Variant report

Variant	esv3370778
Chromosome Location	chr4:7940277-7942825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:854)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:7942802-7942916	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:7940212-7941701	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr4:7941250-7941705	K562	blood:	n/a	n/a
4	CCNT2	chr4:7940820-7940941	K562	blood:	n/a	n/a
5	CEBPB	chr4:7940856-7940967	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr4:7941344-7941649	HepG2	liver:	n/a	n/a
7	CHD1	chr4:7938516-7942221	IMR90	lung:	n/a	n/a
8	CHD2	chr4:7941395-7941935	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr4:7941238-7941870	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr4:7941369-7941800	HepG2	liver:	n/a	n/a
11	CREB1	chr4:7941438-7941826	A549	lung:	n/a	n/a
12	CTBP2	chr4:7940516-7941267	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:7940660-7940810	AG09319	gingival:	n/a	n/a
14	CTCF	chr4:7940620-7940770	HCM	heart:	n/a	n/a
15	CTCF	chr4:7940180-7940330	AG04450	lung:	n/a	n/a
16	CTCF	chr4:7940820-7940970	SAEC	small airway:	n/a	n/a
17	CTCF	chr4:7940605-7940854	IMR90	lung:	n/a	n/a
18	CTCF	chr4:7940731-7940752	NHEK	skin:	n/a	n/a
19	CTCF	chr4:7940700-7940850	HRE	kidney:	n/a	n/a
20	CTCF	chr4:7940680-7940830	AG04449	skin:	n/a	n/a
21	CTCF	chr4:7940780-7940930	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr4:7940759-7940824	Fibrobl	skin:	n/a	n/a
23	CTCF	chr4:7940705-7940821	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:7940960-7941110	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr4:7942680-7942830	GM12867	blood:	n/a	n/a
26	CTCF	chr4:7940600-7940750	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr4:7940753-7940829	NHEK	skin:	n/a	n/a
28	CTCF	chr4:7940736-7940837	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:7940500-7940650	WERI-Rb-1	eye:	n/a	n/a
30	E2F4	chr4:7940023-7940610	MCF10A-Er-Src	breast:	n/a	chr4:7940388-7940395 chr4:7940384-7940395 chr4:7940387-7940395 chr4:7940383-7940395 chr4:7940386-7940396 chr4:7940387-7940395 chr4:7940385-7940396
31	E2F4	chr4:7941623-7941823	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr4:7940815-7940997	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F6	chr4:7941298-7941659	K562	blood:	n/a	n/a
34	E2F6	chr4:7941338-7941518	K562	blood:	n/a	n/a
35	EGR1	chr4:7941529-7941794	K562	blood:	n/a	n/a
36	EP300	chr4:7941545-7941602	K562	blood:	n/a	n/a
37	EP300	chr4:7942811-7943152	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr4:7942782-7943218	MCF-7	breast:	n/a	n/a
39	EP300	chr4:7942642-7943632	ECC-1	luminal epithelium:	n/a	n/a
40	ESR1	chr4:7942798-7943234	ECC-1	luminal epithelium:	n/a	n/a
41	ESR1	chr4:7942782-7943189	ECC-1	luminal epithelium:	n/a	n/a
42	ETS1	chr4:7941357-7941520	K562	blood:	n/a	n/a
43	FOXP2	chr4:7941404-7941810	PFSK-1	brain:	n/a	n/a
44	GABPA	chr4:7941210-7941619	H1-hESC	embryonic stem cell:	n/a	n/a
45	GATA3	chr4:7942688-7943385	MCF-7	breast:	n/a	n/a
46	GATA3	chr4:7942635-7943394	MCF-7	breast:	n/a	n/a
47	GTF2F1	chr4:7941399-7941541	H1-hESC	embryonic stem cell:	n/a	n/a
48	HDAC2	chr4:7940601-7941196	MCF-7	breast:	n/a	n/a
49	HDAC2	chr4:7941186-7941652	H1-hESC	embryonic stem cell:	n/a	n/a
50	HDAC2	chr4:7941190-7941893	HepG2	liver:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7941894-7941944	GM12892	blood:	n/a
2	chr4:7942031-7942081	MCF-7	breast:	n/a
3	chr4:7942031-7942081	ProgFib	skin:	n/a
4	chr4:7941837-7941887	SK-N-SH_RA	brain:	n/a
5	chr4:7941792-7941842	Caco-2	colon:	n/a
6	chr4:7940375-7940425	MCF10A-Er-Src	breast:	n/a
7	chr4:7940389-7940439	HMEC	breast:	n/a
8	chr4:7941792-7941842	T-47D	breast:	n/a
9	chr4:7941837-7941887	Caco-2	colon:	n/a
10	chr4:7941837-7941887	ProgFib	skin:	n/a
11	chr4:7941837-7941887	HAEpiC	amniotic membrane:	n/a
12	chr4:7942020-7942070	AG04449	skin:	fetal
13	chr4:7941837-7941887	HNPCEpiC	eye:	n/a
14	chr4:7942031-7942081	AG09309	skin:	n/a
15	chr4:7942020-7942070	HEEpiC	esophagus:	n/a
16	chr4:7941823-7941873	K562	blood:	n/a
17	chr4:7941764-7941814	HUVEC	blood vessel:	n/a
18	chr4:7942020-7942070	AG09319	gingival:	n/a
19	chr4:7941837-7941887	HEK293	kidney:	embryo
20	chr4:7940579-7940629	HCPEpiC	choroid plexus:	n/a
21	chr4:7941431-7941481	ovcar-3	ovarian:	n/a
22	chr4:7941764-7941814	ProgFib	skin:	n/a
23	chr4:7942020-7942070	RPTEC	kidney:	n/a
24	chr4:7940843-7940893	HL-60	blood:	n/a
25	chr4:7941852-7941902	T-47D	breast:	n/a
26	chr4:7942020-7942070	HMEC	breast:	n/a
27	chr4:7940426-7940476	BE2_C	brain:	n/a
28	chr4:7941852-7941902	SK-N-SH	brain:	n/a
29	chr4:7941823-7941873	PFSK-1	brain:	n/a
30	chr4:7940426-7940476	PANC-1	pancreas:	n/a
31	chr4:7941894-7941944	HAEpiC	amniotic membrane:	n/a
32	chr4:7941823-7941873	HNPCEpiC	eye:	n/a
33	chr4:7941852-7941902	HepG2	liver:	n/a
34	chr4:7941852-7941902	H1-hESC	embryonic stem cell:	embryo
35	chr4:7941764-7941814	NT2-D1	testis:	n/a
36	chr4:7940375-7940425	BE2_C	brain:	n/a
37	chr4:7942031-7942081	AoSMC	blood vessel:	n/a
38	chr4:7940389-7940439	HRPEpiC	eye:	n/a
39	chr4:7940375-7940425	HL-60	blood:	n/a
40	chr4:7941894-7941944	BJ	skin:	n/a
41	chr4:7941823-7941873	GM12891	blood:	n/a
42	chr4:7941792-7941842	NB4	blood:	n/a
43	chr4:7942020-7942070	NH-A	brain:	n/a
44	chr4:7941431-7941481	HRCEpiC	kidney:	n/a
45	chr4:7941431-7941481	NT2-D1	testis:	n/a
46	chr4:7941792-7941842	PFSK-1	brain:	n/a
47	chr4:7940375-7940425	T-47D	breast:	n/a
48	chr4:7942031-7942081	GM06990	blood:	n/a
49	chr4:7941894-7941944	NHBE	bronchial:	n/a
50	chr4:7941431-7941481	PANC-1	pancreas:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7799366..7802066-chr4:7938906..7941900,2	MCF-7	breast:
2	chr4:7805902..7806736-chr4:7939845..7940494,2	MCF-7	breast:

No data

Variant related genes	Relation type
AFAP1	TF binding region
ENSG00000228919	TF binding region
AFAP1	CpG island
ENSG00000228919	CpG island
ENSG00000196526	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569886425	chr4:7940291-7940292	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs79807020	chr4:7940345-7940346	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373159115	chr4:7940349-7940350	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527337641	chr4:7940403-7940404	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557682139	chr4:7940422-7940423	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573031318	chr4:7940434-7940435	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs6847771	chr4:7940439-7940440	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186879318	chr4:7940451-7940452	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534771472	chr4:7940471-7940472	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574125838	chr4:7940509-7940510	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544267022	chr4:7940582-7940583	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs58032724	chr4:7940590-7940591	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs151254340	chr4:7940603-7940604	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34740645	chr4:7940606-7940607	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114147616	chr4:7940621-7940622	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527876227	chr4:7940629-7940630	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112519897	chr4:7940652-7940653	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561429258	chr4:7940654-7940655	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189759623	chr4:7940679-7940680	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112934262	chr4:7940685-7940686	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371007306	chr4:7940716-7940717	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7669433	chr4:7940741-7940742	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539358146	chr4:7940781-7940782	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551621439	chr4:7940784-7940785	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551652846	chr4:7940786-7940787	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373380117	chr4:7940808-7940809	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557305308	chr4:7940811-7940812	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7695142	chr4:7940857-7940858	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533968959	chr4:7940900-7940901	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7695170	chr4:7940903-7940904	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs7669645	chr4:7940915-7940916	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538311181	chr4:7940989-7940990	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556299219	chr4:7940993-7940994	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577930008	chr4:7940994-7940995	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545381417	chr4:7940997-7940998	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560404370	chr4:7940998-7940999	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572339253	chr4:7941045-7941046	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542790598	chr4:7941130-7941131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561116801	chr4:7941143-7941144	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528992903	chr4:7941223-7941224	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140694812	chr4:7941232-7941233	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562344910	chr4:7941317-7941318	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60272249	chr4:7941318-7941319	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs58349148	chr4:7941346-7941347	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566760602	chr4:7941380-7941381	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527512134	chr4:7941387-7941388	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549223571	chr4:7941398-7941399	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17852983	chr4:7941423-7941424	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567421824	chr4:7941452-7941453	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537962975	chr4:7941467-7941468	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7937800-7941800	Active TSS	A549	lung
2	chr4:7938200-7941800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:7938800-7941800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:7938800-7941800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:7938800-7941800	Active TSS	NHDF-Ad	bronchial
6	chr4:7939000-7941800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:7939200-7941800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:7939200-7941800	Active TSS	NH-A	brain
9	chr4:7939200-7941800	Active TSS	Osteobl	bone
10	chr4:7939200-7942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7939400-7941200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr4:7939400-7941800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7939400-7941800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:7939400-7942000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:7939600-7940400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:7939600-7940400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr4:7939600-7940400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:7939600-7940400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr4:7939600-7940400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr4:7939600-7940400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:7939600-7940400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr4:7939600-7940400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:7939600-7940400	Flanking Active TSS	Fetal Brain Male	brain
24	chr4:7939600-7940400	Flanking Active TSS	HUVEC	blood vessel
25	chr4:7939600-7940600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr4:7939600-7940600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:7939600-7940600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr4:7939600-7940600	Flanking Active TSS	NHEK	skin
29	chr4:7939600-7941600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr4:7939600-7942000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:7939600-7942000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:7939600-7942000	Active TSS	Aorta	Aorta
33	chr4:7939800-7940400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7939800-7940400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:7939800-7940400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:7939800-7940400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr4:7939800-7940400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:7939800-7940400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr4:7939800-7940400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr4:7939800-7940400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr4:7939800-7940400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr4:7939800-7940400	Bivalent Enhancer	Spleen	Spleen
43	chr4:7939800-7940400	Flanking Active TSS	HepG2	liver
44	chr4:7939800-7940600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:7939800-7940600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:7939800-7940600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:7939800-7940800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr4:7939800-7941000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr4:7939800-7941200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:7939800-7941600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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