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Detailed information for vg0918998633:

Variant ID: vg0918998633 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 18998633
Reference Allele: CAlternative Allele: A,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTACATAATTAATGTCTGGTCCCACCTATCATACACTCATGTATATTAGAGTCCGTGCTGCAGCTGGCTATAAATTTGTTGGCCGCTACTCTTATCTCTC[C/A,T]
TCTTTTACCTCCTTTATAGCCGGCTTATAGTTTGTTATTGTACCTGCTCTAAGCACTTGTTTAATCAGCAGACTGCTTTTCCCCCACCTTTCCGACGATG

Reverse complement sequence

CATCGTCGGAAAGGTGGGGGAAAAGCAGTCTGCTGATTAAACAAGTGCTTAGAGCAGGTACAATAACAAACTATAAGCCGGCTATAAAGGAGGTAAAAGA[G/T,A]
GAGAGATAAGAGTAGCGGCCAACAAATTTATAGCCAGCTGCAGCACGGACTCTAATATACATGAGTGTATGATAGGTGGGACCAGACATTAATTATGTAG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.50% 8.60% 0.66% 1.18% T: 0.02%
All Indica  2759 82.30% 14.50% 1.12% 1.99% T: 0.04%
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.70% 0.00% 0.34% 0.00% NA
Indica II  465 36.60% 51.80% 3.44% 8.17% NA
Indica III  913 94.40% 4.50% 0.66% 0.44% NA
Indica Intermediate  786 82.30% 15.00% 0.89% 1.65% T: 0.13%
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  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 5.60% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0918998633 C -> DEL N N silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> T LOC_Os09g31490.1 upstream_gene_variant ; 213.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> T LOC_Os09g31494.1 downstream_gene_variant ; 2909.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> T LOC_Os09g31498.1 downstream_gene_variant ; 4369.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> T LOC_Os09g31490-LOC_Os09g31494 intergenic_region ; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> A LOC_Os09g31490.1 upstream_gene_variant ; 213.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> A LOC_Os09g31494.1 downstream_gene_variant ; 2909.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> A LOC_Os09g31498.1 downstream_gene_variant ; 4369.0bp to feature; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 N N N N
vg0918998633 C -> A LOC_Os09g31490-LOC_Os09g31494 intergenic_region ; MODIFIER silent_mutation Average:69.365; most accessible tissue: Zhenshan97 flower, score: 84.598 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)
vg0918998633 C A -0.02 -0.03 -0.03 -0.02 -0.03 -0.03
vg0918998633 C T 0.02 0.0 0.0 0.0 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0918998633 NA 9.65E-06 mr1231 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
vg0918998633 NA 6.42E-06 mr1232 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
vg0918998633 7.62E-07 NA mr1557 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
vg0918998633 5.10E-07 4.17E-12 mr1557 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
vg0918998633 NA 1.34E-07 mr1598 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
vg0918998633 NA 2.17E-07 mr1944 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
vg0918998633 NA 3.47E-06 mr1720_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
vg0918998633 NA 5.83E-07 mr1931_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
vg0918998633 NA 2.97E-07 mr1931_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