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Detailed information for vg1227329837:

Variant ID: vg1227329837 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 27329837
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAGGGATGCGCTGAGCGCTGGAGCCAAAGCCAGCGAACACGCAGGGAAAAACCTGCCAACCTAAGGTCATGAATTCCCAACCCACCGAAAGCTCTGGGAC[A/G]
ACAGACATTCGTCCAAGAAAACCGGCACTGCCCACCGTGAGCCGAGTCCATGCCCGTCCACAAGAAGGCGCGACGCTTCTTATTAATGGCCTTGATCACT

Reverse complement sequence

AGTGATCAAGGCCATTAATAAGAAGCGTCGCGCCTTCTTGTGGACGGGCATGGACTCGGCTCACGGTGGGCAGTGCCGGTTTTCTTGGACGAATGTCTGT[T/C]
GTCCCAGAGCTTTCGGTGGGTTGGGAATTCATGACCTTAGGTTGGCAGGTTTTTCCCTGCGTGTTCGCTGGCTTTGGCTCCAGCGCTCAGCGCATCCCTA

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 66.40% 33.60% 0.04% 0.00% NA
All Indica  2759 97.30% 2.60% 0.07% 0.00% NA
All Japonica  1512 7.40% 92.60% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 99.20% 0.80% 0.00% 0.00% NA
Indica II  465 98.70% 1.30% 0.00% 0.00% NA
Indica III  913 95.90% 4.10% 0.00% 0.00% NA
Indica Intermediate  786 96.70% 3.10% 0.25% 0.00% NA
Temperate Japonica  767 12.40% 87.60% 0.00% 0.00% NA
Tropical Japonica  504 0.80% 99.20% 0.00% 0.00% NA
Japonica Intermediate  241 5.40% 94.60% 0.00% 0.00% NA
VI/Aromatic  96 22.90% 77.10% 0.00% 0.00% NA
Intermediate  90 55.60% 44.40% 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
vg1227329837 A -> G LOC_Os12g44060.1 downstream_gene_variant ; 2335.0bp to feature; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 panicle, score: 89.846 N N N N
vg1227329837 A -> G LOC_Os12g44070.1 downstream_gene_variant ; 159.0bp to feature; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 panicle, score: 89.846 N N N N
vg1227329837 A -> G LOC_Os12g44060-LOC_Os12g44070 intergenic_region ; MODIFIER silent_mutation Average:76.868; most accessible tissue: Zhenshan97 panicle, score: 89.846 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)
vg1227329837 A G -0.04 -0.02 -0.02 -0.01 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1227329837 8.74E-06 5.83E-30 mr1024 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
vg1227329837 NA 6.13E-35 mr1542 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
vg1227329837 NA 1.38E-12 mr1579 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
vg1227329837 NA 7.54E-30 mr1922 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
vg1227329837 2.94E-07 7.12E-28 mr1024_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
vg1227329837 4.78E-07 4.78E-07 mr1024_2 Jap_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
vg1227329837 2.86E-07 NA mr1410_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
vg1227329837 NA 1.67E-06 mr1565_2 Jap_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
vg1227329837 NA 3.06E-19 mr1657_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
vg1227329837 7.10E-07 7.10E-07 mr1915_2 Jap_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