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Detailed information for vg0114587058:

Variant ID: vg0114587058 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 14587058
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGATGCGCGCAATCCGTGCGGGCCACCATGCTAGTTTTATTTAAAATAGGAACAAAATGATTCATCCAAATATTGTCAACATAATCGCAGATACAGATT[A/C]
ATGAATTTGTGGACTTAGAAATACCTAGCTCCTAAAAACCTTCGATAGTTGTGCCAAACAAGACTTTAGTAAGCTTTAAGAATGGGACACTCCCATTAAG

Reverse complement sequence

CTTAATGGGAGTGTCCCATTCTTAAAGCTTACTAAAGTCTTGTTTGGCACAACTATCGAAGGTTTTTAGGAGCTAGGTATTTCTAAGTCCACAAATTCAT[T/G]
AATCTGTATCTGCGATTATGTTGACAATATTTGGATGAATCATTTTGTTCCTATTTTAAATAAAACTAGCATGGTGGCCCGCACGGATTGCGCGCATCAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.90% 13.20% 1.59% 21.29% NA
All Indica  2759 62.90% 0.50% 0.72% 35.88% NA
All Japonica  1512 57.10% 39.20% 3.57% 0.13% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 47.70% 0.30% 0.84% 51.09% NA
Indica II  465 68.00% 1.10% 0.65% 30.32% NA
Indica III  913 69.00% 0.10% 0.55% 30.34% NA
Indica Intermediate  786 64.20% 0.80% 0.89% 34.10% NA
Temperate Japonica  767 24.90% 69.00% 6.13% 0.00% NA
Tropical Japonica  504 99.00% 0.60% 0.20% 0.20% NA
Japonica Intermediate  241 71.80% 25.30% 2.49% 0.41% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 66.70% 16.70% 1.11% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0114587058 A -> DEL N N silent_mutation Average:59.369; most accessible tissue: Zhenshan97 young leaf, score: 71.923 N N N N
vg0114587058 A -> C LOC_Os01g25740.1 3_prime_UTR_variant ; 491.0bp to feature; MODIFIER silent_mutation Average:59.369; most accessible tissue: Zhenshan97 young leaf, score: 71.923 N N N N
vg0114587058 A -> C LOC_Os01g25730.1 downstream_gene_variant ; 3680.0bp to feature; MODIFIER silent_mutation Average:59.369; most accessible tissue: Zhenshan97 young leaf, score: 71.923 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)
vg0114587058 A C -0.04 -0.03 -0.02 -0.02 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0114587058 NA 2.94E-06 mr1582_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