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Detailed information for vg0500745591:

Variant ID: vg0500745591 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 745591
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.67, A: 0.33, others allele: 0.00, population size: 36. )

Flanking Sequence (100 bp) in Reference Genome:


TCATGTATACATATAGTTTTACATATTTCACAAATTATTTTGAATAAGACGAACGGTCAAACATGTGCTGAAAAGTCAACGGTGTCAGACATTTTGAAAC[G/A]
GAGTAATATATTCTAAGCTTGCATCATCGGTTAGTTTCAGTTGACCATGAATCTTCTTGTCTGACTCTAAAACATGCATGCATGTGCCTCCTGTTAGCTC

Reverse complement sequence

GAGCTAACAGGAGGCACATGCATGCATGTTTTAGAGTCAGACAAGAAGATTCATGGTCAACTGAAACTAACCGATGATGCAAGCTTAGAATATATTACTC[C/T]
GTTTCAAAATGTCTGACACCGTTGACTTTTCAGCACATGTTTGACCGTTCGTCTTATTCAAAATAATTTGTGAAATATGTAAAACTATATGTATACATGA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.90% 30.70% 0.06% 22.34% NA
All Indica  2759 67.50% 2.40% 0.04% 30.01% NA
All Japonica  1512 3.50% 88.20% 0.07% 8.27% NA
Aus  269 88.10% 0.70% 0.00% 11.15% NA
Indica I  595 97.30% 0.30% 0.00% 2.35% NA
Indica II  465 73.50% 4.10% 0.00% 22.37% NA
Indica III  913 39.50% 2.70% 0.00% 57.72% NA
Indica Intermediate  786 73.90% 2.70% 0.13% 23.28% NA
Temperate Japonica  767 5.10% 94.40% 0.13% 0.39% NA
Tropical Japonica  504 0.00% 78.60% 0.00% 21.43% NA
Japonica Intermediate  241 5.80% 88.40% 0.00% 5.81% NA
VI/Aromatic  96 26.00% 9.40% 1.04% 63.54% NA
Intermediate  90 41.10% 45.60% 0.00% 13.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0500745591 G -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500745591 G -> A LOC_Os05g02310.1 upstream_gene_variant ; 2625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500745591 G -> A LOC_Os05g02320.1 upstream_gene_variant ; 2493.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500745591 G -> A LOC_Os05g02310-LOC_Os05g02320 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0500745591 G A -0.06 -0.06 -0.04 -0.02 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500745591 NA 3.13E-09 mr1198 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
vg0500745591 NA 3.94E-09 mr1275 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
vg0500745591 NA 9.43E-08 mr1321_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
vg0500745591 NA 2.77E-09 mr1946_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
vg0500745591 NA 2.77E-09 mr1948_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
vg0500745591 9.28E-07 NA mr1973_2 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