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Detailed information for vg1206223802:

Variant ID: vg1206223802 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 6223802
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTAAATGAAATCGATGGTTAGATGCTTTACTTTTTTTTCTTAGAATTTCTATAATTTATTAGAGTGCAACATGGCGGTGTAAGAGCGTTTCTAGATATG[C/T]
CACGTGGCAGCTTAGGAGTGTTTATAAAAAGTTTAATGGACTTTTAGTATAAAATAGATTCAGATGCAAAGTAGATCAAGAAAAGCCCATATGTGAATCC

Reverse complement sequence

GGATTCACATATGGGCTTTTCTTGATCTACTTTGCATCTGAATCTATTTTATACTAAAAGTCCATTAAACTTTTTATAAACACTCCTAAGCTGCCACGTG[G/A]
CATATCTAGAAACGCTCTTACACCGCCATGTTGCACTCTAATAAATTATAGAAATTCTAAGAAAAAAAAGTAAAGCATCTAACCATCGATTTCATTTAAT

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 71.80% 1.70% 0.57% 25.88% NA
All Indica  2759 95.50% 1.90% 0.04% 2.57% NA
All Japonica  1512 32.60% 0.30% 1.26% 65.87% NA
Aus  269 66.50% 7.40% 0.74% 25.28% NA
Indica I  595 92.40% 6.40% 0.00% 1.18% NA
Indica II  465 97.80% 0.00% 0.00% 2.15% NA
Indica III  913 97.20% 0.30% 0.11% 2.41% NA
Indica Intermediate  786 94.40% 1.50% 0.00% 4.07% NA
Temperate Japonica  767 43.20% 0.00% 1.43% 55.41% NA
Tropical Japonica  504 12.90% 0.20% 1.39% 85.52% NA
Japonica Intermediate  241 40.20% 1.20% 0.41% 58.09% NA
VI/Aromatic  96 35.40% 3.10% 3.12% 58.33% NA
Intermediate  90 60.00% 2.20% 2.22% 35.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1206223802 C -> DEL N N silent_mutation Average:73.936; most accessible tissue: Zhenshan97 root, score: 91.959 N N N N
vg1206223802 C -> T LOC_Os12g11500.1 upstream_gene_variant ; 442.0bp to feature; MODIFIER silent_mutation Average:73.936; most accessible tissue: Zhenshan97 root, score: 91.959 N N N N
vg1206223802 C -> T LOC_Os12g11490-LOC_Os12g11500 intergenic_region ; MODIFIER silent_mutation Average:73.936; most accessible tissue: Zhenshan97 root, score: 91.959 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)
vg1206223802 C T 0.04 0.01 0.0 0.02 0.03 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1206223802 NA 1.12E-14 mr1570 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
vg1206223802 NA 6.93E-07 mr1380_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
vg1206223802 NA 3.52E-07 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
vg1206223802 NA 5.70E-06 mr1875_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
vg1206223802 NA 7.67E-06 mr1908_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