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Detailed information for vg0233248704:

Variant ID: vg0233248704 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 33248704
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCTAAACCCCGAGGAAAGCCCCCTCTTCCCCCTCACCCAACCCCCCTCCTACCCTCATCCCAACCCCAAACCCTAACCCGTCAGAGTTGGGGTGTCGCCG[G/A]
CGCCGGAGAAGAAGGGGAGCCCGCCGGAGTTGAAGGAGAGAAGCCGATGCACGAACCTTGGCATGGATCCAATGGTTCAAAATCTGTAAGATTTCTTCCC

Reverse complement sequence

GGGAAGAAATCTTACAGATTTTGAACCATTGGATCCATGCCAAGGTTCGTGCATCGGCTTCTCTCCTTCAACTCCGGCGGGCTCCCCTTCTTCTCCGGCG[C/T]
CGGCGACACCCCAACTCTGACGGGTTAGGGTTTGGGGTTGGGATGAGGGTAGGAGGGGGGTTGGGTGAGGGGGAAGAGGGGGCTTTCCTCGGGGTTTAGA

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 62.70% 37.20% 0.11% 0.00% NA
All Indica  2759 97.70% 2.30% 0.04% 0.00% NA
All Japonica  1512 1.10% 98.90% 0.00% 0.00% NA
Aus  269 77.30% 22.70% 0.00% 0.00% NA
Indica I  595 99.50% 0.50% 0.00% 0.00% NA
Indica II  465 97.40% 2.60% 0.00% 0.00% NA
Indica III  913 98.80% 1.20% 0.00% 0.00% NA
Indica Intermediate  786 95.20% 4.70% 0.13% 0.00% NA
Temperate Japonica  767 0.90% 99.10% 0.00% 0.00% NA
Tropical Japonica  504 0.60% 99.40% 0.00% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 10.40% 89.60% 0.00% 0.00% NA
Intermediate  90 36.70% 58.90% 4.44% 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
vg0233248704 G -> A LOC_Os02g54220.1 upstream_gene_variant ; 4345.0bp to feature; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 N N N N
vg0233248704 G -> A LOC_Os02g54230.1 upstream_gene_variant ; 1681.0bp to feature; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 N N N N
vg0233248704 G -> A LOC_Os02g54240.1 upstream_gene_variant ; 1097.0bp to feature; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 N N N N
vg0233248704 G -> A LOC_Os02g54254.1 downstream_gene_variant ; 4383.0bp to feature; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 N N N N
vg0233248704 G -> A LOC_Os02g54254.2 downstream_gene_variant ; 4383.0bp to feature; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 N N N N
vg0233248704 G -> A LOC_Os02g54230-LOC_Os02g54240 intergenic_region ; MODIFIER silent_mutation Average:71.25; most accessible tissue: Minghui63 young leaf, score: 85.028 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)
vg0233248704 G A -0.02 -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
vg0233248704 NA 1.01E-19 mr1021 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
vg0233248704 NA 1.97E-15 mr1324 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
vg0233248704 NA 7.06E-11 mr1325 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
vg0233248704 NA 2.28E-13 mr1335 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
vg0233248704 NA 3.88E-09 mr1336 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
vg0233248704 3.22E-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
vg0233248704 NA 1.26E-22 mr1888 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
vg0233248704 NA 7.51E-27 mr1323_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
vg0233248704 NA 5.86E-16 mr1324_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
vg0233248704 NA 1.90E-12 mr1325_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
vg0233248704 NA 5.30E-15 mr1333_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
vg0233248704 NA 6.16E-08 mr1335_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