Variant report

No.	Distal block	Cell Line	Cell type
1	chr18:45457936..45459581-chr18:45522909..45525211,2	K562	blood:
2	chr18:45522234..45524645-chr18:45528573..45530359,2	MCF-7	breast:
3	chr18:45298691..45299611-chr18:45523866..45524534,2	MCF-7	breast:
4	chr18:45456711..45459581-chr18:45522909..45525211,3	K562	blood:
5	chr18:45458829..45459660-chr18:45523676..45524233,2	MCF-7	breast:
6	chr18:45457637..45459201-chr18:45523865..45526054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs4328241	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4329718	0.94[EUR][1000 genomes]
rs4331136	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4401107	0.94[EUR][1000 genomes]
rs4623931	0.94[EUR][1000 genomes]
rs56055402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916036	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916073	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916076	0.94[EUR][1000 genomes]
rs72916077	0.94[EUR][1000 genomes]
rs72916085	0.94[EUR][1000 genomes]
rs72916088	0.94[EUR][1000 genomes]
rs72916089	0.94[EUR][1000 genomes]
rs72916090	0.94[EUR][1000 genomes]
rs72916093	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45516200-45527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:45517600-45529000	Weak transcription	Right Ventricle	heart
3	chr18:45520400-45529600	Weak transcription	Stomach Mucosa	stomach
4	chr18:45521200-45526200	Weak transcription	Hela-S3	cervix
5	chr18:45522200-45524000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:45523400-45524000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:45523600-45524000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr18:45523600-45524200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:45523800-45524000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:45523800-45524000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:45523800-45524000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr18:45523800-45524000	ZNF genes & repeats	Aorta	Aorta
13	chr18:45523800-45524200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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