Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120085087..120087240-chr12:120102700..120105114,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10774512	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849687	0.85[ASN][1000 genomes]
rs11064867	0.80[ASN][1000 genomes]
rs11064868	0.87[ASN][1000 genomes]
rs1123790	0.95[EUR][1000 genomes]
rs12309592	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966324	0.87[ASN][1000 genomes]
rs1970985	0.81[EUR][1000 genomes]
rs1985793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2188711	0.95[EUR][1000 genomes]
rs2301655	0.95[EUR][1000 genomes]
rs2393549	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2393550	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs278124	0.92[EUR][1000 genomes]
rs2893806	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767836	0.88[EUR][1000 genomes]
rs4767837	0.81[ASN][1000 genomes]
rs4767838	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490262	0.89[ASN][1000 genomes]
rs6490263	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490264	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490265	0.90[ASN][1000 genomes]
rs7953776	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120083600-120094400	Weak transcription	HSMM	muscle
2	chr12:120085800-120086400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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