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Detailed information for vg1227219456:

Variant ID: vg1227219456 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 27219456
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, T: 0.01, others allele: 0.00, population size: 123. )

Flanking Sequence (100 bp) in Reference Genome:


ACAAGTCGTCTGCAACCCTGCATCAATAACCTCCATACAGATAAACAAACTGGGCCTTGAGTAGTTCCCAATTTTTTTTTCTAAAAAAGTCGCATCGAAT[C/T]
TTTAAACACATACATGCAGCATTAAATATAGATTAAAAAATTTAATTACACAGTTTACATGGAAATCGCGAGAGGAATCTTTTGAGTCTAATTAGTTTAT

Reverse complement sequence

ATAAACTAATTAGACTCAAAAGATTCCTCTCGCGATTTCCATGTAAACTGTGTAATTAAATTTTTTAATCTATATTTAATGCTGCATGTATGTGTTTAAA[G/A]
ATTCGATGCGACTTTTTTAGAAAAAAAAATTGGGAACTACTCAAGGCCCAGTTTGTTTATCTGTATGGAGGTTATTGATGCAGGGTTGCAGACGACTTGT

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 62.90% 29.10% 1.42% 6.52% NA
All Indica  2759 82.60% 15.10% 0.91% 1.41% NA
All Japonica  1512 36.20% 61.70% 2.05% 0.07% NA
Aus  269 7.10% 0.00% 1.86% 91.08% NA
Indica I  595 56.30% 42.40% 1.34% 0.00% NA
Indica II  465 87.70% 10.30% 0.86% 1.08% NA
Indica III  913 96.80% 2.10% 0.11% 0.99% NA
Indica Intermediate  786 82.80% 12.50% 1.53% 3.18% NA
Temperate Japonica  767 38.90% 57.90% 3.26% 0.00% NA
Tropical Japonica  504 40.90% 58.50% 0.60% 0.00% NA
Japonica Intermediate  241 17.80% 80.50% 1.24% 0.41% NA
VI/Aromatic  96 75.00% 5.20% 0.00% 19.79% NA
Intermediate  90 64.40% 24.40% 6.67% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1227219456 C -> DEL N N silent_mutation Average:69.33; most accessible tissue: Minghui63 panicle, score: 95.701 N N N N
vg1227219456 C -> T LOC_Os12g43840.1 upstream_gene_variant ; 397.0bp to feature; MODIFIER silent_mutation Average:69.33; most accessible tissue: Minghui63 panicle, score: 95.701 N N N N
vg1227219456 C -> T LOC_Os12g43850.1 upstream_gene_variant ; 925.0bp to feature; MODIFIER silent_mutation Average:69.33; most accessible tissue: Minghui63 panicle, score: 95.701 N N N N
vg1227219456 C -> T LOC_Os12g43840.2 upstream_gene_variant ; 397.0bp to feature; MODIFIER silent_mutation Average:69.33; most accessible tissue: Minghui63 panicle, score: 95.701 N N N N
vg1227219456 C -> T LOC_Os12g43840-LOC_Os12g43850 intergenic_region ; MODIFIER silent_mutation Average:69.33; most accessible tissue: Minghui63 panicle, score: 95.701 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)
vg1227219456 C T -0.05 -0.04 -0.04 -0.05 -0.04 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1227219456 1.06E-06 NA mr1580 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