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Detailed information for vg1221594087:

Variant ID: vg1221594087 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 21594087
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.80, C: 0.20, others allele: 0.00, population size: 55. )

Flanking Sequence (100 bp) in Reference Genome:


AAACCCTAGTTGCTTTCCTCCCTCAAATCCACACGATTCAAACATGGGATTCCAAAATTAATTAGGGAGAATTAATCCCCTTTCCTTCCTCTTCAATTGC[G/C]
CCTAAGGCCTCGTTCGGATAGAGCCCGGCCTTTTCCCTCCAATCCCTAGGGATATTGGTCCACCACCCAGACCAGTGGAAATCCACCACTCGCCGCCGCC

Reverse complement sequence

GGCGGCGGCGAGTGGTGGATTTCCACTGGTCTGGGTGGTGGACCAATATCCCTAGGGATTGGAGGGAAAAGGCCGGGCTCTATCCGAACGAGGCCTTAGG[C/G]
GCAATTGAAGAGGAAGGAAAGGGGATTAATTCTCCCTAATTAATTTTGGAATCCCATGTTTGAATCGTGTGGATTTGAGGGAGGAAAGCAACTAGGGTTT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.40% 13.40% 10.58% 6.64% NA
All Indica  2759 58.00% 17.90% 14.06% 10.08% NA
All Japonica  1512 99.10% 0.60% 0.26% 0.00% NA
Aus  269 16.70% 41.60% 28.62% 13.01% NA
Indica I  595 66.60% 10.10% 19.66% 3.70% NA
Indica II  465 70.80% 19.80% 9.03% 0.43% NA
Indica III  913 40.70% 25.60% 14.02% 19.61% NA
Indica Intermediate  786 63.90% 13.70% 12.85% 9.54% NA
Temperate Japonica  767 99.20% 0.70% 0.13% 0.00% NA
Tropical Japonica  504 99.40% 0.40% 0.20% 0.00% NA
Japonica Intermediate  241 98.30% 0.80% 0.83% 0.00% NA
VI/Aromatic  96 65.60% 11.50% 22.92% 0.00% NA
Intermediate  90 80.00% 8.90% 10.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1221594087 G -> C LOC_Os12g35510.1 downstream_gene_variant ; 3328.0bp to feature; MODIFIER silent_mutation Average:95.65; most accessible tissue: Zhenshan97 young leaf, score: 97.853 N N N N
vg1221594087 G -> C LOC_Os12g35490-LOC_Os12g35510 intergenic_region ; MODIFIER silent_mutation Average:95.65; most accessible tissue: Zhenshan97 young leaf, score: 97.853 N N N N
vg1221594087 G -> DEL N N silent_mutation Average:95.65; most accessible tissue: Zhenshan97 young leaf, score: 97.853 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)
vg1221594087 G C -0.09 -0.05 -0.05 -0.07 -0.07 -0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1221594087 8.31E-06 NA mr1826 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