Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56013752..56016593-chr2:56035639..56038180,2	MCF-7	breast:
2	chr2:56033387..56036369-chr2:56176860..56179763,2	K562	blood:

Variant related genes	Relation type
ENSG00000202344	Chromatin interaction
ENSG00000272180	Chromatin interaction

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

rs_ID	r²[population]
rs10173540	0.81[AMR][1000 genomes]
rs10186499	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189460	0.81[AMR][1000 genomes]
rs10196888	0.81[AMR][1000 genomes]
rs11680015	0.86[ASN][1000 genomes]
rs11682872	0.88[ASN][1000 genomes]
rs11695502	0.86[ASN][1000 genomes]
rs13394642	0.81[AMR][1000 genomes]
rs13403273	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413609	0.81[AMR][1000 genomes]
rs28744383	0.81[AMR][1000 genomes]
rs4260283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122343	0.88[ASN][1000 genomes]
rs59870589	0.88[ASN][1000 genomes]
rs59877895	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723695	0.81[AMR][1000 genomes]
rs72807729	0.86[AMR][1000 genomes]
rs72807735	0.86[AMR][1000 genomes]
rs7577580	0.81[AMR][1000 genomes]
rs7604558	0.81[AMR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56032000-56036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:56032000-56036800	Weak transcription	A549	lung
4	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:56032200-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:56032200-56036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:56032200-56036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56033000-56037000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56033200-56037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56033200-56037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56033400-56037000	Weak transcription	Fetal Brain Female	brain
12	chr2:56033600-56037000	Weak transcription	Aorta	Aorta
13	chr2:56035600-56037000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:56035600-56037000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:56036000-56037000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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