Variant report

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:166806518-166808834	K562	blood:	n/a	n/a
2	POLR2A	chr1:166806657-166807233	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:166807023-166811173	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166649643..166651708-chr1:166806859..166808634,2	MCF-7	breast:
3	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
4	chr1:166806593..166810261-chr1:166844073..166846866,6	K562	blood:
5	chr1:166806409..166808484-chr1:167002328..167004286,2	K562	blood:
6	chr1:166794651..166797041-chr1:166805983..166808109,2	K562	blood:

No data

Variant related genes	Relation type
POGK	TF binding region
ENSG00000152382	Chromatin interaction

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10753743	0.81[EUR][1000 genomes]
rs10800265	0.83[EUR][1000 genomes]
rs10918585	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11803833	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs2205647	0.83[EUR][1000 genomes]
rs2272792	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs2312237	0.88[CEU][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4657608	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6667673	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6670494	0.83[EUR][1000 genomes]
rs6683488	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs760536	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7544940	PPOX	cis	parietal	SCAN
rs7544940	RGS4	cis	parietal	SCAN
rs7544940	MAEL	cis	parietal	SCAN
rs7544940	ADAMTS4	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166802000-166807600	Weak transcription	Spleen	Spleen
2	chr1:166803400-166808200	Weak transcription	Lung	lung
3	chr1:166803600-166807600	Weak transcription	Psoas Muscle	Psoas
4	chr1:166805200-166807400	Weak transcription	Pancreas	Pancrea
5	chr1:166805600-166807800	Enhancers	HMEC	breast
6	chr1:166806000-166807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:166806200-166807400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:166806200-166807400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:166806200-166807600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:166806200-166807800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:166806200-166807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:166806200-166807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:166806200-166808200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:166806400-166807600	Weak transcription	NHEK	skin
15	chr1:166806600-166807200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:166806800-166807800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:166807000-166807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:166807000-166807400	Weak transcription	Fetal Lung	lung

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