Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:28677418..28680355-chr6:28735511..28738375,2	K562	blood:
2	chr6:28676549..28680840-chr6:28724202..28726516,6	K562	blood:
3	chr6:28677880..28679993-chr6:28950394..28952978,2	K562	blood:
4	chr6:28677024..28680294-chr6:28708371..28711108,3	K562	blood:
5	chr6:28676549..28680032-chr6:28724574..28727425,3	K562	blood:
6	chr6:28678329..28679999-chr6:28949047..28951282,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12660605	0.91[ASN][1000 genomes]
rs2394130	0.89[ASN][1000 genomes]
rs2893970	0.88[ASN][1000 genomes]
rs2893973	0.89[ASN][1000 genomes]
rs3869043	0.88[ASN][1000 genomes]
rs56404349	0.99[ASN][1000 genomes]
rs72844382	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257110	0.90[ASN][1000 genomes]
rs9257111	0.90[ASN][1000 genomes]
rs9257112	0.89[ASN][1000 genomes]
rs9257114	0.88[ASN][1000 genomes]
rs9257115	0.86[ASN][1000 genomes]
rs9257117	0.84[ASN][1000 genomes]
rs9257124	0.81[ASN][1000 genomes]
rs9257129	0.82[ASN][1000 genomes]
rs9257132	0.82[ASN][1000 genomes]
rs9257149	0.81[AMR][1000 genomes]
rs9257150	0.86[AMR][1000 genomes]
rs9257157	0.86[AMR][1000 genomes]
rs9257172	0.86[AMR][1000 genomes]
rs9257175	0.84[AMR][1000 genomes]
rs9348812	0.99[ASN][1000 genomes]
rs9368571	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380085	0.99[ASN][1000 genomes]
rs9380086	0.97[ASN][1000 genomes]
rs9393928	0.97[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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv3449735	chr6:28679873-28681871	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1539584	ZNF391	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28677800-28680000	Weak transcription	HMEC	breast
2	chr6:28679000-28680000	Weak transcription	A549	lung
3	chr6:28679400-28680200	Enhancers	K562	blood
4	chr6:28679600-28680000	Weak transcription	NHEK	skin

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