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Detailed information for vg1102344709:

Variant ID: vg1102344709 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 2344709
Reference Allele: AGAGTGAGTGAGTAlternative Allele: AGAGTGAGTGAGTGAGT,AGAGTGAGT,AGAGTGAGTGAGTGAGTGAGT,A,AGAGT
Primary Allele: AGAGTGAGTGAGTSecondary Allele: AGAGTGAGTGAGTGAGT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTGCAAAGAAAAAGCTCTCCTCACACTACACCTCCAGGTGAAGTGCCTTTGCAGGAGAGTGTGATCATCACACCATGCTGCTGGCCACCATTTTAAGGGC[AGAGTGAGTGAGT/AGAGTGAGTGAGTGAGT,AGAGTGAGT,AGAGTGAGTGAGTGAGTGAGT,A,AGAGT]
GAGTGAGTGAGTGAGTGAAGAGCTCTGCATCTGCTCCGGTGAGGGCCACCACCACCGACAGGAATCACTGTAAAACTTATTAAGGCCTTTCATGGCAGTA

Reverse complement sequence

TACTGCCATGAAAGGCCTTAATAAGTTTTACAGTGATTCCTGTCGGTGGTGGTGGCCCTCACCGGAGCAGATGCAGAGCTCTTCACTCACTCACTCACTC[ACTCACTCACTCT/ACTCACTCACTCACTCT,ACTCACTCT,ACTCACTCACTCACTCACTCT,T,ACTCT]
GCCCTTAAAATGGTGGCCAGCAGCATGGTGTGATGATCACACTCTCCTGCAAAGGCACTTCACCTGGAGGTGTAGTGTGAGGAGAGCTTTTTCTTTGCAC

Allele Frequencies:

Populations Population SizeFrequency of AGAGTGAGTGAGT(primary allele) Frequency of AGAGTGAGTGAGTGAGT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 42.80% 36.60% 0.49% 0.02% AGAGTGAGT: 19.57%; AGAGTGAGTGAGTGAGTGAGT: 0.44%; AGAGT: 0.04%; A: 0.02%
All Indica  2759 16.00% 55.10% 0.65% 0.04% AGAGTGAGT: 27.55%; AGAGTGAGTGAGTGAGTGAGT: 0.65%; A: 0.04%
All Japonica  1512 96.90% 1.90% 0.13% 0.00% AGAGTGAGT: 0.99%; AGAGT: 0.13%
Aus  269 14.10% 39.80% 0.37% 0.00% AGAGTGAGT: 45.72%
Indica I  595 21.00% 4.20% 0.34% 0.00% AGAGTGAGT: 74.45%
Indica II  465 15.30% 79.40% 0.86% 0.00% AGAGTGAGT: 4.52%
Indica III  913 6.80% 78.00% 0.55% 0.00% AGAGTGAGT: 12.71%; AGAGTGAGTGAGTGAGTGAGT: 1.86%; A: 0.11%
Indica Intermediate  786 23.40% 52.50% 0.89% 0.13% AGAGTGAGT: 22.90%; AGAGTGAGTGAGTGAGTGAGT: 0.13%
Temperate Japonica  767 99.00% 0.90% 0.13% 0.00% NA
Tropical Japonica  504 95.00% 3.20% 0.00% 0.00% AGAGTGAGT: 1.59%; AGAGT: 0.20%
Japonica Intermediate  241 94.20% 2.10% 0.41% 0.00% AGAGTGAGT: 2.90%; AGAGT: 0.41%
VI/Aromatic  96 22.90% 60.40% 1.04% 0.00% AGAGTGAGT: 12.50%; AGAGTGAGTGAGTGAGTGAGT: 3.12%
Intermediate  90 61.10% 21.10% 1.11% 0.00% AGAGTGAGT: 16.67%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGT LOC_Os11g05290.1 upstream_gene_variant ; 5.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGT LOC_Os11g05280.1 downstream_gene_variant ; 3956.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGT LOC_Os11g05300.1 downstream_gene_variant ; 793.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGT LOC_Os11g05290-LOC_Os11g05300 intergenic_region ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05290.1 5_prime_UTR_variant ; 127.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05290.1 upstream_gene_variant ; 0.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05280.1 downstream_gene_variant ; 3948.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05300.1 downstream_gene_variant ; 801.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05290-LOC_Os11g05300 intergenic_region ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> A LOC_Os11g05290.1 non_coding_transcript_variant ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> DEL N N silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGT LOC_Os11g05290.1 upstream_gene_variant ; 1.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGT LOC_Os11g05280.1 downstream_gene_variant ; 3952.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGT LOC_Os11g05300.1 downstream_gene_variant ; 797.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGT LOC_Os11g05290-LOC_Os11g05300 intergenic_region ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGTGAGT LOC_Os11g05290.1 upstream_gene_variant ; 9.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGTGAGT LOC_Os11g05280.1 downstream_gene_variant ; 3960.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGTGAGT LOC_Os11g05300.1 downstream_gene_variant ; 789.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGTGAGT LOC_Os11g05290-LOC_Os11g05300 intergenic_region ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGT LOC_Os11g05290.1 upstream_gene_variant ; 9.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGT LOC_Os11g05280.1 downstream_gene_variant ; 3960.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGT LOC_Os11g05300.1 downstream_gene_variant ; 789.0bp to feature; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 N N N N
vg1102344709 AGAGTGAGTGAGT -> AGAGTGAGTGAGTGAGT LOC_Os11g05290-LOC_Os11g05300 intergenic_region ; MODIFIER silent_mutation Average:84.925; most accessible tissue: Zhenshan97 panicle, score: 96.173 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)
vg1102344709 AGAGT* A -0.12 -0.07 -0.03 -0.36 -0.24 -0.12
vg1102344709 AGAGT* AGAGT -0.17 -0.09 -0.02 -0.33 -0.24 -0.19
vg1102344709 AGAGT* AGAGT* 0.14 0.04 0.01 0.03 0.12 0.14