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Detailed information for vg0411398819:

Variant ID: vg0411398819 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 11398819
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTCTCTCGCTCTCGAGCTCTCTGGCTCTGGAGCTCTCTGTTTACCTTCACACACAGATCCACCAGAACACAGGAGTAGGGTATTACGCTTCTCAGCGGCC[C/T]
GAACCTGTCTACGTCGCCCGTGTCTTGTGCGTTTCTTCTCGCTGACATTCCTCAGATCGAGGGCGAAGAACCTCACTTAGCGCCCCCGGCCGAACCGGCA

Reverse complement sequence

TGCCGGTTCGGCCGGGGGCGCTAAGTGAGGTTCTTCGCCCTCGATCTGAGGAATGTCAGCGAGAAGAAACGCACAAGACACGGGCGACGTAGACAGGTTC[G/A]
GGCCGCTGAGAAGCGTAATACCCTACTCCTGTGTTCTGGTGGATCTGTGTGTGAAGGTAAACAGAGAGCTCCAGAGCCAGAGAGCTCGAGAGCGAGAGAG

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 59.70% 0.20% 0.34% 39.78% NA
All Indica  2759 35.60% 0.30% 0.47% 63.61% NA
All Japonica  1512 99.40% 0.00% 0.00% 0.60% NA
Aus  269 63.60% 0.00% 1.12% 35.32% NA
Indica I  595 35.50% 0.30% 0.50% 63.70% NA
Indica II  465 38.70% 0.20% 0.43% 60.65% NA
Indica III  913 35.30% 0.30% 0.22% 64.18% NA
Indica Intermediate  786 34.20% 0.40% 0.76% 64.63% NA
Temperate Japonica  767 99.70% 0.00% 0.00% 0.26% NA
Tropical Japonica  504 99.20% 0.00% 0.00% 0.79% NA
Japonica Intermediate  241 98.80% 0.00% 0.00% 1.24% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 77.80% 0.00% 0.00% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0411398819 C -> DEL N N silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 N N N N
vg0411398819 C -> T LOC_Os04g20360.1 upstream_gene_variant ; 1102.0bp to feature; MODIFIER silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 N N N N
vg0411398819 C -> T LOC_Os04g20380.1 upstream_gene_variant ; 3836.0bp to feature; MODIFIER silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 N N N N
vg0411398819 C -> T LOC_Os04g20370.1 downstream_gene_variant ; 146.0bp to feature; MODIFIER silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 N N N N
vg0411398819 C -> T LOC_Os04g20390.1 downstream_gene_variant ; 4665.0bp to feature; MODIFIER silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 N N N N
vg0411398819 C -> T LOC_Os04g20360-LOC_Os04g20370 intergenic_region ; MODIFIER silent_mutation Average:59.423; most accessible tissue: Minghui63 young leaf, score: 79.549 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)
vg0411398819 C T 0.0 0.0 0.0 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0411398819 NA 4.89E-07 mr1166 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
vg0411398819 NA 1.35E-08 mr1515 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