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Detailed information for vg0715448729:

Variant ID: vg0715448729 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 15448729
Reference Allele: TGGCGTAAAATTAAlternative Allele: T
Primary Allele: TGGCGTAAAATTASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAACCACCTTCAAAACCGCCGAGAGATCTCATTTGCACCGTTTTTGATAATTTAGGGACCGGTTATATCTGGTTTTGGGGTTAAGGATGAAAATCGGATT[TGGCGTAAAATTA/T]
AGGGACCTAAGATGAACTTATTCCTTCTTTTTTCTTCTCTCTTTCGAGCCAATCATTTGGGCCGACCGTTCGGCCCATAGGTTACAAACAGGCCGGCCCG

Reverse complement sequence

CGGGCCGGCCTGTTTGTAACCTATGGGCCGAACGGTCGGCCCAAATGATTGGCTCGAAAGAGAGAAGAAAAAAGAAGGAATAAGTTCATCTTAGGTCCCT[TAATTTTACGCCA/A]
AATCCGATTTTCATCCTTAACCCCAAAACCAGATATAACCGGTCCCTAAATTATCAAAAACGGTGCAAATGAGATCTCTCGGCGGTTTTGAAGGTGGTTT

Allele Frequencies:

Populations Population SizeFrequency of TGGCGTAAAATTA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.40% 2.00% 1.50% 22.05% NA
All Indica  2759 89.00% 3.40% 1.99% 5.58% NA
All Japonica  1512 43.30% 0.10% 0.66% 55.95% NA
Aus  269 93.30% 0.00% 0.74% 5.95% NA
Indica I  595 86.60% 9.20% 2.18% 2.02% NA
Indica II  465 84.30% 0.00% 5.16% 10.54% NA
Indica III  913 93.30% 1.10% 0.55% 5.04% NA
Indica Intermediate  786 88.50% 3.80% 1.65% 5.98% NA
Temperate Japonica  767 71.60% 0.00% 0.26% 28.16% NA
Tropical Japonica  504 7.50% 0.00% 1.39% 91.07% NA
Japonica Intermediate  241 28.20% 0.40% 0.41% 70.95% NA
VI/Aromatic  96 87.50% 0.00% 0.00% 12.50% NA
Intermediate  90 80.00% 0.00% 4.44% 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
vg0715448729 TGGCGTAAAATTA -> DEL N N silent_mutation Average:72.442; most accessible tissue: Callus, score: 98.813 N N N N
vg0715448729 TGGCGTAAAATTA -> T LOC_Os07g26730.1 upstream_gene_variant ; 1984.0bp to feature; MODIFIER silent_mutation Average:72.442; most accessible tissue: Callus, score: 98.813 N N N N
vg0715448729 TGGCGTAAAATTA -> T LOC_Os07g26740.1 upstream_gene_variant ; 229.0bp to feature; MODIFIER silent_mutation Average:72.442; most accessible tissue: Callus, score: 98.813 N N N N
vg0715448729 TGGCGTAAAATTA -> T LOC_Os07g26750.1 downstream_gene_variant ; 3220.0bp to feature; MODIFIER silent_mutation Average:72.442; most accessible tissue: Callus, score: 98.813 N N N N
vg0715448729 TGGCGTAAAATTA -> T LOC_Os07g26730-LOC_Os07g26740 intergenic_region ; MODIFIER silent_mutation Average:72.442; most accessible tissue: Callus, score: 98.813 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)
vg0715448729 TGGCG* T -0.03 -0.13 -0.15 -0.06 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0715448729 NA 3.67E-07 mr1410 Ind_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
vg0715448729 1.38E-06 9.03E-08 mr1518 Ind_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
vg0715448729 NA 1.84E-06 mr1730_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