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Detailed information for vg0419906492:

Variant ID: vg0419906492 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 19906492
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.82, A: 0.18, others allele: 0.00, population size: 105. )

Flanking Sequence (100 bp) in Reference Genome:


ACACGAAAAGCTTTTTTTTTAAAAAAAAAACATCATGTGAACCCACGGGGCCTCGCTTGGCTATTGGCTATATATTAAGTTCGGGCCTGTTTACTTTGAT[A/G]
CCATTTTCAATCTTACCAAATTTTGGTAAAGTTGCTAAAAAAATAGCTATATTTAGTTTGCTACTAAATTAAAGTGTACATGCCCTTTATTTTGGCCCAG

Reverse complement sequence

CTGGGCCAAAATAAAGGGCATGTACACTTTAATTTAGTAGCAAACTAAATATAGCTATTTTTTTAGCAACTTTACCAAAATTTGGTAAGATTGAAAATGG[T/C]
ATCAAAGTAAACAGGCCCGAACTTAATATATAGCCAATAGCCAAGCGAGGCCCCGTGGGTTCACATGATGTTTTTTTTTTAAAAAAAAAGCTTTTCGTGT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.90% 38.70% 0.44% 0.00% NA
All Indica  2759 80.20% 19.20% 0.58% 0.00% NA
All Japonica  1512 22.20% 77.60% 0.20% 0.00% NA
Aus  269 92.90% 6.70% 0.37% 0.00% NA
Indica I  595 95.10% 4.50% 0.34% 0.00% NA
Indica II  465 82.80% 16.80% 0.43% 0.00% NA
Indica III  913 67.60% 31.70% 0.77% 0.00% NA
Indica Intermediate  786 82.10% 17.30% 0.64% 0.00% NA
Temperate Japonica  767 18.30% 81.60% 0.13% 0.00% NA
Tropical Japonica  504 35.30% 64.30% 0.40% 0.00% NA
Japonica Intermediate  241 7.10% 92.90% 0.00% 0.00% NA
VI/Aromatic  96 44.80% 55.20% 0.00% 0.00% NA
Intermediate  90 40.00% 58.90% 1.11% 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
vg0419906492 A -> G LOC_Os04g32940.1 upstream_gene_variant ; 2835.0bp to feature; MODIFIER silent_mutation Average:74.432; most accessible tissue: Callus, score: 89.057 N N N N
vg0419906492 A -> G LOC_Os04g32940-LOC_Os04g32950 intergenic_region ; MODIFIER silent_mutation Average:74.432; most accessible tissue: Callus, score: 89.057 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)
vg0419906492 A G -0.02 -0.02 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0419906492 1.24E-06 1.24E-06 mr1076_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
vg0419906492 8.46E-06 4.41E-07 mr1082_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
vg0419906492 NA 1.84E-07 mr1083_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
vg0419906492 NA 5.95E-06 mr1085_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
vg0419906492 1.57E-06 NA mr1107_2 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
vg0419906492 6.39E-07 2.83E-07 mr1107_2 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
vg0419906492 7.18E-07 7.18E-07 mr1145_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
vg0419906492 NA 4.78E-07 mr1226_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
vg0419906492 9.18E-07 2.76E-09 mr1408_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
vg0419906492 NA 6.35E-07 mr1619_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
vg0419906492 NA 9.95E-06 mr1949_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