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Detailed information for vg0904506888:

Variant ID: vg0904506888 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 4506888
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGGGGAGTGGATTCTAATCCCTCGAAGGGATATCCCTCTAATCCCTCGAGGGGATATCCCTCGTATACCTTTTTCTTCCAAATTCGATGCAAATAGTTGT[G/A]
AAAAATTCTGAAAAAAATTGATAATATAGAGTATAATGATACCTACTAGTCCACCAAAATTCATATTCAAATTCGATCTACACATCGAGAAACAAAAAGA

Reverse complement sequence

TCTTTTTGTTTCTCGATGTGTAGATCGAATTTGAATATGAATTTTGGTGGACTAGTAGGTATCATTATACTCTATATTATCAATTTTTTTCAGAATTTTT[C/T]
ACAACTATTTGCATCGAATTTGGAAGAAAAAGGTATACGAGGGATATCCCCTCGAGGGATTAGAGGGATATCCCTTCGAGGGATTAGAATCCACTCCCCC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.10% 6.70% 18.87% 2.29% NA
All Indica  2759 61.40% 4.60% 30.23% 3.84% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 12.30% 69.90% 17.84% 0.00% NA
Indica I  595 90.30% 0.00% 9.41% 0.34% NA
Indica II  465 53.50% 6.70% 33.98% 5.81% NA
Indica III  913 46.20% 2.20% 45.35% 6.24% NA
Indica Intermediate  786 61.70% 9.50% 26.21% 2.54% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 1.00% 1.04% 0.00% NA
Intermediate  90 86.70% 1.10% 10.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0904506888 G -> DEL N N silent_mutation Average:87.099; most accessible tissue: Minghui63 panicle, score: 96.585 N N N N
vg0904506888 G -> A LOC_Os09g08620.1 upstream_gene_variant ; 82.0bp to feature; MODIFIER silent_mutation Average:87.099; most accessible tissue: Minghui63 panicle, score: 96.585 N N N N
vg0904506888 G -> A LOC_Os09g08620-LOC_Os09g08630 intergenic_region ; MODIFIER silent_mutation Average:87.099; most accessible tissue: Minghui63 panicle, score: 96.585 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)
vg0904506888 G A 0.03 0.02 0.02 0.02 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0904506888 8.64E-06 NA mr1565_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
vg0904506888 NA 6.84E-06 mr1729_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
vg0904506888 NA 8.09E-06 mr1736_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
vg0904506888 NA 5.86E-10 mr1741_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
vg0904506888 NA 3.68E-10 mr1860_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
vg0904506888 NA 1.02E-17 mr1874_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
vg0904506888 NA 2.02E-06 mr1915_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
vg0904506888 3.52E-06 NA mr1940_2 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