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Detailed information for vg0228470723:

Variant ID: vg0228470723 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 28470723
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGGCAGTCGCCGCAACCCCCGGGCTCGACCCCCCTCGGGGAGAGCCACGTGGGTTTGAGGGCGGCCTCCTCCCTCTAGCTGGGAGAGGGTAGCCACCGCT[C/T]
CACCCCGGGCTTGATCCCCCCTCGCGGGGAGCCACGTGGGTTTGGGGGCGACTCGACCCCAAGCTGGGAGGGGGCAGCCGCCACAACACCCCGGGCTCGA

Reverse complement sequence

TCGAGCCCGGGGTGTTGTGGCGGCTGCCCCCTCCCAGCTTGGGGTCGAGTCGCCCCCAAACCCACGTGGCTCCCCGCGAGGGGGGATCAAGCCCGGGGTG[G/A]
AGCGGTGGCTACCCTCTCCCAGCTAGAGGGAGGAGGCCGCCCTCAAACCCACGTGGCTCTCCCCGAGGGGGGTCGAGCCCGGGGGTTGCGGCGACTGCCC

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 95.50% 4.00% 0.47% 0.00% NA
All Indica  2759 96.70% 3.20% 0.11% 0.00% NA
All Japonica  1512 93.10% 5.60% 1.26% 0.00% NA
Aus  269 95.50% 4.50% 0.00% 0.00% NA
Indica I  595 99.70% 0.00% 0.34% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 92.20% 7.70% 0.11% 0.00% NA
Indica Intermediate  786 98.00% 2.00% 0.00% 0.00% NA
Temperate Japonica  767 93.60% 4.80% 1.56% 0.00% NA
Tropical Japonica  504 95.80% 3.80% 0.40% 0.00% NA
Japonica Intermediate  241 85.90% 12.00% 2.07% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 6.70% 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
vg0228470723 C -> T LOC_Os02g46640.1 upstream_gene_variant ; 3361.0bp to feature; MODIFIER silent_mutation Average:80.046; most accessible tissue: Zhenshan97 flag leaf, score: 92.381 N N N N
vg0228470723 C -> T LOC_Os02g46650.1 upstream_gene_variant ; 2102.0bp to feature; MODIFIER silent_mutation Average:80.046; most accessible tissue: Zhenshan97 flag leaf, score: 92.381 N N N N
vg0228470723 C -> T LOC_Os02g46640-LOC_Os02g46650 intergenic_region ; MODIFIER silent_mutation Average:80.046; most accessible tissue: Zhenshan97 flag leaf, score: 92.381 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)
vg0228470723 C T -0.02 -0.02 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0228470723 6.89E-07 5.32E-08 mr1219 Jap_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
vg0228470723 NA 9.22E-06 mr1274 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
vg0228470723 NA 3.05E-06 mr1201_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
vg0228470723 1.40E-06 3.96E-08 mr1219_2 Jap_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