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Detailed information for vg0410386441:

Variant ID: vg0410386441 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 10386441
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTACACCAAAAGTTGATACAAATCAGAGTTTAACAAGCGGAAGCGTAAATAGAATTATTACACGGGCAACGAAGGCCCAGCACACTCAAAGACAACGAA[A/G]
AACAGCGGAAGACTAGGGCGAAGACCACAGGCACTTGACGGCAGGCACGAGCTAGACACCAAAGCCTTCATCTTCAGGGAACTCCTCATCTGGGCTTGGG

Reverse complement sequence

CCCAAGCCCAGATGAGGAGTTCCCTGAAGATGAAGGCTTTGGTGTCTAGCTCGTGCCTGCCGTCAAGTGCCTGTGGTCTTCGCCCTAGTCTTCCGCTGTT[T/C]
TTCGTTGTCTTTGAGTGTGCTGGGCCTTCGTTGCCCGTGTAATAATTCTATTTACGCTTCCGCTTGTTAAACTCTGATTTGTATCAACTTTTGGTGTACC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 41.50% 0.30% 9.94% 48.20% NA
All Indica  2759 29.20% 0.50% 9.57% 60.64% NA
All Japonica  1512 62.20% 0.10% 11.31% 26.39% NA
Aus  269 50.20% 0.00% 5.95% 43.87% NA
Indica I  595 15.80% 0.00% 6.05% 78.15% NA
Indica II  465 25.20% 2.40% 14.62% 57.85% NA
Indica III  913 38.70% 0.00% 10.19% 51.15% NA
Indica Intermediate  786 30.90% 0.50% 8.52% 60.05% NA
Temperate Japonica  767 96.20% 0.00% 0.13% 3.65% NA
Tropical Japonica  504 6.50% 0.00% 29.76% 63.69% NA
Japonica Intermediate  241 70.50% 0.40% 8.30% 20.75% NA
VI/Aromatic  96 40.60% 0.00% 8.33% 51.04% NA
Intermediate  90 44.40% 0.00% 12.22% 43.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0410386441 A -> DEL N N silent_mutation Average:64.852; most accessible tissue: Minghui63 young leaf, score: 94.549 N N N N
vg0410386441 A -> G LOC_Os04g18720.1 upstream_gene_variant ; 2044.0bp to feature; MODIFIER silent_mutation Average:64.852; most accessible tissue: Minghui63 young leaf, score: 94.549 N N N N
vg0410386441 A -> G LOC_Os04g18730.1 upstream_gene_variant ; 1905.0bp to feature; MODIFIER silent_mutation Average:64.852; most accessible tissue: Minghui63 young leaf, score: 94.549 N N N N
vg0410386441 A -> G LOC_Os04g18720-LOC_Os04g18730 intergenic_region ; MODIFIER silent_mutation Average:64.852; most accessible tissue: Minghui63 young leaf, score: 94.549 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)
vg0410386441 A G 0.01 0.01 0.01 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0410386441 NA 2.02E-06 mr1130 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
vg0410386441 NA 3.16E-06 mr1254 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
vg0410386441 9.23E-08 9.23E-08 mr1926 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