Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120185120..120186939-chr6:120191619..120193219,2	K562	blood:
2	chr6:120165311..120167108-chr6:120183604..120186409,2	K562	blood:

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

rs_ID	r²[population]
rs12527104	0.97[EUR][1000 genomes]
rs12528002	0.96[EUR][1000 genomes]
rs12530313	0.97[EUR][1000 genomes]
rs13200922	0.97[EUR][1000 genomes]
rs13206217	0.97[EUR][1000 genomes]
rs13208822	0.97[EUR][1000 genomes]
rs1329530	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1330105	0.97[EUR][1000 genomes]
rs1330106	0.97[EUR][1000 genomes]
rs1330113	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17630332	0.97[EUR][1000 genomes]
rs17636630	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245504	0.97[EUR][1000 genomes]
rs4403287	0.97[EUR][1000 genomes]
rs4945650	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4946445	0.97[EUR][1000 genomes]
rs4946447	0.97[EUR][1000 genomes]
rs4946448	0.97[EUR][1000 genomes]
rs496149	0.81[ASN][1000 genomes]
rs6917690	0.97[EUR][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	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv886572	chr6:120165475-120284480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9374842	TSPYL1	cis	parietal	SCAN
rs9374842	MAN1A1	cis	cerebellum	SCAN
rs9374842	NKAIN2	cis	parietal	SCAN
rs9374842	GPRC6A	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120183800-120187200	Enhancers	NHEK	skin
2	chr6:120184000-120186000	Enhancers	HMEC	breast
3	chr6:120184200-120187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:120184400-120185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:120184600-120185800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:120184800-120186000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:120185000-120186000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:120185000-120186600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:120185000-120187400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:120185400-120186000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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