Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:27240396..27242299-chr5:27243332..27245051,2	K562	blood:
2	chr5:27219501..27221049-chr5:27242814..27244640,2	K562	blood:
3	chr5:27236697..27239558-chr5:27243004..27246316,3	K562	blood:
4	chr5:27242737..27244704-chr5:27247749..27250273,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1026764	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110293	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659205	0.94[AFR][1000 genomes]
rs17509120	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567635	1.00[ASN][1000 genomes]
rs2125762	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34372144	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340884	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407597	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346496	1.00[ASN][1000 genomes]
rs62346497	1.00[ASN][1000 genomes]
rs62346498	1.00[ASN][1000 genomes]
rs62346499	1.00[ASN][1000 genomes]
rs62346500	1.00[ASN][1000 genomes]
rs62346501	1.00[ASN][1000 genomes]
rs62346502	1.00[ASN][1000 genomes]
rs62346503	1.00[ASN][1000 genomes]
rs62346557	1.00[ASN][1000 genomes]
rs67301485	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729012	1.00[ASN][1000 genomes]
rs72729014	1.00[ASN][1000 genomes]
rs72729015	1.00[ASN][1000 genomes]
rs72729016	1.00[ASN][1000 genomes]
rs72729018	1.00[ASN][1000 genomes]
rs72742714	1.00[ASN][1000 genomes]
rs72744611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744614	1.00[EUR][1000 genomes]
rs72744616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744624	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744629	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27240800-27243800	Enhancers	HMEC	breast
2	chr5:27241000-27243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:27241200-27243800	Enhancers	NHEK	skin
4	chr5:27243200-27244000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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