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Detailed information for vg0203470483:

Variant ID: vg0203470483 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 3470483
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATATTTCGTTGTTAGATTTTTTTTTTGTCAGGACGGACGGAAGGGAGTATGTTTGATGTGACCTTCTATTCCATCCCAGAAAAAAACAAATTTGAGCTAT[G/A]
AACCTGGACACACATATGTTAACCTATTGATCCAAACACATGTTTATCGTGGAGTGCCACAGCCTCCCTCGCGGCGCACGGACGCGGCCTCCTCGTGTCT

Reverse complement sequence

AGACACGAGGAGGCCGCGTCCGTGCGCCGCGAGGGAGGCTGTGGCACTCCACGATAAACATGTGTTTGGATCAATAGGTTAACATATGTGTGTCCAGGTT[C/T]
ATAGCTCAAATTTGTTTTTTTCTGGGATGGAATAGAAGGTCACATCAAACATACTCCCTTCCGTCCGTCCTGACAAAAAAAAAATCTAACAACGAAATAT

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 98.30% 1.10% 0.66% 0.00% NA
All Indica  2759 99.10% 0.40% 0.51% 0.00% NA
All Japonica  1512 96.40% 2.40% 1.12% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.50% 0.00% 0.50% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 97.60% 1.20% 1.20% 0.00% NA
Indica Intermediate  786 100.00% 0.00% 0.00% 0.00% NA
Temperate Japonica  767 99.00% 0.70% 0.39% 0.00% NA
Tropical Japonica  504 92.90% 4.80% 2.38% 0.00% NA
Japonica Intermediate  241 95.90% 3.30% 0.83% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 98.90% 1.10% 0.00% 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
vg0203470483 G -> A LOC_Os02g06890.1 upstream_gene_variant ; 51.0bp to feature; MODIFIER silent_mutation Average:94.632; most accessible tissue: Minghui63 young leaf, score: 96.742 N N N N
vg0203470483 G -> A LOC_Os02g06880.1 downstream_gene_variant ; 1404.0bp to feature; MODIFIER silent_mutation Average:94.632; most accessible tissue: Minghui63 young leaf, score: 96.742 N N N N
vg0203470483 G -> A LOC_Os02g06880-LOC_Os02g06890 intergenic_region ; MODIFIER silent_mutation Average:94.632; most accessible tissue: Minghui63 young leaf, score: 96.742 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)
vg0203470483 G A 0.02 0.08 0.09 0.03 0.04 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0203470483 NA 5.25E-07 mr1044 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
vg0203470483 4.82E-06 4.82E-06 mr1160 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
vg0203470483 5.89E-07 6.53E-08 mr1192 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
vg0203470483 NA 6.63E-06 mr1906 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
vg0203470483 NA 3.50E-06 mr1982 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
vg0203470483 1.98E-06 1.98E-06 mr1400_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
vg0203470483 1.22E-06 1.22E-06 mr1610_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