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Detailed information for vg0413192353:

Variant ID: vg0413192353 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 13192353
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCAAGTTTTGTGACATTTGGAATGATGGTTGCTTCACTGATTCTGCTCGGCCCAAACAGCCAGAGTTTGGTCTAGCTTAAAAGGGCCCAACTTGCTAGAA[G/A]
TGATGGCCATGTGGTTTCCCGGCCCAACCCGCAAGGCCCATGGGGCACGGTGGCGCAGTACTCGTGTAAGTGCGAAGGTGGGCTTTGTGTTGGGCCGGTG

Reverse complement sequence

CACCGGCCCAACACAAAGCCCACCTTCGCACTTACACGAGTACTGCGCCACCGTGCCCCATGGGCCTTGCGGGTTGGGCCGGGAAACCACATGGCCATCA[C/T]
TTCTAGCAAGTTGGGCCCTTTTAAGCTAGACCAAACTCTGGCTGTTTGGGCCGAGCAGAATCAGTGAAGCAACCATCATTCCAAATGTCACAAAACTTGC

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 90.30% 3.00% 2.01% 4.70% NA
All Indica  2759 83.70% 5.10% 3.37% 7.79% NA
All Japonica  1512 99.80% 0.00% 0.07% 0.13% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 78.70% 0.20% 1.68% 19.50% NA
Indica II  465 98.50% 0.00% 0.43% 1.08% NA
Indica III  913 76.60% 12.00% 6.46% 4.93% NA
Indica Intermediate  786 87.20% 3.80% 2.80% 6.23% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 0.00% 0.41% 0.83% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 1.10% 1.11% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0413192353 G -> DEL N N silent_mutation Average:46.284; most accessible tissue: Minghui63 young leaf, score: 94.396 N N N N
vg0413192353 G -> A LOC_Os04g23190.1 upstream_gene_variant ; 1153.0bp to feature; MODIFIER silent_mutation Average:46.284; most accessible tissue: Minghui63 young leaf, score: 94.396 N N N N
vg0413192353 G -> A LOC_Os04g23200.1 downstream_gene_variant ; 482.0bp to feature; MODIFIER silent_mutation Average:46.284; most accessible tissue: Minghui63 young leaf, score: 94.396 N N N N
vg0413192353 G -> A LOC_Os04g23190-LOC_Os04g23200 intergenic_region ; MODIFIER silent_mutation Average:46.284; most accessible tissue: Minghui63 young leaf, score: 94.396 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)
vg0413192353 G A 0.07 0.04 0.02 0.06 0.06 0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0413192353 NA 3.19E-07 mr1624 Ind_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