Variant report

Variant	nsv6079
Chromosome Location	chr8:11564157-11573046
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	ARID3A	chr8:11564090-11564453	HepG2	liver:	n/a	n/a
2	BACH1	chr8:11566511-11567610	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:11565215-11565451	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:11569703-11569942	GM12878	blood:	n/a	n/a
5	CEBPB	chr8:11564153-11564461	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:11564199-11564359	HepG2	liver:	n/a	n/a
7	CHD1	chr8:11566346-11566522	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr8:11564109-11564380	HepG2	liver:	n/a	n/a
9	CTBP2	chr8:11570838-11571435	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr8:11565182-11567986	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:11565480-11565630	GM12870	blood:	n/a	n/a
12	CTCF	chr8:11565380-11565530	HUVEC	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
13	CTCF	chr8:11565404-11565529	GM20000	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
14	CTCF	chr8:11565262-11565831	SK-N-SH	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
15	CTCF	chr8:11565400-11565550	GM12867	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
16	CTCF	chr8:11565400-11565568	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
17	CTCF	chr8:11565398-11565548	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
18	CTCF	chr8:11565424-11565526	GM10248	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
19	CTCF	chr8:11565420-11565570	SAEC	small airway:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
20	CTCF	chr8:11565380-11565530	GM12874	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
21	CTCF	chr8:11565420-11565570	HPAF	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
22	CTCF	chr8:11565449-11565482	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr8:11565431-11565532	Medullo	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
24	CTCF	chr8:11565451-11565527	GM12891	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
25	CTCF	chr8:11565321-11565628	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
26	CTCF	chr8:11565420-11565570	GM12866	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
27	CTCF	chr8:11565380-11565530	HPAF	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
28	CTCF	chr8:11565300-11565450	HVMF	connective:	n/a	n/a
29	CTCF	chr8:11565380-11565559	GM12878	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
30	CTCF	chr8:11568560-11568710	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr8:11565500-11565650	GM12871	blood:	n/a	n/a
32	CTCF	chr8:11565360-11565510	HCM	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
33	CTCF	chr8:11565440-11565590	HCFaa	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
34	CTCF	chr8:11565395-11565573	H1-hESC	embryonic stem cell:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
35	CTCF	chr8:11565360-11565510	BE2_C	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
36	CTCF	chr8:11565430-11565519	GM13977	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
37	CTCF	chr8:11565419-11565557	GM10266	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
38	CTCF	chr8:11565414-11565551	GM19238	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
39	CTCF	chr8:11565462-11565502	GM19240	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
40	CTCF	chr8:11565360-11565510	HVMF	connective:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
41	CTCF	chr8:11565440-11565590	HBMEC	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
42	CTCF	chr8:11565400-11565550	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
43	CTCF	chr8:11565360-11565576	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
44	CTCF	chr8:11565360-11565510	GM12871	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
45	CTCF	chr8:11565328-11565593	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
46	CTCF	chr8:11565334-11565535	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
47	CTCF	chr8:11565440-11565590	GM12868	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
48	CTCF	chr8:11565340-11565490	HCM	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490
49	CTCF	chr8:11565400-11565550	GM12874	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
50	CTCF	chr8:11568540-11568690	HVMF	connective:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11570318-11570368	LNCaP	prostate:	n/a
2	chr8:11570318-11570368	LNCaP	prostate:	n/a
3	chr8:11566096-11566146	HNPCEpiC	eye:	n/a
4	chr8:11568356-11568406	HL-60	blood:	n/a
5	chr8:11565725-11565775	GM12891	blood:	n/a
6	chr8:11566863-11566913	H1-hESC	embryonic stem cell:	embryo
7	chr8:11566526-11566576	ECC-1	luminal epithelium:	n/a
8	chr8:11567721-11567771	PFSK-1	brain:	n/a
9	chr8:11568257-11568307	PrEC	prostate:	n/a
10	chr8:11566096-11566146	HCT-116	colon:	n/a
11	chr8:11565725-11565775	HCPEpiC	choroid plexus:	n/a
12	chr8:11565530-11565580	AG10803	skin:	n/a
13	chr8:11566526-11566576	HCPEpiC	choroid plexus:	n/a
14	chr8:11565530-11565580	RPTEC	kidney:	n/a
15	chr8:11566863-11566913	HRE	kidney:	n/a
16	chr8:11565530-11565580	HCM	heart:	n/a
17	chr8:11568356-11568406	HIPEpiC	eye:	n/a
18	chr8:11568356-11568406	GM12878	blood:	n/a
19	chr8:11567896-11567946	AG04449	skin:	fetal
20	chr8:11565277-11565327	GM12891	blood:	n/a
21	chr8:11565530-11565580	HUVEC	blood vessel:	n/a
22	chr8:11567189-11567239	HUVEC	blood vessel:	n/a
23	chr8:11568356-11568406	MCF10A-Er-Src	breast:	n/a
24	chr8:11567691-11567741	ECC-1	luminal epithelium:	n/a
25	chr8:11566096-11566146	AG09319	gingival:	n/a
26	chr8:11566526-11566576	Jurkat	blood:	n/a
27	chr8:11570318-11570368	HUVEC	blood vessel:	n/a
28	chr8:11565725-11565775	GM12892	blood:	n/a
29	chr8:11566096-11566146	HIPEpiC	eye:	n/a
30	chr8:11565530-11565580	GM12878	blood:	n/a
31	chr8:11565351-11565401	AoSMC	blood vessel:	n/a
32	chr8:11565277-11565327	A549	lung:	n/a
33	chr8:11567189-11567239	BE2_C	brain:	n/a
34	chr8:11568257-11568307	AG10803	skin:	n/a
35	chr8:11567189-11567239	GM12891	blood:	n/a
36	chr8:11567691-11567741	GM19239	blood:	n/a
37	chr8:11565530-11565580	SK-N-SH	brain:	n/a
38	chr8:11566526-11566576	HL-60	blood:	n/a
39	chr8:11566526-11566576	T-47D	breast:	n/a
40	chr8:11565725-11565775	AG09309	skin:	n/a
41	chr8:11570318-11570368	NHBE	bronchial:	n/a
42	chr8:11568257-11568307	Hepatocyte	liver:	n/a
43	chr8:11567721-11567771	NB4	blood:	n/a
44	chr8:11568356-11568406	A549	lung:	n/a
45	chr8:11565530-11565580	NHDF-neo	bronchial:	n/a
46	chr8:11568356-11568406	HUVEC	blood vessel:	n/a
47	chr8:11565725-11565775	AG10803	skin:	n/a
48	chr8:11568257-11568307	HMEC	breast:	n/a
49	chr8:11565351-11565401	SK-N-MC	brain:	n/a
50	chr8:11565530-11565580	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr8:11570475..11571255-chr8:11587947..11588507,3	MCF-7	breast:
2	chr8:11569983..11572181-chr8:11572898..11575500,3	K562	blood:
3	chr8:11569396..11573726-chr8:11575318..11577927,4	MCF-7	breast:
4	chr8:11570409..11571041-chr8:11587922..11588483,3	MCF-7	breast:
5	chr8:11418474..11420140-chr8:11572245..11574135,2	K562	blood:
6	chr8:11570486..11572575-chr8:11576211..11578134,2	K562	blood:
7	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:
8	chr8:11569983..11572181-chr8:11572898..11575500,3	K562	blood:

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

Extended variants
information (count: 374 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559032059	chr8:11564160-11564161	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529597687	chr8:11564174-11564175	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184672044	chr8:11564276-11564277	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563403599	chr8:11564284-11564285	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530870811	chr8:11564397-11564398	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552067136	chr8:11564413-11564414	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs189085980	chr8:11564428-11564429	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367769597	chr8:11564466-11564467	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570710055	chr8:11564471-11564472	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4269498	chr8:11564479-11564480	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532292951	chr8:11564535-11564536	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182540546	chr8:11564741-11564742	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375780318	chr8:11564813-11564814	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577041742	chr8:11564818-11564819	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs74927592	chr8:11564825-11564826	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34913959	chr8:11564827-11564828	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs78847461	chr8:11564828-11564829	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs75206447	chr8:11564829-11564830	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76175803	chr8:11564839-11564840	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs74703252	chr8:11564840-11564841	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535819238	chr8:11564873-11564874	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs146852216	chr8:11564879-11564880	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113051831	chr8:11564923-11564924	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs386722295	chr8:11564926-11564927	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189141573	chr8:11564927-11564928	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558445669	chr8:11564933-11564934	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540153097	chr8:11564970-11564971	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181573260	chr8:11564981-11564982	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10088151	chr8:11565087-11565088	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs528229502	chr8:11565099-11565100	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534128979	chr8:11565104-11565105	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552622576	chr8:11565112-11565113	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145427837	chr8:11565146-11565147	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541446574	chr8:11565166-11565167	Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3808376	chr8:11565225-11565226	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547983273	chr8:11565253-11565254	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185829005	chr8:11565271-11565272	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546122504	chr8:11565324-11565325	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
39	rs564378204	chr8:11565332-11565333	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:140)

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
Gastric cancer	17229543	CNVD
Disorders of sex development	22290220	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

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	chr8:11563000-11565000	Flanking Active TSS	Liver	Liver
8	chr8:11563200-11564200	Weak transcription	Pancreas	Pancrea
9	chr8:11563200-11564400	Active TSS	HepG2	liver
10	chr8:11563200-11565000	Weak transcription	Gastric	stomach
11	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:11563400-11564200	Weak transcription	Left Ventricle	heart
14	chr8:11563600-11565800	Active TSS	Fetal Heart	heart
15	chr8:11563800-11564200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr8:11563800-11564600	Weak transcription	Stomach Mucosa	stomach
17	chr8:11564000-11564200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11564200-11564400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:11564200-11564400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:11564200-11564800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
21	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
22	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
23	chr8:11564400-11564600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11564400-11564600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr8:11564400-11564800	Flanking Active TSS	HepG2	liver
26	chr8:11564400-11565400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:11564600-11565000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:11564600-11565200	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr8:11564600-11565200	Active TSS	Stomach Mucosa	stomach
30	chr8:11564800-11565400	Enhancers	HepG2	liver
31	chr8:11564800-11565800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr8:11564800-11567000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr8:11564800-11567200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:11565000-11565400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11565000-11565400	Active TSS	Gastric	stomach
36	chr8:11565000-11565600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:11565000-11565800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr8:11565000-11566000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:11565000-11566000	Enhancers	Liver	Liver
40	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:11565200-11565400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr8:11565200-11565400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr8:11565200-11565400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr8:11565200-11565600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr8:11565200-11565600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:11565200-11565600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr8:11565200-11565800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:11565200-11565800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr8:11565200-11565800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr8:11565200-11565800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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