Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0527656990:

Variant ID: vg0527656990 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 27656990
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCCACCTTAGCCAAAAACTAAATTGTTTATTCCTATCGTCGGCTGACATAAGCCTATTGAACCTGCTCTAAGGGACAACCTTCACACAAATTTCAATAAA[G/A]
AAGAGAAAATAAGATGGCTGATTGGTGGCAAGTGTATTGGGACTAGTGTATTAAATACAATGCATCTACATAAGTTAATTTTAATTTTTGGATAGATGAT

Reverse complement sequence

ATCATCTATCCAAAAATTAAAATTAACTTATGTAGATGCATTGTATTTAATACACTAGTCCCAATACACTTGCCACCAATCAGCCATCTTATTTTCTCTT[C/T]
TTTATTGAAATTTGTGTGAAGGTTGTCCCTTAGAGCAGGTTCAATAGGCTTATGTCAGCCGACGATAGGAATAAACAATTTAGTTTTTGGCTAAGGTGGA

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 90.20% 9.80% 0.00% 0.00% NA
All Indica  2759 94.10% 5.90% 0.00% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 3.30% 96.70% 0.00% 0.00% NA
Indica I  595 96.80% 3.20% 0.00% 0.00% NA
Indica II  465 98.70% 1.30% 0.00% 0.00% NA
Indica III  913 95.10% 4.90% 0.00% 0.00% NA
Indica Intermediate  786 88.20% 11.80% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 70.80% 29.20% 0.00% 0.00% NA
Intermediate  90 87.80% 12.20% 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
vg0527656990 G -> A LOC_Os05g48240.1 upstream_gene_variant ; 3305.0bp to feature; MODIFIER silent_mutation Average:96.881; most accessible tissue: Zhenshan97 root, score: 98.685 N N N N
vg0527656990 G -> A LOC_Os05g48260.1 upstream_gene_variant ; 3701.0bp to feature; MODIFIER silent_mutation Average:96.881; most accessible tissue: Zhenshan97 root, score: 98.685 N N N N
vg0527656990 G -> A LOC_Os05g48240.4 upstream_gene_variant ; 3305.0bp to feature; MODIFIER silent_mutation Average:96.881; most accessible tissue: Zhenshan97 root, score: 98.685 N N N N
vg0527656990 G -> A LOC_Os05g48250.1 downstream_gene_variant ; 687.0bp to feature; MODIFIER silent_mutation Average:96.881; most accessible tissue: Zhenshan97 root, score: 98.685 N N N N
vg0527656990 G -> A LOC_Os05g48240-LOC_Os05g48250 intergenic_region ; MODIFIER silent_mutation Average:96.881; most accessible tissue: Zhenshan97 root, score: 98.685 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)
vg0527656990 G A -0.02 0.03 0.03 0.02 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0527656990 7.23E-07 1.39E-07 mr1245 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
vg0527656990 8.71E-06 NA mr1261 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
vg0527656990 NA 8.86E-12 mr1522 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
vg0527656990 NA 2.97E-06 mr1574 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
vg0527656990 NA 7.83E-10 mr1730 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
vg0527656990 NA 6.68E-07 mr1762 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
vg0527656990 NA 4.34E-20 mr1817 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
vg0527656990 NA 2.96E-26 mr1858 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
vg0527656990 NA 2.72E-26 mr1859 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
vg0527656990 NA 1.62E-20 mr1095_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
vg0527656990 NA 5.93E-07 mr1522_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
vg0527656990 NA 1.80E-08 mr1829_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