Search for Variation information by Variation ID:

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

Detailed information for vg0500210720:

Variant ID: vg0500210720 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 210720
Reference Allele: GAlternative Allele: A,GA
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAACTACTCCCTCCGAAAAAAAAAAAAAAAAAAAGGAAAAAAGACAAACCCTGGTTTCCGTGCTTAACGTTTGACCGTTCATCTTATTTAAAAAAATTAT[G/A,GA]
AAAAAAATTAAAAAGATAAGTCACACATAAAATATTAATCATGTTTTATCATCTAACAACAATGAAAATACGAATTATAAAAAAATTTCATATAAGACGG

Reverse complement sequence

CCGTCTTATATGAAATTTTTTTATAATTCGTATTTTCATTGTTGTTAGATGATAAAACATGATTAATATTTTATGTGTGACTTATCTTTTTAATTTTTTT[C/T,TC]
ATAATTTTTTTAAATAAGATGAACGGTCAAACGTTAAGCACGGAAACCAGGGTTTGTCTTTTTTCCTTTTTTTTTTTTTTTTTTTCGGAGGGAGTAGTTA

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 55.00% 33.90% 6.20% 4.85% GA: 0.02%
All Indica  2759 31.20% 52.50% 7.97% 8.26% GA: 0.04%
All Japonica  1512 96.60% 3.40% 0.00% 0.00% NA
Aus  269 49.80% 24.90% 25.28% 0.00% NA
Indica I  595 17.30% 68.70% 5.38% 8.57% NA
Indica II  465 16.10% 58.30% 13.76% 11.83% NA
Indica III  913 50.50% 38.00% 5.04% 6.35% GA: 0.11%
Indica Intermediate  786 28.40% 53.60% 9.92% 8.14% NA
Temperate Japonica  767 94.80% 5.20% 0.00% 0.00% NA
Tropical Japonica  504 99.00% 1.00% 0.00% 0.00% NA
Japonica Intermediate  241 97.10% 2.90% 0.00% 0.00% NA
VI/Aromatic  96 90.60% 8.30% 1.04% 0.00% NA
Intermediate  90 64.40% 30.00% 4.44% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0500210720 G -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> GA LOC_Os05g01320.1 upstream_gene_variant ; 4965.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> GA LOC_Os05g01330.1 upstream_gene_variant ; 1028.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> GA LOC_Os05g01350.1 upstream_gene_variant ; 2846.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> GA LOC_Os05g01330-LOC_Os05g01350 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> A LOC_Os05g01320.1 upstream_gene_variant ; 4964.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> A LOC_Os05g01330.1 upstream_gene_variant ; 1027.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> A LOC_Os05g01350.1 upstream_gene_variant ; 2847.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500210720 G -> A LOC_Os05g01330-LOC_Os05g01350 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0500210720 G A 0.02 0.0 0.0 0.01 -0.01 0.0
vg0500210720 G GA -0.1 -0.08 -0.05 0.04 -0.03 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500210720 NA 1.93E-06 mr1215 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
vg0500210720 NA 1.52E-06 mr1236 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
vg0500210720 NA 2.12E-08 mr1249 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
vg0500210720 NA 9.25E-12 mr1352 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
vg0500210720 NA 6.67E-07 mr1445 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
vg0500210720 NA 6.95E-06 mr1461 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
vg0500210720 NA 2.55E-11 mr1751 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
vg0500210720 NA 8.53E-06 mr1830 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
vg0500210720 NA 3.07E-09 mr1198_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
vg0500210720 NA 1.80E-07 mr1215_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
vg0500210720 NA 7.21E-07 mr1236_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
vg0500210720 NA 6.36E-06 mr1277_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
vg0500210720 NA 3.33E-07 mr1376_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
vg0500210720 NA 7.10E-06 mr1740_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