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Detailed information for vg0224817087:

Variant ID: vg0224817087 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24817087
Reference Allele: CAlternative Allele: A,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, A: 0.01, others allele: 0.00, population size: 277. )

Flanking Sequence (100 bp) in Reference Genome:


TACCAGGGGAGGGCGCCCAACGGCGTCAAGACCGGCTGGGTTATGCACGAGTTCCGCCTCGACTCCCCGCACTCCCAACCCAGGGTACGTACGTCATACA[C/A,T]
ATAAGCCGTGCGCCAACGCATTGAACTTATTTTGATCCTTATCACATTTTTTTATGTCCTCTACATAGATATAAGATTTGCTCCGATCCAATAAAAAATA

Reverse complement sequence

TATTTTTTATTGGATCGGAGCAAATCTTATATCTATGTAGAGGACATAAAAAAATGTGATAAGGATCAAAATAAGTTCAATGCGTTGGCGCACGGCTTAT[G/T,A]
TGTATGACGTACGTACCCTGGGTTGGGAGTGCGGGGAGTCGAGGCGGAACTCGTGCATAACCCAGCCGGTCTTGACGCCGTTGGGCGCCCTCCCCTGGTA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.70% 16.20% 0.13% 0.00% T: 0.04%
All Indica  2759 73.70% 26.20% 0.14% 0.00% NA
All Japonica  1512 97.70% 2.20% 0.07% 0.00% NA
Aus  269 98.90% 0.40% 0.00% 0.00% T: 0.74%
Indica I  595 81.20% 18.70% 0.17% 0.00% NA
Indica II  465 80.20% 19.80% 0.00% 0.00% NA
Indica III  913 67.80% 32.20% 0.00% 0.00% NA
Indica Intermediate  786 71.00% 28.60% 0.38% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 93.80% 6.00% 0.20% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 7.80% 1.11% 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
vg0224817087 C -> A LOC_Os02g40950.1 upstream_gene_variant ; 1752.0bp to feature; MODIFIER silent_mutation Average:67.994; most accessible tissue: Minghui63 root, score: 88.705 N N N N
vg0224817087 C -> A LOC_Os02g41450.1 intron_variant ; MODIFIER silent_mutation Average:67.994; most accessible tissue: Minghui63 root, score: 88.705 N N N N
vg0224817087 C -> T LOC_Os02g40950.1 upstream_gene_variant ; 1752.0bp to feature; MODIFIER silent_mutation Average:67.994; most accessible tissue: Minghui63 root, score: 88.705 N N N N
vg0224817087 C -> T LOC_Os02g41450.1 intron_variant ; MODIFIER silent_mutation Average:67.994; most accessible tissue: Minghui63 root, score: 88.705 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)
vg0224817087 C A -0.08 -0.08 -0.07 -0.08 -0.08 -0.07
vg0224817087 C T -0.05 -0.04 -0.03 -0.04 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224817087 NA 3.69E-09 mr1078 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
vg0224817087 NA 1.09E-06 mr1211 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
vg0224817087 NA 2.92E-06 mr1561 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
vg0224817087 NA 7.75E-08 mr1068_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
vg0224817087 NA 1.63E-07 mr1078_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
vg0224817087 NA 1.83E-06 mr1099_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
vg0224817087 3.80E-06 NA mr1124_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
vg0224817087 7.17E-06 NA mr1124_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
vg0224817087 NA 2.60E-09 mr1200_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
vg0224817087 NA 1.13E-06 mr1211_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
vg0224817087 NA 8.39E-06 mr1561_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
vg0224817087 NA 3.47E-06 mr1913_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
vg0224817087 NA 1.53E-07 mr1929_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