Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:87808889-87809781	HepG2	liver:	n/a	chr6:87809009-87809021
2	FOXA1	chr6:87809003-87809730	HepG2	liver:	n/a	chr6:87809009-87809021
3	MBD4	chr6:87809168-87809637	HepG2	liver:	n/a	n/a
4	EP300	chr6:87809233-87809643	HepG2	liver:	n/a	chr6:87809596-87809610
5	FOXA2	chr6:87808798-87810049	HepG2	liver:	n/a	chr6:87809009-87809021
6	CUX1	chr6:87808933-87809767	GM12878	blood:	n/a	chr6:87809404-87809413
7	NFIC	chr6:87808982-87809666	HepG2	liver:	n/a	n/a
8	HNF4A	chr6:87809341-87809607	HepG2	liver:	n/a	n/a
9	RXRA	chr6:87809253-87809540	HepG2	liver:	n/a	n/a
10	HDAC2	chr6:87809245-87809635	HepG2	liver:	n/a	chr6:87809547-87809561
11	CUX1	chr6:87809332-87809454	K562	blood:	n/a	chr6:87809404-87809413
12	FOXA2	chr6:87809259-87809676	HepG2	liver:	n/a	n/a
13	EP300	chr6:87809221-87809509	GM12878	blood:	n/a	n/a
14	FOXA1	chr6:87808887-87809734	HepG2	liver:	n/a	chr6:87809009-87809021
15	CEBPB	chr6:87809323-87809459	HepG2	liver:	n/a	n/a
16	ARID3A	chr6:87809160-87809725	HepG2	liver:	n/a	chr6:87809221-87809237
17	FOXA1	chr6:87808875-87809740	HepG2	liver:	n/a	chr6:87809009-87809021
18	HNF4A	chr6:87809222-87809555	HepG2	liver:	n/a	n/a
19	EP300	chr6:87809296-87809680	HepG2	liver:	n/a	chr6:87809596-87809610
20	MYBL2	chr6:87809115-87809774	HepG2	liver:	n/a	n/a
21	HNF4G	chr6:87809281-87809538	HepG2	liver:	n/a	n/a
22	SP1	chr6:87809264-87809672	HepG2	liver:	n/a	n/a
23	MXI1	chr6:87809161-87809541	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:87801966..87807159-chr6:87808251..87813913,5	K562	blood:
2	chr12:27114667..27115256-chr6:87808760..87809643,2	MCF-7	breast:

Variant related genes	Relation type
CGA	TF binding region
ENSG00000135346	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1998617	0.81[MKK][hapmap]
rs2011192	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7759783	0.87[ASN][1000 genomes]
rs9344673	0.83[ASN][1000 genomes]
rs9344674	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs981086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024751	chr6:87433199-87908721	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs981087	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs981087	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs981087	SLC35A1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87803600-87816000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:87806000-87810600	Weak transcription	Placenta	Placenta
3	chr6:87807000-87812600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:87808600-87810000	Enhancers	HepG2	liver
5	chr6:87808800-87809600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:87808800-87809800	Enhancers	Fetal Intestine Small	intestine
7	chr6:87808800-87809800	Enhancers	Hela-S3	cervix
8	chr6:87808800-87810200	Enhancers	Liver	Liver
9	chr6:87809000-87814200	Enhancers	Fetal Heart	heart
10	chr6:87809400-87810000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:87809400-87814000	Weak transcription	GM12878-XiMat	blood

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