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Detailed information for vg0304539133:

Variant ID: vg0304539133 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 4539133
Reference Allele: GAGAAlternative Allele: AAGA,G
Primary Allele: GAGASecondary Allele: AAGA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATATTTCCCTAGCTAGTTAATAGTGAGGAAGCAAATACATGTACTGAAAGAAAATAAAAGGAGATTAATTGTGAGGAAGCAAATACATGTACTGAAAGA[GAGA/AAGA,G]
AAAAAAAAAGAGATTTGGAGGGATGTGAAATTGTGAGAGGGCTAGGGATTGAACATAAAACCTCAGAGTTGAAACCACACGCCGACTACTATTACACTAT

Reverse complement sequence

ATAGTGTAATAGTAGTCGGCGTGTGGTTTCAACTCTGAGGTTTTATGTTCAATCCCTAGCCCTCTCACAATTTCACATCCCTCCAAATCTCTTTTTTTTT[TCTC/TCTT,C]
TCTTTCAGTACATGTATTTGCTTCCTCACAATTAATCTCCTTTTATTTTCTTTCAGTACATGTATTTGCTTCCTCACTATTAACTAGCTAGGGAAATATT

Allele Frequencies:

Populations Population SizeFrequency of GAGA(primary allele) Frequency of AAGA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.40% 0.20% 11.28% 5.06% G: 0.08%
All Indica  2759 93.60% 0.00% 3.73% 2.46% G: 0.14%
All Japonica  1512 64.70% 0.10% 25.00% 10.19% NA
Aus  269 90.30% 2.20% 7.43% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 88.40% 0.00% 7.74% 3.87% NA
Indica III  913 91.70% 0.00% 4.49% 3.50% G: 0.33%
Indica Intermediate  786 94.10% 0.10% 3.31% 2.29% G: 0.13%
Temperate Japonica  767 49.00% 0.10% 39.37% 11.47% NA
Tropical Japonica  504 83.10% 0.20% 7.34% 9.33% NA
Japonica Intermediate  241 75.90% 0.00% 16.18% 7.88% NA
VI/Aromatic  96 62.50% 0.00% 27.08% 10.42% NA
Intermediate  90 85.60% 0.00% 6.67% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0304539133 GAGA -> G LOC_Os03g08790.1 upstream_gene_variant ; 2217.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> G LOC_Os03g08770.1 downstream_gene_variant ; 2509.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> G LOC_Os03g08800.1 downstream_gene_variant ; 4183.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> G LOC_Os03g08770.2 downstream_gene_variant ; 2509.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> G LOC_Os03g08770-LOC_Os03g08790 intergenic_region ; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> DEL N N silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> AAGA LOC_Os03g08790.1 upstream_gene_variant ; 2218.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> AAGA LOC_Os03g08770.1 downstream_gene_variant ; 2508.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> AAGA LOC_Os03g08800.1 downstream_gene_variant ; 4184.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> AAGA LOC_Os03g08770.2 downstream_gene_variant ; 2508.0bp to feature; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 N N N N
vg0304539133 GAGA -> AAGA LOC_Os03g08770-LOC_Os03g08790 intergenic_region ; MODIFIER silent_mutation Average:65.207; most accessible tissue: Zhenshan97 panicle, score: 86.432 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)
vg0304539133 GAGA AAGA -0.02 -0.04 -0.04 -0.03 -0.05 -0.04
vg0304539133 GAGA G -0.19 0.07 0.09 -0.08 0.0 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0304539133 NA 5.75E-06 mr1158_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
vg0304539133 NA 1.82E-07 mr1294_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
vg0304539133 NA 2.57E-06 mr1419_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
vg0304539133 NA 2.29E-06 mr1420_2 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
vg0304539133 NA 1.83E-06 mr1488_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
vg0304539133 NA 8.27E-06 mr1492_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
vg0304539133 NA 5.59E-07 mr1497_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
vg0304539133 NA 2.78E-07 mr1604_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
vg0304539133 NA 7.92E-06 mr1764_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
vg0304539133 NA 6.81E-06 mr1779_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
vg0304539133 NA 9.62E-06 mr1813_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
vg0304539133 NA 6.09E-06 mr1814_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
vg0304539133 NA 1.06E-06 mr1894_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