Variant report

Variant	esv3415599
Chromosome Location	chr8:11565343-11567591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:11565215-11565451	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:11566511-11567610	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr8:11566346-11566522	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr8:11565182-11567986	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:11565400-11565550	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
6	CTCF	chr8:11565480-11565630	GM12870	blood:	n/a	n/a
7	CTCF	chr8:11565420-11565570	SAEC	small airway:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
8	CTCF	chr8:11565400-11565550	GM12874	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
9	CTCF	chr8:11565424-11565526	GM10248	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
10	CTCF	chr8:11565406-11565581	Pancreas_OC	pancreas:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
11	CTCF	chr8:11565380-11565530	HPAF	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
12	CTCF	chr8:11565380-11565530	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
13	CTCF	chr8:11565420-11565570	HPAF	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
14	CTCF	chr8:11565400-11565568	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
15	CTCF	chr8:11565360-11565510	HVMF	connective:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
16	CTCF	chr8:11565360-11565576	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
17	CTCF	chr8:11565360-11565510	HCM	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
18	CTCF	chr8:11565462-11565502	GM19240	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
19	CTCF	chr8:11565480-11565630	HRE	kidney:	n/a	n/a
20	CTCF	chr8:11565262-11565831	SK-N-SH	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
21	CTCF	chr8:11565404-11565529	GM20000	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
22	CTCF	chr8:11565300-11565450	HVMF	connective:	n/a	n/a
23	CTCF	chr8:11565500-11565650	GM12871	blood:	n/a	n/a
24	CTCF	chr8:11565430-11565519	GM13977	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
25	CTCF	chr8:11565380-11565530	HUVEC	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
26	CTCF	chr8:11565400-11565550	HRPEpiC	eye:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
27	CTCF	chr8:11565451-11565527	GM12891	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
28	CTCF	chr8:11565330-11565617	H1-hESC	embryonic stem cell:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
29	CTCF	chr8:11565398-11565548	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
30	CTCF	chr8:11565400-11565550	GM12867	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
31	CTCF	chr8:11565440-11565590	GM12868	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
32	CTCF	chr8:11565395-11565573	H1-hESC	embryonic stem cell:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
33	CTCF	chr8:11565420-11565570	GM12866	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
34	CTCF	chr8:11565440-11565590	GM12875	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
35	CTCF	chr8:11565440-11565590	HBMEC	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
36	CTCF	chr8:11565340-11565490	HCM	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490
37	CTCF	chr8:11565380-11565530	BE2_C	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
38	CTCF	chr8:11565368-11565620	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
39	CTCF	chr8:11565431-11565532	Medullo	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
40	CTCF	chr8:11565449-11565482	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr8:11565328-11565593	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
42	CTCF	chr8:11565321-11565628	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
43	CTCF	chr8:11565380-11565559	GM12878	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
44	CTCF	chr8:11565460-11565610	AG04449	skin:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
45	CTCF	chr8:11565440-11565590	HCFaa	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
46	CTCF	chr8:11565360-11565510	BE2_C	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
47	CTCF	chr8:11565360-11565510	GM12871	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
48	CTCF	chr8:11565414-11565551	GM19238	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
49	CTCF	chr8:11565419-11565557	GM10266	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
50	CTCF	chr8:11565444-11565540	GM19239	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11566863-11566913	AG10803	skin:	n/a
2	chr8:11565351-11565401	MCF-7	breast:	n/a
3	chr8:11567189-11567239	PANC-1	pancreas:	n/a
4	chr8:11565351-11565401	MCF10A-Er-Src	breast:	n/a
5	chr8:11566863-11566913	AG10803	skin:	n/a
6	chr8:11565351-11565401	MCF-7	breast:	n/a
7	chr8:11567189-11567239	PANC-1	pancreas:	n/a
8	chr8:11565351-11565401	MCF10A-Er-Src	breast:	n/a
9	chr8:11566863-11566913	T-47D	breast:	n/a
10	chr8:11565725-11565775	GM19239	blood:	n/a
11	chr8:11566096-11566146	Hepatocyte	liver:	n/a
12	chr8:11567189-11567239	SK-N-SH_RA	brain:	n/a
13	chr8:11565530-11565580	NB4	blood:	n/a
14	chr8:11566096-11566146	HCPEpiC	choroid plexus:	n/a
15	chr8:11566863-11566913	SAEC	small airway:	n/a
16	chr8:11565351-11565401	NHDF-neo	bronchial:	n/a
17	chr8:11565725-11565775	SK-N-MC	brain:	n/a
18	chr8:11566096-11566146	GM12878	blood:	n/a
19	chr8:11566096-11566146	T-47D	breast:	n/a
20	chr8:11566863-11566913	MCF10A-Er-Src	breast:	n/a
21	chr8:11565530-11565580	SK-N-MC	brain:	n/a
22	chr8:11567189-11567239	SAEC	small airway:	n/a
23	chr8:11567189-11567239	RPTEC	kidney:	n/a
24	chr8:11565530-11565580	AG10803	skin:	n/a
25	chr8:11565530-11565580	BE2_C	brain:	n/a
26	chr8:11566096-11566146	Jurkat	blood:	n/a
27	chr8:11565530-11565580	A549	lung:	n/a
28	chr8:11567189-11567239	HNPCEpiC	eye:	n/a
29	chr8:11567189-11567239	MCF-7	breast:	n/a
30	chr8:11565351-11565401	HCF	heart:	n/a
31	chr8:11565725-11565775	NHBE	bronchial:	n/a
32	chr8:11566096-11566146	HEK293	kidney:	embryo
33	chr8:11566526-11566576	MCF10A-Er-Src	breast:	n/a
34	chr8:11565530-11565580	AoSMC	blood vessel:	n/a
35	chr8:11566863-11566913	HL-60	blood:	n/a
36	chr8:11565725-11565775	Caco-2	colon:	n/a
37	chr8:11566863-11566913	AG04449	skin:	fetal
38	chr8:11566526-11566576	NB4	blood:	n/a
39	chr8:11565530-11565580	NH-A	brain:	n/a
40	chr8:11566096-11566146	HMEC	breast:	n/a
41	chr8:11565530-11565580	Hepatocyte	liver:	n/a
42	chr8:11566863-11566913	SKMC	muscle:	n/a
43	chr8:11566096-11566146	BE2_C	brain:	n/a
44	chr8:11565725-11565775	PrEC	prostate:	n/a
45	chr8:11567189-11567239	SKMC	muscle:	n/a
46	chr8:11565725-11565775	HCT-116	colon:	n/a
47	chr8:11567189-11567239	AG04449	skin:	fetal
48	chr8:11565530-11565580	ECC-1	luminal epithelium:	n/a
49	chr8:11566863-11566913	BJ	skin:	n/a
50	chr8:11567189-11567239	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:

Variant related genes	Relation type
GATA4	TF binding region
GATA4	CpG island
ENSG00000136574	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528245399	chr8:11565352-11565353	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs567836172	chr8:11565468-11565469	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188728571	chr8:11565477-11565478	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529421999	chr8:11565509-11565510	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550677426	chr8:11565511-11565512	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs114658939	chr8:11565516-11565517	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539459902	chr8:11565520-11565521	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368418329	chr8:11565528-11565529	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566846255	chr8:11565537-11565538	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs534093280	chr8:11565547-11565548	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs561017894	chr8:11565561-11565562	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs530224392	chr8:11565639-11565640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555576255	chr8:11565641-11565642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574175077	chr8:11565666-11565667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150620202	chr8:11565708-11565709	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556675919	chr8:11565712-11565713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575132739	chr8:11565725-11565726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs545481791	chr8:11565734-11565735	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs564341909	chr8:11565736-11565737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs181192083	chr8:11565744-11565745	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573187875	chr8:11565745-11565746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540411970	chr8:11565796-11565797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561891808	chr8:11565801-11565802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529365266	chr8:11565810-11565811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371301441	chr8:11565813-11565814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374132087	chr8:11565829-11565830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55670878	chr8:11565834-11565835	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55635838	chr8:11565836-11565837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199922907	chr8:11565838-11565839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533331682	chr8:11565867-11565868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1139240	chr8:11565876-11565877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551378949	chr8:11565881-11565882	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202213149	chr8:11565883-11565884	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534250566	chr8:11565904-11565905	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549164979	chr8:11565905-11565906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567891764	chr8:11565914-11565915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56166237	chr8:11565920-11565921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1139241	chr8:11565936-11565937	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs387906770	chr8:11565948-11565949	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1139242	chr8:11565965-11565966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570058215	chr8:11565970-11565971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs104894074	chr8:11565976-11565977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1139244	chr8:11566017-11566018	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556967140	chr8:11566044-11566045	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs56191129	chr8:11566099-11566100	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568879690	chr8:11566163-11566164	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539403410	chr8:11566168-11566169	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs56348550	chr8:11566283-11566284	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs387906769	chr8:11566308-11566309	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540578824	chr8:11566309-11566310	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
3	chr8:11561200-11565400	Active TSS	Ovary	ovary
4	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:11561800-11565400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
8	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:11563600-11565800	Active TSS	Fetal Heart	heart
10	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
11	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
12	chr8:11564400-11565400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:11564800-11565400	Enhancers	HepG2	liver
14	chr8:11564800-11565800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr8:11564800-11567000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr8:11564800-11567200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:11565000-11565400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11565000-11565400	Active TSS	Gastric	stomach
19	chr8:11565000-11565600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:11565000-11565800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr8:11565000-11566000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:11565000-11566000	Enhancers	Liver	Liver
23	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11565200-11565400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr8:11565200-11565400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr8:11565200-11565400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr8:11565200-11565600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr8:11565200-11565600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11565200-11565600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:11565200-11565800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:11565200-11565800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr8:11565200-11565800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr8:11565200-11565800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:11565200-11566000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:11565200-11566000	Bivalent Enhancer	Lung	lung
38	chr8:11565200-11566000	Bivalent/Poised TSS	Stomach Mucosa	stomach
39	chr8:11565200-11566200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:11565200-11566200	Bivalent Enhancer	Spleen	Spleen
41	chr8:11565400-11565600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
42	chr8:11565400-11565600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr8:11565400-11565600	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr8:11565400-11565600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:11565400-11565600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr8:11565400-11565800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:11565400-11565800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:11565400-11565800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:11565400-11565800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr8:11565400-11565800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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