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Detailed information for vg0509256609:

Variant ID: vg0509256609 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 9256609
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATCATCGTCTCCGTGTGTGTCGTCGTCGTTGTGTCGTAGCTGCTTGCCGTGCCGCTGCTGCGCGTGTGCCGGCTGAGCCGCTTAGCTGCAGCTGCTTGC[C/A]
GCTTTGCCACAGCCGCAGCCGTGCCGGTTGCGTTTTTGCTCGCAGCCCTGCTGCTCTAGCCGTGCATGGTCGCTACTGGCTGTGCCGTCACCCTAACCCT

Reverse complement sequence

AGGGTTAGGGTGACGGCACAGCCAGTAGCGACCATGCACGGCTAGAGCAGCAGGGCTGCGAGCAAAAACGCAACCGGCACGGCTGCGGCTGTGGCAAAGC[G/T]
GCAAGCAGCTGCAGCTAAGCGGCTCAGCCGGCACACGCGCAGCAGCGGCACGGCAAGCAGCTACGACACAACGACGACGACACACACGGAGACGATGATG

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 91.80% 0.10% 5.71% 2.39% NA
All Indica  2759 94.90% 0.00% 4.49% 0.54% NA
All Japonica  1512 85.40% 0.20% 9.19% 5.22% NA
Aus  269 92.90% 0.70% 0.37% 5.95% NA
Indica I  595 85.50% 0.00% 14.29% 0.17% NA
Indica II  465 97.60% 0.20% 1.29% 0.86% NA
Indica III  913 99.70% 0.00% 0.11% 0.22% NA
Indica Intermediate  786 94.90% 0.00% 4.07% 1.02% NA
Temperate Japonica  767 76.30% 0.40% 13.82% 9.52% NA
Tropical Japonica  504 97.20% 0.00% 2.58% 0.20% NA
Japonica Intermediate  241 89.60% 0.00% 8.30% 2.07% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 90.00% 0.00% 6.67% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0509256609 C -> DEL N N silent_mutation Average:79.553; most accessible tissue: Zhenshan97 flag leaf, score: 93.448 N N N N
vg0509256609 C -> A LOC_Os05g16350.1 upstream_gene_variant ; 4026.0bp to feature; MODIFIER silent_mutation Average:79.553; most accessible tissue: Zhenshan97 flag leaf, score: 93.448 N N N N
vg0509256609 C -> A LOC_Os05g16330.1 downstream_gene_variant ; 4949.0bp to feature; MODIFIER silent_mutation Average:79.553; most accessible tissue: Zhenshan97 flag leaf, score: 93.448 N N N N
vg0509256609 C -> A LOC_Os05g16340.1 downstream_gene_variant ; 2009.0bp to feature; MODIFIER silent_mutation Average:79.553; most accessible tissue: Zhenshan97 flag leaf, score: 93.448 N N N N
vg0509256609 C -> A LOC_Os05g16340-LOC_Os05g16350 intergenic_region ; MODIFIER silent_mutation Average:79.553; most accessible tissue: Zhenshan97 flag leaf, score: 93.448 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)
vg0509256609 C A 0.01 0.0 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
vg0509256609 NA 5.41E-06 mr1071_2 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
vg0509256609 3.29E-06 3.66E-06 mr1203_2 Jap_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
vg0509256609 1.36E-07 2.82E-06 mr1613_2 Jap_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
vg0509256609 NA 3.89E-06 mr1619_2 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
vg0509256609 5.19E-06 5.77E-06 mr1913_2 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