Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51687260-51687410	HCT-116	colon:	n/a	chr19:51687320-51687333
2	CTCF	chr19:51687320-51687470	HEK293	kidney:	n/a	chr19:51687320-51687333
3	CTCF	chr19:51687340-51687490	A549	lung:	n/a	n/a
4	CTCF	chr19:51687320-51687470	K562	blood:	n/a	chr19:51687320-51687333
5	CTCF	chr19:51687380-51687530	K562	blood:	n/a	n/a
6	CTCF	chr19:51687380-51687530	Caco-2	colon:	n/a	n/a
7	CTCF	chr19:51687360-51687510	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51686150..51688287-chr19:51697466..51699885,2	K562	blood:

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007755	1.00[EUR][1000 genomes]
rs10403860	1.00[EUR][1000 genomes]
rs10405869	1.00[EUR][1000 genomes]
rs10407410	1.00[EUR][1000 genomes]
rs10416208	1.00[EUR][1000 genomes]
rs10418167	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419749	1.00[EUR][1000 genomes]
rs10421703	1.00[EUR][1000 genomes]
rs10422661	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423943	1.00[EUR][1000 genomes]
rs11882250	1.00[EUR][1000 genomes]
rs2075692	1.00[EUR][1000 genomes]
rs28693721	1.00[EUR][1000 genomes]
rs56662071	1.00[EUR][1000 genomes]
rs57033225	1.00[EUR][1000 genomes]
rs57511882	1.00[EUR][1000 genomes]
rs58664594	1.00[EUR][1000 genomes]
rs58768535	1.00[EUR][1000 genomes]
rs59520043	1.00[EUR][1000 genomes]
rs59941188	1.00[EUR][1000 genomes]
rs60865290	1.00[EUR][1000 genomes]
rs61437908	1.00[EUR][1000 genomes]
rs7245714	1.00[EUR][1000 genomes]
rs7246875	1.00[EUR][1000 genomes]
rs7253323	1.00[EUR][1000 genomes]
rs7253328	1.00[EUR][1000 genomes]
rs7255167	1.00[EUR][1000 genomes]
rs7255602	1.00[EUR][1000 genomes]
rs73597589	1.00[EUR][1000 genomes]
rs73597600	1.00[EUR][1000 genomes]
rs73612266	1.00[EUR][1000 genomes]
rs73612698	1.00[EUR][1000 genomes]
rs73612702	1.00[EUR][1000 genomes]
rs73932868	1.00[EUR][1000 genomes]
rs73936112	1.00[EUR][1000 genomes]
rs8105500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51685000-51688600	Enhancers	Primary hematopoietic stem cells	blood
2	chr19:51685800-51687400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:51685800-51688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:51685800-51689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:51686400-51691200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:51687000-51687400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:51687000-51687400	Enhancers	Gastric	stomach
8	chr19:51687000-51687600	ZNF genes & repeats	Spleen	Spleen
9	chr19:51687000-51687800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:51687000-51688000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
11	chr19:51687200-51687400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr19:51687200-51688600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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