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Detailed information for vg0100617428:

Variant ID: vg0100617428 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 617428
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.53, G: 0.49, others allele: 0.00, population size: 82. )

Flanking Sequence (100 bp) in Reference Genome:


ACTTGAGGTGTATAAACTTTAGGTGTATAAATTTACTAAAATAGAAAAGTAATATGGTGCCAAAAAAGGAAACCAGTTGGAGGGGTGGAGGGAGGGAGGC[A/G]
GGAGGGGATCGATCGCTACCCCCGTCTCCAGGTGATCGATCGCCCATTAGGATCCCCCGTGTCCGCGCGCAACCGGGGGATCTACACTACCGAATACTGT

Reverse complement sequence

ACAGTATTCGGTAGTGTAGATCCCCCGGTTGCGCGCGGACACGGGGGATCCTAATGGGCGATCGATCACCTGGAGACGGGGGTAGCGATCGATCCCCTCC[T/C]
GCCTCCCTCCCTCCACCCCTCCAACTGGTTTCCTTTTTTGGCACCATATTACTTTTCTATTTTAGTAAATTTATACACCTAAAGTTTATACACCTCAAGT

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 44.20% 32.90% 7.60% 15.32% NA
All Indica  2759 17.10% 45.70% 11.89% 25.34% NA
All Japonica  1512 92.30% 5.30% 1.92% 0.46% NA
Aus  269 38.70% 61.00% 0.00% 0.37% NA
Indica I  595 3.50% 74.50% 18.49% 3.53% NA
Indica II  465 19.80% 10.50% 2.80% 66.88% NA
Indica III  913 23.20% 48.50% 13.47% 14.79% NA
Indica Intermediate  786 18.60% 41.50% 10.43% 29.52% NA
Temperate Japonica  767 87.50% 7.80% 3.78% 0.91% NA
Tropical Japonica  504 98.20% 1.80% 0.00% 0.00% NA
Japonica Intermediate  241 95.40% 4.60% 0.00% 0.00% NA
VI/Aromatic  96 68.80% 27.10% 1.04% 3.12% NA
Intermediate  90 57.80% 25.60% 1.11% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0100617428 A -> G LOC_Os01g02120.1 downstream_gene_variant ; 1778.0bp to feature; MODIFIER silent_mutation Average:57.31; most accessible tissue: Callus, score: 97.558 N N N N
vg0100617428 A -> G LOC_Os01g02130.1 downstream_gene_variant ; 3144.0bp to feature; MODIFIER silent_mutation Average:57.31; most accessible tissue: Callus, score: 97.558 N N N N
vg0100617428 A -> G LOC_Os01g02120-LOC_Os01g02130 intergenic_region ; MODIFIER silent_mutation Average:57.31; most accessible tissue: Callus, score: 97.558 N N N N
vg0100617428 A -> DEL N N silent_mutation Average:57.31; most accessible tissue: Callus, score: 97.558 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)
vg0100617428 A G -0.21 -0.13 -0.12 -0.12 -0.15 -0.15

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0100617428 NA 7.87E-06 mr1042 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
vg0100617428 NA 1.76E-07 mr1269 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
vg0100617428 NA 1.36E-06 mr1269 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
vg0100617428 NA 2.40E-06 mr1479 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
vg0100617428 NA 4.11E-06 mr1479 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
vg0100617428 NA 2.16E-15 mr1535 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
vg0100617428 NA 3.36E-08 mr1662 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
vg0100617428 NA 1.79E-08 mr1677 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
vg0100617428 NA 7.87E-18 mr1726 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
vg0100617428 NA 1.57E-09 mr1726 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
vg0100617428 NA 1.95E-08 mr1975 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
vg0100617428 NA 2.33E-07 mr1975 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
vg0100617428 NA 1.04E-17 mr1995 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
vg0100617428 NA 4.87E-07 mr1479_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