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Detailed information for vg0200487383:

Variant ID: vg0200487383 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 487383
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGAGCTGAGTCAAATGGTGACACAAGGCATATGGGATCGTGATTCTGTTCTTTTACAGCTTCCACATTTCACCAAGGAGTTGGCGCGGAGATGCCAGGA[G/A]
AATGAAGGGAGGCCCATTGAGAGCATCTTCGATCTGGCTGAGATGAGCATCGATGAGATGCGGGATCTGTTGCAGCTATCAAACCCTCAGCTACAGGATA

Reverse complement sequence

TATCCTGTAGCTGAGGGTTTGATAGCTGCAACAGATCCCGCATCTCATCGATGCTCATCTCAGCCAGATCGAAGATGCTCTCAATGGGCCTCCCTTCATT[C/T]
TCCTGGCATCTCCGCGCCAACTCCTTGGTGAAATGTGGAAGCTGTAAAAGAACAGAATCACGATCCCATATGCCTTGTGTCACCATTTGACTCAGCTCCA

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 89.30% 5.10% 1.44% 4.21% NA
All Indica  2759 92.20% 0.10% 0.72% 7.00% NA
All Japonica  1512 81.50% 15.10% 3.17% 0.20% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 94.50% 0.20% 0.67% 4.71% NA
Indica II  465 79.40% 0.20% 2.58% 17.85% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 89.10% 0.00% 0.51% 10.43% NA
Temperate Japonica  767 69.60% 24.30% 6.00% 0.13% NA
Tropical Japonica  504 99.60% 0.00% 0.20% 0.20% NA
Japonica Intermediate  241 81.70% 17.40% 0.41% 0.41% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 87.80% 10.00% 0.00% 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
vg0200487383 G -> A LOC_Os02g01880.1 synonymous_variant ; p.Glu94Glu; LOW synonymous_codon Average:61.515; most accessible tissue: Minghui63 panicle, score: 85.069 N N N N
vg0200487383 G -> DEL LOC_Os02g01880.1 N frameshift_variant Average:61.515; most accessible tissue: Minghui63 panicle, score: 85.069 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)
vg0200487383 G A 0.01 0.02 0.02 0.02 0.03 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0200487383 1.16E-06 NA mr1013_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