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Detailed information for vg0519836648:

Variant ID: vg0519836648 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 19836648
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: 250. )

Flanking Sequence (100 bp) in Reference Genome:


CCACTTGTTAGAGTACGCAGCCCGGCCCATCAACTATGGGCCACCCAGGTCACATTGGGCCTGCTCCACCACAGGCCCAACCGGAGCCACAACTTTAGGT[C/T]
CTGCGCCTACACAACCCAAAAGACTAGTCTGATGGGTGAGGACCGCCCCCACCTTTTAAGTCGTGCTCCCCCACCATCAATTACCGATGTGGGACTAAAC

Reverse complement sequence

GTTTAGTCCCACATCGGTAATTGATGGTGGGGGAGCACGACTTAAAAGGTGGGGGCGGTCCTCACCCATCAGACTAGTCTTTTGGGTTGTGTAGGCGCAG[G/A]
ACCTAAAGTTGTGGCTCCGGTTGGGCCTGTGGTGGAGCAGGCCCAATGTGACCTGGGTGGCCCATAGTTGATGGGCCGGGCTGCGTACTCTAACAAGTGG

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 81.60% 9.80% 1.82% 6.77% NA
All Indica  2759 70.50% 15.60% 2.90% 11.02% NA
All Japonica  1512 98.10% 1.00% 0.20% 0.66% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 86.70% 7.20% 2.18% 3.87% NA
Indica II  465 52.90% 20.60% 7.10% 19.35% NA
Indica III  913 74.80% 14.10% 1.10% 9.97% NA
Indica Intermediate  786 63.60% 20.60% 3.05% 12.72% NA
Temperate Japonica  767 96.90% 1.60% 0.26% 1.30% NA
Tropical Japonica  504 99.40% 0.40% 0.20% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 72.20% 17.80% 3.33% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0519836648 C -> T LOC_Os05g33710.1 downstream_gene_variant ; 1141.0bp to feature; MODIFIER silent_mutation Average:82.64; most accessible tissue: Zhenshan97 flag leaf, score: 93.554 N N N N
vg0519836648 C -> T LOC_Os05g33700.1 intron_variant ; MODIFIER silent_mutation Average:82.64; most accessible tissue: Zhenshan97 flag leaf, score: 93.554 N N N N
vg0519836648 C -> DEL N N silent_mutation Average:82.64; most accessible tissue: Zhenshan97 flag leaf, score: 93.554 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)
vg0519836648 C T -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0519836648 NA 7.91E-06 mr1550 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
vg0519836648 NA 8.62E-08 mr1517_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
vg0519836648 NA 2.38E-07 mr1550_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
vg0519836648 NA 8.85E-06 mr1592_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
vg0519836648 4.00E-06 4.00E-06 mr1736_2 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