Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64307888-64312302..11:64426650-64437729	K562	blood:
2	11:64307888-64312302..11:64523887-64530985	Hela-S3	cervix:
3	11:64307888-64312302..11:64402707-64415880	H1-hESC	embryonic stem cell:	embryo
4	11:64307888-64312302..11:64415880-64426617	H1-hESC	embryonic stem cell:	embryo
5	11:64207610-64216678..11:64307888-64312302	K562	blood:
6	11:64307888-64312302..11:64501239-64517861	Hela-S3	cervix:

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

rs_ID	r²[population]
rs11231808	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11231814	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231815	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231816	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12362644	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12363578	0.85[ASN][1000 genomes]
rs12417589	0.80[EUR][1000 genomes]
rs17372915	0.85[ASN][1000 genomes]
rs2078267	0.85[ASN][1000 genomes]
rs2164495	0.92[ASN][1000 genomes]
rs34484509	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34812986	0.92[ASN][1000 genomes]
rs4930195	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930420	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930426	0.92[ASN][1000 genomes]
rs6591859	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7123852	0.80[EUR][1000 genomes]
rs7124676	0.92[ASN][1000 genomes]
rs71456318	0.92[ASN][1000 genomes]
rs7936185	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64304000-64310800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:64305000-64311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:64307400-64315600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64309400-64311000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:64309400-64311200	Enhancers	Placenta	Placenta
6	chr11:64309800-64310600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:64309800-64310600	Flanking Active TSS	HMEC	breast
8	chr11:64310000-64310200	Flanking Active TSS	NHEK	skin
9	chr11:64310000-64310400	Enhancers	Esophagus	oesophagus
10	chr11:64310000-64310600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:64310000-64310800	Enhancers	Hela-S3	cervix

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