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Detailed information for vg0105388283:

Variant ID: vg0105388283 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 5388283
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGAAAGAAAAGAATAAAGAAAAAGAAAAAAAATCAAAGGGTAAAACCGTATTTACACTGTTGTTTCTCTCTTCTTTTCCTCCAAAAATAATAAAATAATG[C/T]
TGCAGGTGTCCAGCAGCCAATTACCAGTTTTTTACGATGCCCTACAGCAAATACACGTTTTTACGGTGTCCTCTAACTAATTACACGTTTTTTGGATGTC

Reverse complement sequence

GACATCCAAAAAACGTGTAATTAGTTAGAGGACACCGTAAAAACGTGTATTTGCTGTAGGGCATCGTAAAAAACTGGTAATTGGCTGCTGGACACCTGCA[G/A]
CATTATTTTATTATTTTTGGAGGAAAAGAAGAGAGAAACAACAGTGTAAATACGGTTTTACCCTTTGATTTTTTTTCTTTTTCTTTATTCTTTTCTTTCT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.10% 1.50% 1.35% 43.08% NA
All Indica  2759 40.60% 2.10% 1.34% 56.00% NA
All Japonica  1512 74.50% 0.80% 1.52% 23.15% NA
Aus  269 66.50% 0.00% 1.12% 32.34% NA
Indica I  595 43.90% 2.90% 0.84% 52.44% NA
Indica II  465 40.90% 0.00% 1.08% 58.06% NA
Indica III  913 35.70% 3.60% 1.86% 58.82% NA
Indica Intermediate  786 43.60% 0.90% 1.27% 54.20% NA
Temperate Japonica  767 67.80% 1.60% 2.22% 28.42% NA
Tropical Japonica  504 83.90% 0.00% 0.60% 15.48% NA
Japonica Intermediate  241 76.30% 0.00% 1.24% 22.41% NA
VI/Aromatic  96 69.80% 0.00% 0.00% 30.21% NA
Intermediate  90 70.00% 1.10% 1.11% 27.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0105388283 C -> T LOC_Os01g10230.1 downstream_gene_variant ; 3195.0bp to feature; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> T LOC_Os01g10240.1 downstream_gene_variant ; 155.0bp to feature; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> T LOC_Os01g10250.1 downstream_gene_variant ; 1450.0bp to feature; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> T LOC_Os01g10250.2 downstream_gene_variant ; 1450.0bp to feature; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> T LOC_Os01g10250.3 downstream_gene_variant ; 1450.0bp to feature; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> T LOC_Os01g10240-LOC_Os01g10250 intergenic_region ; MODIFIER silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0105388283 C -> DEL N N silent_mutation Average:85.227; most accessible tissue: Minghui63 root, score: 90.899 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)
vg0105388283 C T -0.04 -0.04 -0.03 -0.04 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0105388283 2.97E-06 2.97E-06 mr1412 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