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Detailed information for vg0806065496:

Variant ID: vg0806065496 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 6065496
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, A: 0.02, others allele: 0.00, population size: 254. )

Flanking Sequence (100 bp) in Reference Genome:


CGCTAGCCCTTCGAGCTCCTCTTCTTTTGCTGTTGCCTTGCTTGCTAGCGCCATCAAGTGAGCTTAGCTTAGCTAATTACTCTATCGATCAGATACATTA[G/A]
GAAAGGACAGACTAAACGAAATACGTAGAAAGTAATCCCGGGATGTGATGTATAGAAAATACATTTACTACTTTTTGAGTAAAGTGCACTGGTGGTTCTC

Reverse complement sequence

GAGAACCACCAGTGCACTTTACTCAAAAAGTAGTAAATGTATTTTCTATACATCACATCCCGGGATTACTTTCTACGTATTTCGTTTAGTCTGTCCTTTC[C/T]
TAATGTATCTGATCGATAGAGTAATTAGCTAAGCTAAGCTCACTTGATGGCGCTAGCAAGCAAGGCAACAGCAAAAGAAGAGGAGCTCGAAGGGCTAGCG

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 91.90% 8.00% 0.04% 0.00% NA
All Indica  2759 88.00% 12.00% 0.07% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 85.10% 14.90% 0.00% 0.00% NA
Indica I  595 98.20% 1.80% 0.00% 0.00% NA
Indica II  465 93.30% 6.70% 0.00% 0.00% NA
Indica III  913 78.30% 21.60% 0.11% 0.00% NA
Indica Intermediate  786 88.30% 11.60% 0.13% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 95.60% 4.40% 0.00% 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
vg0806065496 G -> A LOC_Os08g10350.1 upstream_gene_variant ; 103.0bp to feature; MODIFIER silent_mutation Average:93.206; most accessible tissue: Zhenshan97 panicle, score: 97.957 N N N N
vg0806065496 G -> A LOC_Os08g10350-LOC_Os08g10360 intergenic_region ; MODIFIER silent_mutation Average:93.206; most accessible tissue: Zhenshan97 panicle, score: 97.957 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)
vg0806065496 G A -0.07 -0.06 -0.07 -0.05 -0.07 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0806065496 NA 7.93E-06 mr1170 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
vg0806065496 NA 8.77E-07 mr1195 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
vg0806065496 4.18E-06 4.90E-06 mr1721 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
vg0806065496 NA 9.25E-06 mr1914_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