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Detailed information for vg0409367144:

Variant ID: vg0409367144 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 9367144
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 295. )

Flanking Sequence (100 bp) in Reference Genome:


CTGCCGAAACCACCAGATTAGCAAAGCGCCGACTAAAATCACAAGGGGTCGCTTGGAGGTGAAGCCATAGGATGAAGCTGTAAGGCGAAGTCGAAGAATG[G/A]
AAGCCATAAGGTTCGTCATCAAGTCTCTCTGTTGGGTGAAGCCATGGCGCGAAGCAGAAGGGGTTCGCCCAATGGGGCTCGTCTTCAACAAAAGGGCTAG

Reverse complement sequence

CTAGCCCTTTTGTTGAAGACGAGCCCCATTGGGCGAACCCCTTCTGCTTCGCGCCATGGCTTCACCCAACAGAGAGACTTGATGACGAACCTTATGGCTT[C/T]
CATTCTTCGACTTCGCCTTACAGCTTCATCCTATGGCTTCACCTCCAAGCGACCCCTTGTGATTTTAGTCGGCGCTTTGCTAATCTGGTGGTTTCGGCAG

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 89.40% 8.10% 2.48% 0.00% NA
All Indica  2759 86.70% 9.80% 3.44% 0.00% NA
All Japonica  1512 99.80% 0.10% 0.07% 0.00% NA
Aus  269 55.80% 37.50% 6.69% 0.00% NA
Indica I  595 96.10% 0.80% 3.03% 0.00% NA
Indica II  465 63.40% 29.00% 7.53% 0.00% NA
Indica III  913 94.20% 5.10% 0.66% 0.00% NA
Indica Intermediate  786 84.70% 10.70% 4.58% 0.00% NA
Temperate Japonica  767 99.90% 0.00% 0.13% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 96.90% 2.10% 1.04% 0.00% NA
Intermediate  90 87.80% 10.00% 2.22% 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
vg0409367144 G -> A LOC_Os04g17090.1 upstream_gene_variant ; 648.0bp to feature; MODIFIER silent_mutation Average:94.317; most accessible tissue: Zhenshan97 flag leaf, score: 98.486 N N N N
vg0409367144 G -> A LOC_Os04g17080.1 downstream_gene_variant ; 4939.0bp to feature; MODIFIER silent_mutation Average:94.317; most accessible tissue: Zhenshan97 flag leaf, score: 98.486 N N N N
vg0409367144 G -> A LOC_Os04g17100.1 downstream_gene_variant ; 791.0bp to feature; MODIFIER silent_mutation Average:94.317; most accessible tissue: Zhenshan97 flag leaf, score: 98.486 N N N N
vg0409367144 G -> A LOC_Os04g17100.2 downstream_gene_variant ; 791.0bp to feature; MODIFIER silent_mutation Average:94.317; most accessible tissue: Zhenshan97 flag leaf, score: 98.486 N N N N
vg0409367144 G -> A LOC_Os04g17090-LOC_Os04g17100 intergenic_region ; MODIFIER silent_mutation Average:94.317; most accessible tissue: Zhenshan97 flag leaf, score: 98.486 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)
vg0409367144 G A 0.02 0.0 0.0 0.01 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0409367144 NA 4.78E-14 mr1062 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
vg0409367144 1.03E-06 2.87E-11 mr1062 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
vg0409367144 5.62E-07 7.03E-16 mr1062_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
vg0409367144 NA 3.70E-08 mr1077_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
vg0409367144 NA 3.14E-07 mr1830_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
vg0409367144 NA 8.55E-08 mr1846_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