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Detailed information for vg0140997622:

Variant ID: vg0140997622 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 40997622
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.96, T: 0.05, others allele: 0.00, population size: 168. )

Flanking Sequence (100 bp) in Reference Genome:


TTGGGAACCTCCGATGCACGGAAAACAAAGCGGTCATCCCATGCACGAAAAACGGAGCGGTCCATTAGCGCGTGATTAATTAAGTATTAGCTATTTTTTT[A/T]
AAAAAATAGATCAATATGATTTTTGAAAACAACTTTTATATAAAAACTTTTTAAAAAAAACATACCGTTTAGCAGTTTGAAAAGCGTGCGCAGCAGGGTT

Reverse complement sequence

AACCCTGCTGCGCACGCTTTTCAAACTGCTAAACGGTATGTTTTTTTTAAAAAGTTTTTATATAAAAGTTGTTTTCAAAAATCATATTGATCTATTTTTT[T/A]
AAAAAAATAGCTAATACTTAATTAATCACGCGCTAATGGACCGCTCCGTTTTTCGTGCATGGGATGACCGCTTTGTTTTCCGTGCATCGGAGGTTCCCAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.40% 48.60% 1.95% 0.00% NA
All Indica  2759 81.20% 15.50% 3.26% 0.00% NA
All Japonica  1512 2.70% 97.20% 0.07% 0.00% NA
Aus  269 5.60% 94.40% 0.00% 0.00% NA
Indica I  595 80.20% 12.40% 7.39% 0.00% NA
Indica II  465 83.70% 14.40% 1.94% 0.00% NA
Indica III  913 82.70% 16.60% 0.66% 0.00% NA
Indica Intermediate  786 78.80% 17.30% 3.94% 0.00% NA
Temperate Japonica  767 1.60% 98.40% 0.00% 0.00% NA
Tropical Japonica  504 4.40% 95.40% 0.20% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 41.10% 57.80% 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
vg0140997622 A -> T LOC_Os01g70810.1 downstream_gene_variant ; 4652.0bp to feature; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 N N N N
vg0140997622 A -> T LOC_Os01g70820.1 downstream_gene_variant ; 490.0bp to feature; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 N N N N
vg0140997622 A -> T LOC_Os01g70830.1 downstream_gene_variant ; 2206.0bp to feature; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 N N N N
vg0140997622 A -> T LOC_Os01g70840.1 downstream_gene_variant ; 4812.0bp to feature; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 N N N N
vg0140997622 A -> T LOC_Os01g70840.2 downstream_gene_variant ; 4812.0bp to feature; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 N N N N
vg0140997622 A -> T LOC_Os01g70820-LOC_Os01g70830 intergenic_region ; MODIFIER silent_mutation Average:81.38; most accessible tissue: Minghui63 young leaf, score: 98.688 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)
vg0140997622 A T 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0140997622 5.76E-06 8.78E-06 mr1127 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
vg0140997622 5.59E-06 6.91E-07 mr1286 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
vg0140997622 7.52E-06 2.61E-06 mr1413 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
vg0140997622 NA 2.61E-06 mr1418 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
vg0140997622 8.55E-07 5.07E-06 mr1468 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
vg0140997622 3.24E-07 3.24E-07 mr1468 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
vg0140997622 NA 1.46E-06 mr1665 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
vg0140997622 8.74E-06 8.74E-06 mr1774 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
vg0140997622 1.02E-06 1.54E-08 mr1797 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
vg0140997622 3.26E-06 8.80E-07 mr1797 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
vg0140997622 1.02E-06 1.54E-08 mr1801 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
vg0140997622 3.26E-06 8.80E-07 mr1801 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
vg0140997622 5.85E-06 5.85E-06 mr1854 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