Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:128350382..128352686-chr7:128356502..128358427,2	K562	blood:
2	chr7:128355752..128358740-chr7:128362417..128366090,6	K562	blood:
3	chr7:128356625..128358550-chr7:128367643..128370229,2	K562	blood:
4	chr7:128351186..128353763-chr7:128356302..128358427,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10954208	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10954209	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10954210	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763357	0.83[AMR][1000 genomes]
rs12532347	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534956	0.87[AMR][1000 genomes]
rs2013189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060718	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56403867	0.83[AMR][1000 genomes]
rs57185253	0.83[AMR][1000 genomes]
rs58709686	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58781928	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60117311	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481882	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481884	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481903	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62481943	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6965563	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971091	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73723614	0.89[AMR][1000 genomes];0.88[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2003954	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs2003954	RP11-274B21.4	cis	lung	GTEx
rs2003954	RP11-274B21.2	cis	lung	GTEx
rs2003954	CICP14	cis	Thyroid	GTEx
rs2003954	RP11-274B21.1	cis	Thyroid	GTEx
rs2003954	RP11-274B21.2	cis	Thyroid	GTEx
rs2003954	RP11-274B21.1	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:128357400-128360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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