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Detailed information for vg0416174940:

Variant ID: vg0416174940 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 16174940
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCTGTCAGTTTTCAGCACAGCACCACCGGGTTCGCCTCCTGGTATTTCAGCAATCAACCTGCTAAGCCAAATTCCTTGTCATGCTGTTGTAGTAGCCGCA[A/G]
TGTACTCGGCCTCACACGAAGATAAGGCTTTAACATTTGCTAACTAAGCAAACTCCCTACCATCGTAAAGAGCACTCCAGTTGTGCTTTTTCCTGTTATC

Reverse complement sequence

GATAACAGGAAAAAGCACAACTGGAGTGCTCTTTACGATGGTAGGGAGTTTGCTTAGTTAGCAAATGTTAAAGCCTTATCTTCGTGTGAGGCCGAGTACA[T/C]
TGCGGCTACTACAACAGCATGACAAGGAATTTGGCTTAGCAGGTTGATTGCTGAAATACCAGGAGGCGAACCCGGTGGTGCTGTGCTGAAAACTGACAGC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 76.10% 23.60% 0.28% 0.00% NA
All Indica  2759 74.90% 24.90% 0.22% 0.00% NA
All Japonica  1512 90.30% 9.70% 0.00% 0.00% NA
Aus  269 3.70% 94.40% 1.86% 0.00% NA
Indica I  595 89.20% 10.40% 0.34% 0.00% NA
Indica II  465 79.60% 19.80% 0.65% 0.00% NA
Indica III  913 59.70% 40.30% 0.00% 0.00% NA
Indica Intermediate  786 78.90% 21.00% 0.13% 0.00% NA
Temperate Japonica  767 99.20% 0.80% 0.00% 0.00% NA
Tropical Japonica  504 73.40% 26.60% 0.00% 0.00% NA
Japonica Intermediate  241 97.10% 2.90% 0.00% 0.00% NA
VI/Aromatic  96 82.30% 15.60% 2.08% 0.00% NA
Intermediate  90 84.40% 15.60% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0416174940 A -> G LOC_Os04g27370.1 downstream_gene_variant ; 1322.0bp to feature; MODIFIER silent_mutation Average:76.228; most accessible tissue: Callus, score: 89.739 N N N N
vg0416174940 A -> G LOC_Os04g27380.1 downstream_gene_variant ; 2897.0bp to feature; MODIFIER silent_mutation Average:76.228; most accessible tissue: Callus, score: 89.739 N N N N
vg0416174940 A -> G LOC_Os04g27370-LOC_Os04g27380 intergenic_region ; MODIFIER silent_mutation Average:76.228; most accessible tissue: Callus, score: 89.739 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)
vg0416174940 A G 0.07 0.04 0.03 0.05 0.07 0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0416174940 NA 6.87E-06 mr1349 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
vg0416174940 3.59E-06 9.48E-06 mr1925 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
vg0416174940 2.10E-06 2.10E-06 mr1730_2 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
vg0416174940 NA 9.30E-06 mr1866_2 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
vg0416174940 1.91E-06 1.91E-06 mr1912_2 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