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Detailed information for vg1227059828:

Variant ID: vg1227059828 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 27059828
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 73. )

Flanking Sequence (100 bp) in Reference Genome:


ACAAAATGTGCTCCGTGCATACGTGGTGGTGACTCACATTCGTATGAATACGGACAAACAAATTCATGCTTCGTGTATATATACTAGTTGCAAACGTATC[G/A]
GCATGTAAGTAAATTAAGTGTACGTGCTTAGCCTAACTTAGTAAGTTAACCACACTAAAAAAAAATGTATACGCTATAAGCGTGCGTGACACATTGCTAC

Reverse complement sequence

GTAGCAATGTGTCACGCACGCTTATAGCGTATACATTTTTTTTTAGTGTGGTTAACTTACTAAGTTAGGCTAAGCACGTACACTTAATTTACTTACATGC[C/T]
GATACGTTTGCAACTAGTATATATACACGAAGCATGAATTTGTTTGTCCGTATTCATACGAATGTGAGTCACCACCACGTATGCACGGAGCACATTTTGT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.10% 21.70% 0.17% 0.00% NA
All Indica  2759 63.50% 36.20% 0.22% 0.00% NA
All Japonica  1512 99.70% 0.20% 0.07% 0.00% NA
Aus  269 96.30% 3.70% 0.00% 0.00% NA
Indica I  595 88.10% 11.60% 0.34% 0.00% NA
Indica II  465 49.70% 50.30% 0.00% 0.00% NA
Indica III  913 58.20% 41.60% 0.22% 0.00% NA
Indica Intermediate  786 59.40% 40.30% 0.25% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 84.40% 14.40% 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
vg1227059828 G -> A LOC_Os12g43590.1 upstream_gene_variant ; 2856.0bp to feature; MODIFIER silent_mutation Average:93.917; most accessible tissue: Minghui63 young leaf, score: 96.16 N N N N
vg1227059828 G -> A LOC_Os12g43600.1 upstream_gene_variant ; 400.0bp to feature; MODIFIER silent_mutation Average:93.917; most accessible tissue: Minghui63 young leaf, score: 96.16 N N N N
vg1227059828 G -> A LOC_Os12g43590-LOC_Os12g43600 intergenic_region ; MODIFIER silent_mutation Average:93.917; most accessible tissue: Minghui63 young leaf, score: 96.16 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)
vg1227059828 G A -0.02 -0.02 -0.02 -0.01 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1227059828 NA 7.77E-06 mr1531 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
vg1227059828 NA 9.95E-06 mr1729 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
vg1227059828 3.21E-06 1.79E-06 mr1984 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
vg1227059828 NA 3.38E-07 mr1984 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
vg1227059828 NA 9.14E-09 mr1322_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
vg1227059828 NA 5.66E-09 mr1690_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
vg1227059828 NA 9.40E-06 mr1992_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