Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4632734..4636747-chr6:4678109..4681305,3	K562	blood:
2	chr6:4669229..4672483-chr6:4677301..4680282,4	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1040542	0.94[EUR][1000 genomes]
rs1040543	0.95[EUR][1000 genomes]
rs13195286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13215768	0.95[EUR][1000 genomes]
rs2073041	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2076518	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs423699	0.95[EUR][1000 genomes]
rs440298	0.94[EUR][1000 genomes]
rs451971	0.95[EUR][1000 genomes]
rs4960015	0.92[EUR][1000 genomes]
rs761180	0.93[EUR][1000 genomes]
rs761181	0.93[EUR][1000 genomes]
rs761182	0.95[EUR][1000 genomes]
rs7759755	0.95[EUR][1000 genomes]
rs9378898	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378899	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378900	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378901	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378902	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9392060	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9392621	0.95[EUR][1000 genomes]
rs9502221	0.94[ASN][1000 genomes]
rs9504197	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv883416	chr6:4666878-4690760	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9504195	RPP40	cis	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4665000-4680400	Weak transcription	Right Atrium	heart
2	chr6:4669000-4695600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:4675600-4684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4678200-4684000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:4678800-4679400	Enhancers	K562	blood
6	chr6:4679200-4679400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:4679200-4679400	Enhancers	Esophagus	oesophagus
8	chr6:4679200-4679600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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