Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56026426..56029048-chr2:56036934..56038666,2	K562	blood:
2	chr2:56036866..56038749-chr2:56067694..56069314,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10496051	0.91[ASN][1000 genomes]
rs11125602	0.91[ASN][1000 genomes]
rs11125603	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464737	0.91[ASN][1000 genomes]
rs12472090	0.89[AMR][1000 genomes]
rs12472893	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1346782	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1946545	0.91[ASN][1000 genomes]
rs1985163	0.91[ASN][1000 genomes]
rs4146921	0.82[ASN][1000 genomes]
rs4146922	0.85[ASN][1000 genomes]
rs4347871	0.87[ASN][1000 genomes]
rs58027672	0.87[ASN][1000 genomes]
rs62164463	0.85[ASN][1000 genomes]
rs62167713	0.91[ASN][1000 genomes]
rs6545522	0.93[ASN][1000 genomes]
rs6724369	0.91[ASN][1000 genomes]
rs7560657	0.91[ASN][1000 genomes]
rs7563032	0.80[ASN][1000 genomes]
rs7591694	0.80[ASN][1000 genomes]
rs9753383	0.89[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56036800-56038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:56036800-56038800	Enhancers	A549	lung
4	chr2:56037000-56038600	Enhancers	Adipose Nuclei	Adipose
5	chr2:56037000-56038800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:56037000-56038800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56037000-56038800	Enhancers	Hela-S3	cervix
8	chr2:56037200-56038800	Enhancers	NHEK	skin
9	chr2:56037600-56038800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:56037600-56038800	Enhancers	HMEC	breast
11	chr2:56037800-56038400	Enhancers	HUVEC	blood vessel
12	chr2:56037800-56038800	Enhancers	HSMM	muscle
13	chr2:56037800-56038800	Enhancers	Osteobl	bone
14	chr2:56038000-56039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:56038000-56039000	Weak transcription	Aorta	Aorta
16	chr2:56038200-56038400	Enhancers	Muscle Satellite Cultured Cells	--

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