Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:63118923..63121518-chr17:63126607..63128778,3	K562	blood:
2	chr17:62970044..62972484-chr17:63125849..63128468,2	MCF-7	breast:
3	chr17:63109946..63111950-chr17:63125496..63128407,2	MCF-7	breast:
4	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214174	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1344372	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs190961	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1968572	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2017033	0.96[EUR][1000 genomes]
rs299835	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs299841	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59445569	0.85[EUR][1000 genomes]
rs59814918	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66806875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343983	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73343993	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73345822	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345825	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345827	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345832	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345835	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345883	0.85[EUR][1000 genomes]
rs73345887	0.85[EUR][1000 genomes]
rs73345896	0.85[EUR][1000 genomes]
rs7359499	0.85[EUR][1000 genomes]
rs986090	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv527042	chr17:63123532-63128261	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:63126800-63128200	Enhancers	Fetal Intestine Large	intestine
4	chr17:63126800-63129000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:63126800-63129000	Enhancers	Fetal Intestine Small	intestine
6	chr17:63127000-63128200	Enhancers	Liver	Liver
7	chr17:63127000-63129000	Enhancers	NHDF-Ad	bronchial
8	chr17:63127200-63128400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:63127400-63128400	Enhancers	NHLF	lung
10	chr17:63127400-63128600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:63127400-63129000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:63127400-63133000	Weak transcription	GM12878-XiMat	blood
13	chr17:63127600-63129000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr17:63127600-63133000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:63127800-63128200	Enhancers	Osteobl	bone
16	chr17:63127800-63128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:63127800-63129000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:63128000-63128200	Flanking Active TSS	HepG2	liver
19	chr17:63128000-63128400	Enhancers	NH-A	brain
20	chr17:63128000-63132800	Weak transcription	Duodenum Mucosa	Duodenum

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