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Detailed information for vg1126876356:

Variant ID: vg1126876356 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 26876356
Reference Allele: GAlternative Allele: A,GCGACGTCACTCTCAGATCGGGTA
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.82, G: 0.17, others allele: 0.00, population size: 72. )

Flanking Sequence (100 bp) in Reference Genome:


GGAATCATGCAACTGCCTCTCCGTCTCCGGTAAATAAAATATGTCCAATAAGTTCATGAAGTGGACGTGACTACGACGTAACCGTACACTGGATTGTCAT[G/A,GCGACGTCACTCTCAGATCGGGTA]
ACCAGCGACCTCACTCTCAGATCGGGTTGCTACTACTACACCCAACATTGCATGTATTTTTTTTCTTCTTATAAAATTTTCTCTTAAATTACTCATCTGA

Reverse complement sequence

TCAGATGAGTAATTTAAGAGAAAATTTTATAAGAAGAAAAAAAATACATGCAATGTTGGGTGTAGTAGTAGCAACCCGATCTGAGAGTGAGGTCGCTGGT[C/T,TACCCGATCTGAGAGTGACGTCGC]
ATGACAATCCAGTGTACGGTTACGTCGTAGTCACGTCCACTTCATGAACTTATTGGACATATTTTATTTACCGGAGACGGAGAGGCAGTTGCATGATTCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.60% 30.20% 3.05% 22.07% GCGACGTCACTCTCAGATCGGGTA: 0.08%
All Indica  2759 37.00% 26.00% 3.48% 33.53% GCGACGTCACTCTCAGATCGGGTA: 0.04%
All Japonica  1512 52.20% 41.90% 2.25% 3.70% NA
Aus  269 67.70% 10.00% 2.97% 18.22% GCGACGTCACTCTCAGATCGGGTA: 1.12%
Indica I  595 42.50% 35.00% 1.51% 21.01% NA
Indica II  465 51.20% 32.00% 2.37% 14.41% NA
Indica III  913 22.60% 20.70% 6.02% 50.71% NA
Indica Intermediate  786 41.20% 21.60% 2.67% 34.35% GCGACGTCACTCTCAGATCGGGTA: 0.13%
Temperate Japonica  767 24.00% 71.60% 1.43% 3.00% NA
Tropical Japonica  504 89.70% 4.40% 0.79% 5.16% NA
Japonica Intermediate  241 63.50% 25.70% 7.88% 2.90% NA
VI/Aromatic  96 80.20% 16.70% 2.08% 1.04% NA
Intermediate  90 44.40% 37.80% 4.44% 13.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44410.1 upstream_gene_variant ; 4642.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44415.1 upstream_gene_variant ; 2444.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44420.1 upstream_gene_variant ; 240.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44440.1 upstream_gene_variant ; 4811.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44430.1 downstream_gene_variant ; 1517.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> GCGACGTCACTCTCAGATCGGGTA LOC_Os11g44420-LOC_Os11g44430 intergenic_region ; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44410.1 upstream_gene_variant ; 4641.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44415.1 upstream_gene_variant ; 2443.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44420.1 upstream_gene_variant ; 239.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44440.1 upstream_gene_variant ; 4812.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44430.1 downstream_gene_variant ; 1518.0bp to feature; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> A LOC_Os11g44420-LOC_Os11g44430 intergenic_region ; MODIFIER silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 N N N N
vg1126876356 G -> DEL N N silent_mutation Average:56.83; most accessible tissue: Minghui63 root, score: 97.927 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)
vg1126876356 G A -0.07 -0.09 -0.08 -0.05 -0.12 -0.13
vg1126876356 G GCGAC* 0.54 0.27 0.27 -0.04 0.06 -0.16

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126876356 NA 2.39E-09 mr1271 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
vg1126876356 NA 4.18E-09 mr1295 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
vg1126876356 NA 1.23E-06 mr1548 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
vg1126876356 NA 3.51E-06 mr1644 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
vg1126876356 NA 1.59E-07 mr1010_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
vg1126876356 NA 1.80E-08 mr1191_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
vg1126876356 NA 6.68E-06 mr1295_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