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Detailed information for vg0729493667:

Variant ID: vg0729493667 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 29493667
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGAAACATGTCCAAATGCCCCATCTATTGTGTTATTGTGCATGTACTCCCTCCATACTCATAAAAGAAGTCGTTTAGGACAATGTTTAAGTCAAACATTG[A/G]
GAATATAAATCATGAATAACTCTCAAGTTGTCGAGTTTAAAAATGTAAAAGTTATATGTATAGATTTGTCTTGAAAAATACTTCCATACAAGTATACATA

Reverse complement sequence

TATGTATACTTGTATGGAAGTATTTTTCAAGACAAATCTATACATATAACTTTTACATTTTTAAACTCGACAACTTGAGAGTTATTCATGATTTATATTC[T/C]
CAATGTTTGACTTAAACATTGTCCTAAACGACTTCTTTTATGAGTATGGAGGGAGTACATGCACAATAACACAATAGATGGGGCATTTGGACATGTTTCC

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 80.00% 19.70% 0.25% 0.00% NA
All Indica  2759 78.60% 21.10% 0.33% 0.00% NA
All Japonica  1512 78.00% 22.00% 0.07% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 94.50% 5.50% 0.00% 0.00% NA
Indica II  465 89.70% 9.70% 0.65% 0.00% NA
Indica III  913 64.00% 35.70% 0.33% 0.00% NA
Indica Intermediate  786 77.00% 22.60% 0.38% 0.00% NA
Temperate Japonica  767 93.90% 6.00% 0.13% 0.00% NA
Tropical Japonica  504 49.40% 50.60% 0.00% 0.00% NA
Japonica Intermediate  241 87.10% 12.90% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 80.00% 17.80% 2.22% 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
vg0729493667 A -> G LOC_Os07g49260.1 upstream_gene_variant ; 2247.0bp to feature; MODIFIER silent_mutation Average:86.219; most accessible tissue: Zhenshan97 flag leaf, score: 92.274 N N N N
vg0729493667 A -> G LOC_Os07g49250.1 downstream_gene_variant ; 1494.0bp to feature; MODIFIER silent_mutation Average:86.219; most accessible tissue: Zhenshan97 flag leaf, score: 92.274 N N N N
vg0729493667 A -> G LOC_Os07g49250-LOC_Os07g49260 intergenic_region ; MODIFIER silent_mutation Average:86.219; most accessible tissue: Zhenshan97 flag leaf, score: 92.274 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)
vg0729493667 A G -0.01 -0.02 -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
vg0729493667 NA 2.36E-06 mr1038 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
vg0729493667 NA 6.25E-06 mr1063 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
vg0729493667 2.26E-06 2.26E-06 mr1159 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
vg0729493667 NA 7.58E-07 mr1352 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
vg0729493667 NA 4.81E-06 mr1428 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
vg0729493667 NA 3.71E-07 mr1906 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
vg0729493667 NA 2.36E-06 mr1960 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
vg0729493667 NA 1.42E-07 mr1063_2 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