Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:104561165-104561853	T-47D	breast:	n/a	n/a
2	EP300	chr12:104561191-104561632	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104556259..104558196-chr12:104560422..104562244,2	K562	blood:
2	chr12:104560247..104562977-chr12:104565263..104567117,2	K562	blood:
3	chr12:104531056..104533803-chr12:104557719..104561243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257193	TF binding region
ENSG00000120837	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11111937	1.00[ASN][1000 genomes]
rs11111942	1.00[ASN][1000 genomes]
rs11111969	1.00[ASN][1000 genomes]
rs11112015	1.00[ASN][1000 genomes]
rs12809773	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812451	1.00[ASN][1000 genomes]
rs12813601	1.00[ASN][1000 genomes]
rs12819539	1.00[ASN][1000 genomes]
rs12826196	1.00[ASN][1000 genomes]
rs12828655	1.00[ASN][1000 genomes]
rs17034955	1.00[ASN][1000 genomes]
rs34309392	1.00[ASN][1000 genomes]
rs34811234	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34863477	1.00[ASN][1000 genomes]
rs35392305	1.00[ASN][1000 genomes]
rs35453744	1.00[ASN][1000 genomes]
rs35473944	1.00[ASN][1000 genomes]
rs35822062	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35844634	1.00[ASN][1000 genomes]
rs35945288	1.00[ASN][1000 genomes]
rs4964733	1.00[ASN][1000 genomes]
rs4964778	1.00[ASN][1000 genomes]
rs6539127	1.00[ASN][1000 genomes]
rs66554757	1.00[ASN][1000 genomes]
rs71466293	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71466302	1.00[ASN][1000 genomes]
rs7294701	1.00[ASN][1000 genomes]
rs7305137	1.00[ASN][1000 genomes]
rs7311508	1.00[ASN][1000 genomes]
rs7313536	1.00[ASN][1000 genomes]
rs7978310	1.00[ASN][1000 genomes]
rs7979945	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104559200-104563800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:104560000-104562800	Enhancers	Placenta	Placenta
3	chr12:104560600-104563800	Weak transcription	Right Ventricle	heart
4	chr12:104560600-104565800	Weak transcription	Spleen	Spleen

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