 upstream_gene_variant ; 2472.0bp to feature; MODIFIER silent_mutation Average:77.099; most accessible tissue: Minghui63 young leaf, score: 90.072 N N N N
vg0107903346 T -> C LOC_Os01g14110.1 downstream_gene_variant ; 467.0bp to feature; MODIFIER silent_mutation Average:77.099; most accessible tissue: Minghui63 young leaf, score: 90.072 N N N N
vg0107903346 T -> C LOC_Os01g14100-LOC_Os01g14110 intergenic_region ; MODIFIER silent_mutation Average:77.099; most accessible tissue: Minghui63 young leaf, score: 90.072 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)
vg0107903346 T C -0.01 -0.04 -0.04 0.0 -0.01 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0107903346 NA 8.28E-15 mr1113 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
vg0107903346 NA 2.87E-08 mr1510_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
vg0107903346 NA 1.68E-14 mr1583_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
vg0107903346 4.97E-06 NA mr1705_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
vg0107903346 NA 1.34E-06 mr1740_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
vg0107903346 NA 1.22E-08 mr1741_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