Variant report

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:133015082-133015291	GM12878	blood:	n/a	n/a
2	CTCF	chr6:133015161-133015272	GM12878	blood:	n/a	n/a
3	RAD21	chr6:133015105-133015304	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:133015142-133015278	K562	blood:	n/a	n/a
5	RAD21	chr6:133015053-133015311	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr6:133015131-133015274	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:133015140-133015290	MCF-7	breast:	n/a	n/a
8	RAD21	chr6:133014954-133015348	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:133015140-133015290	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr6:133015106-133015328	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:133015160-133015310	HCFaa	heart:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133014677..133015377-chr6:133088872..133089774,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCNG1P1	TF binding region

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1024178	0.80[CHD][hapmap]
rs1569653	0.86[JPT][hapmap]
rs2267950	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798800	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798801	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62425072	0.81[ASN][1000 genomes]
rs62425075	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742516	0.82[ASN][1000 genomes]
rs9375915	0.80[ASN][1000 genomes]
rs9389025	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9389026	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9399040	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2272996	VNN1	cis	multi-tissue	Pritchard
rs2272996	AHI1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133004800-133016400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:133008800-133016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:133011800-133017200	Weak transcription	Spleen	Spleen
4	chr6:133014600-133015400	Genic enhancers	Liver	Liver
5	chr6:133015000-133017800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:133015200-133017000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:133015200-133017400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:133015200-133019400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:133015200-133019800	Weak transcription	Stomach Mucosa	stomach

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