Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63798734..63800662-chr2:63814042..63815743,2	MCF-7	breast:
2	chr2:63798423..63800359-chr2:63810410..63812684,2	K562	blood:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction

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

rs_ID	r²[population]
rs10191163	0.85[EUR][1000 genomes]
rs10200146	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11125979	0.85[ASN][1000 genomes]
rs11676682	0.80[ASN][1000 genomes]
rs169035	0.82[ASN][1000 genomes]
rs1869700	0.84[ASN][1000 genomes]
rs2421954	0.84[ASN][1000 genomes]
rs2422008	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262496	0.81[ASN][1000 genomes]
rs262497	0.81[ASN][1000 genomes]
rs262498	0.82[ASN][1000 genomes]
rs262499	0.82[ASN][1000 genomes]
rs262500	0.82[ASN][1000 genomes]
rs3754540	0.84[ASN][1000 genomes]
rs4671511	0.84[ASN][1000 genomes]
rs6731877	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6735907	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6737621	0.89[ASN][1000 genomes]
rs6756850	0.83[ASN][1000 genomes]
rs8179835	0.80[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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
3	chr2:63781000-63804000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:63789000-63808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:63789000-63808200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:63790600-63803000	Weak transcription	Fetal Heart	heart
7	chr2:63795000-63805600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:63797000-63805400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:63798200-63799400	Enhancers	HUVEC	blood vessel
10	chr2:63798400-63802400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:63798600-63800000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:63798800-63799400	Enhancers	Adipose Nuclei	Adipose
13	chr2:63799000-63799800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:63799200-63799400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:63799200-63799400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:63799200-63799400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:63799200-63808200	Weak transcription	Aorta	Aorta

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