Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12810051	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12813857	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12832186	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2249315	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249841	0.91[AFR][1000 genomes]
rs2465203	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2465610	0.93[AFR][1000 genomes]
rs2465611	0.85[EUR][1000 genomes]
rs2465642	0.91[AFR][1000 genomes]
rs2465643	0.91[AFR][1000 genomes]
rs2711696	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2715780	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34666797	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34881657	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35024790	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7132156	0.91[EUR][1000 genomes]
rs7310091	0.91[EUR][1000 genomes]
rs74082953	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74082963	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082966	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980196	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47284800-47286800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47284800-47287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47284800-47287600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:47285200-47298400	Weak transcription	HSMM	muscle
6	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
7	chr12:47286000-47287000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:47286000-47287400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:47286000-47287600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:47286400-47286800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr12:47286600-47286800	Enhancers	HSMMtube	muscle

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