Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55678413..55680663-chr19:55987630..55990002,2	MCF-7	breast:
2	chr19:55677887..55680823-chr19:55918139..55920221,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPS8L1-4	chr19:55679976-55681932	ucscGeneNc_uc002psm_1

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

rs_ID	r²[population]
rs10424609	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10424638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669300	0.84[ASN][1000 genomes]
rs11670538	0.92[ASN][1000 genomes]
rs11672000	0.84[ASN][1000 genomes]
rs11672834	0.84[ASN][1000 genomes]
rs13343638	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16986289	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16986292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16986294	1.00[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3729837	0.96[ASN][1000 genomes]
rs3729841	1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[ASN][1000 genomes]
rs3859540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3859542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7248799	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107129	1.00[ASN][1000 genomes]
rs8107736	1.00[ASN][1000 genomes]
rs8110415	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9749340	1.00[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	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv912453	chr19:55672007-55690398	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6509930	ZNF552	cis	parietal	SCAN
rs6509930	ZNF324	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55679000-55684000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:55679200-55682800	Weak transcription	K562	blood
3	chr19:55679400-55683800	Weak transcription	HMEC	breast
4	chr19:55679400-55684000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:55679400-55684000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:55679400-55684000	Weak transcription	Hela-S3	cervix
7	chr19:55679400-55684000	Weak transcription	NHEK	skin

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