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Detailed information for vg0500775033:

Variant ID: vg0500775033 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 775033
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTGCTGACGTGGCGCCTATGTGGTGGTAATTATCGGGTCTCCTTTACACGTGATGTTGAGGTGGCATTTAGAATTTAAAAATATATGTGGGATCCATTT[G/A]
TCAGCGACACATAAAAAAAATTGTGGGACACGTCTCTCCCCTCCCTCTCCCTCCAGTTCCTTCTCTCTCCTCGCCAGTCGCCACTCCCTCTCTCTCTCTC

Reverse complement sequence

GAGAGAGAGAGAGGGAGTGGCGACTGGCGAGGAGAGAGAAGGAACTGGAGGGAGAGGGAGGGGAGAGACGTGTCCCACAATTTTTTTTATGTGTCGCTGA[C/T]
AAATGGATCCCACATATATTTTTAAATTCTAAATGCCACCTCAACATCACGTGTAAAGGAGACCCGATAATTACCACCACATAGGCGCCACGTCAGCAAA

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 78.70% 4.40% 7.77% 9.18% NA
All Indica  2759 75.20% 0.90% 8.74% 15.19% NA
All Japonica  1512 91.90% 0.50% 7.28% 0.33% NA
Aus  269 38.70% 60.60% 0.00% 0.74% NA
Indica I  595 81.50% 0.00% 2.69% 15.80% NA
Indica II  465 81.90% 0.00% 6.02% 12.04% NA
Indica III  913 63.00% 0.40% 16.43% 20.15% NA
Indica Intermediate  786 80.50% 2.70% 5.98% 10.81% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 79.20% 0.00% 20.44% 0.40% NA
Japonica Intermediate  241 93.40% 2.50% 2.90% 1.24% NA
VI/Aromatic  96 76.00% 9.40% 11.46% 3.12% NA
Intermediate  90 86.70% 2.20% 5.56% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0500775033 G -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500775033 G -> A LOC_Os05g02360.1 upstream_gene_variant ; 3573.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500775033 G -> A LOC_Os05g02370.1 upstream_gene_variant ; 1409.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500775033 G -> A LOC_Os05g02370-LOC_Os05g02390 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0500775033 G A -0.04 -0.05 -0.03 -0.05 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500775033 NA 1.26E-06 mr1184 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
vg0500775033 NA 3.37E-08 mr1262 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
vg0500775033 NA 8.49E-06 mr1289 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
vg0500775033 NA 3.70E-08 mr1365 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
vg0500775033 NA 4.89E-42 mr1550 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
vg0500775033 NA 4.81E-07 mr1556 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
vg0500775033 NA 2.37E-06 mr1574 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
vg0500775033 NA 5.36E-06 mr1621 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
vg0500775033 4.27E-07 NA mr1705 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
vg0500775033 NA 1.62E-06 mr1735 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
vg0500775033 NA 2.82E-06 mr1774 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
vg0500775033 NA 8.84E-12 mr1897 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