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Detailed information for vg0101342348:

Variant ID: vg0101342348 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 1342348
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

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

Flanking Sequence (100 bp) in Reference Genome:


GTGAAATGCATGCATGGGGTGTTATTTATCGAGCAACTAAACTGAGAGCTAGCTATAAGAGCAAGTTTAATAGTATAGTCAACTATTAGCTCCAATTTAT[C/T]
TATAGCCAATCTGATAGCTCATTTATACAATAGTTACATACTACACTATCAATAACTAGTCCCACCTGTCATATATACACCGCGTCTTGGAGTCCGTACT

Reverse complement sequence

AGTACGGACTCCAAGACGCGGTGTATATATGACAGGTGGGACTAGTTATTGATAGTGTAGTATGTAACTATTGTATAAATGAGCTATCAGATTGGCTATA[G/A]
ATAAATTGGAGCTAATAGTTGACTATACTATTAAACTTGCTCTTATAGCTAGCTCTCAGTTTAGTTGCTCGATAAATAACACCCCATGCATGCATTTCAC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.20% 17.50% 0.63% 7.70% NA
All Indica  2759 70.40% 26.30% 0.69% 2.65% NA
All Japonica  1512 91.00% 6.30% 0.07% 2.65% NA
Aus  269 14.10% 0.00% 2.97% 82.90% NA
Indica I  595 70.90% 28.10% 1.01% 0.00% NA
Indica II  465 94.40% 5.20% 0.22% 0.22% NA
Indica III  913 60.80% 35.80% 0.44% 2.96% NA
Indica Intermediate  786 66.90% 26.30% 1.02% 5.73% NA
Temperate Japonica  767 87.50% 12.00% 0.13% 0.39% NA
Tropical Japonica  504 98.60% 0.40% 0.00% 0.99% NA
Japonica Intermediate  241 86.30% 0.40% 0.00% 13.28% NA
VI/Aromatic  96 80.20% 1.00% 1.04% 17.71% NA
Intermediate  90 80.00% 6.70% 1.11% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0101342348 C -> T LOC_Os01g03310.1 upstream_gene_variant ; 3209.0bp to feature; MODIFIER silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 N N N N
vg0101342348 C -> T LOC_Os01g03320.1 upstream_gene_variant ; 71.0bp to feature; MODIFIER silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 N N N N
vg0101342348 C -> T LOC_Os01g03300.1 downstream_gene_variant ; 4941.0bp to feature; MODIFIER silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 N N N N
vg0101342348 C -> T LOC_Os01g03330.1 downstream_gene_variant ; 2209.0bp to feature; MODIFIER silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 N N N N
vg0101342348 C -> T LOC_Os01g03320-LOC_Os01g03330 intergenic_region ; MODIFIER silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 N N N N
vg0101342348 C -> DEL N N silent_mutation Average:87.257; most accessible tissue: Minghui63 young leaf, score: 97.127 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)
vg0101342348 C T 0.07 0.04 0.01 -0.01 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0101342348 NA 1.25E-06 mr1585 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
vg0101342348 NA 3.34E-06 mr1667 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
vg0101342348 NA 1.69E-09 mr1707 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
vg0101342348 NA 5.02E-06 mr1707 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
vg0101342348 NA 9.99E-11 mr1728 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
vg0101342348 NA 1.17E-07 mr1728 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
vg0101342348 NA 2.44E-06 mr1798 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
vg0101342348 NA 9.80E-06 mr1860 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
vg0101342348 2.83E-06 2.83E-06 mr1899 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
vg0101342348 NA 2.37E-06 mr1860_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