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Detailed information for vg0429156078:

Variant ID: vg0429156078 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 29156078
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.90, A: 0.09, others allele: 0.00, population size: 195. )

Flanking Sequence (100 bp) in Reference Genome:


TAGTATTTGTACCGTTTCATAAGGCTATTTACAATGCTCATAGGTGACGTTCAGCCTCAACCATCTACGTCGAAAATTCGGCGCCATGTACATATCTGCC[A/G]
TTCCCAACTGAAGATCACGGAGCCTAAACGAAGCAACCCGTTCTTCGTCAGAACTGGCAAGCGTGGGGCAAGACGCGGGGCGCATTGAGAGGGGGCATGG

Reverse complement sequence

CCATGCCCCCTCTCAATGCGCCCCGCGTCTTGCCCCACGCTTGCCAGTTCTGACGAAGAACGGGTTGCTTCGTTTAGGCTCCGTGATCTTCAGTTGGGAA[T/C]
GGCAGATATGTACATGGCGCCGAATTTTCGACGTAGATGGTTGAGGCTGAACGTCACCTATGAGCATTGTAAATAGCCTTATGAAACGGTACAAATACTA

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 67.30% 32.30% 0.02% 0.38% NA
All Indica  2759 85.40% 14.00% 0.04% 0.54% NA
All Japonica  1512 31.70% 68.30% 0.00% 0.00% NA
Aus  269 72.90% 27.10% 0.00% 0.00% NA
Indica I  595 99.30% 0.20% 0.00% 0.50% NA
Indica II  465 97.80% 1.90% 0.00% 0.22% NA
Indica III  913 67.90% 31.50% 0.00% 0.55% NA
Indica Intermediate  786 87.90% 11.20% 0.13% 0.76% NA
Temperate Japonica  767 15.90% 84.10% 0.00% 0.00% NA
Tropical Japonica  504 39.30% 60.70% 0.00% 0.00% NA
Japonica Intermediate  241 66.00% 34.00% 0.00% 0.00% NA
VI/Aromatic  96 88.50% 11.50% 0.00% 0.00% NA
Intermediate  90 68.90% 27.80% 0.00% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0429156078 A -> DEL N N silent_mutation Average:90.631; most accessible tissue: Minghui63 flag leaf, score: 98.68 N N N N
vg0429156078 A -> G LOC_Os04g48880.1 upstream_gene_variant ; 1135.0bp to feature; MODIFIER silent_mutation Average:90.631; most accessible tissue: Minghui63 flag leaf, score: 98.68 N N N N
vg0429156078 A -> G LOC_Os04g48870.1 downstream_gene_variant ; 2118.0bp to feature; MODIFIER silent_mutation Average:90.631; most accessible tissue: Minghui63 flag leaf, score: 98.68 N N N N
vg0429156078 A -> G LOC_Os04g48890.1 downstream_gene_variant ; 4803.0bp to feature; MODIFIER silent_mutation Average:90.631; most accessible tissue: Minghui63 flag leaf, score: 98.68 N N N N
vg0429156078 A -> G LOC_Os04g48870-LOC_Os04g48880 intergenic_region ; MODIFIER silent_mutation Average:90.631; most accessible tissue: Minghui63 flag leaf, score: 98.68 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)
vg0429156078 A G 0.07 0.03 0.04 0.03 0.06 0.1

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0429156078 NA 2.92E-07 mr1280 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
vg0429156078 NA 3.88E-06 mr1729 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
vg0429156078 NA 6.06E-06 mr1788 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
vg0429156078 NA 2.63E-06 mr1973 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
vg0429156078 NA 3.58E-06 mr1053_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
vg0429156078 NA 1.32E-06 mr1164_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
vg0429156078 NA 6.48E-08 mr1318_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
vg0429156078 NA 1.47E-09 mr1379_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
vg0429156078 NA 2.05E-08 mr1521_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
vg0429156078 NA 2.25E-06 mr1531_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
vg0429156078 NA 4.89E-07 mr1559_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
vg0429156078 NA 6.03E-07 mr1727_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
vg0429156078 NA 1.56E-06 mr1729_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
vg0429156078 5.55E-06 2.61E-11 mr1788_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