Variant report

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

rs_ID	r²[population]
rs1444651	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56144112	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62373330	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62373331	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62373332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62373333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373334	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62373335	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62373356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62373357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62373358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62373359	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62374660	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62374662	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62374665	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62374666	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72781173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781179	0.96[EUR][1000 genomes]
rs72781189	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs751656	1.00[AMR][1000 genomes];0.94[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	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124635000-124646800	Weak transcription	HSMMtube	muscle
2	chr5:124635200-124648000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:124644000-124647000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124645800-124648200	Enhancers	HUVEC	blood vessel
5	chr5:124646200-124647600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:124646200-124647800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:124646200-124648200	Enhancers	NHEK	skin
8	chr5:124646200-124648400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:124646200-124648400	Enhancers	HMEC	breast
10	chr5:124646200-124648400	Enhancers	HSMM	muscle
11	chr5:124646200-124648600	Enhancers	NHDF-Ad	bronchial

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