Variant report

Variant	esv3358052
Chromosome Location	chr4:568427-571250
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	chr4:570358-570603	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:569194-569394	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:570852-571471	H1-hESC	embryonic stem cell:	n/a	chr4:571444-571458
4	CHD1	chr4:569385-569452	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr4:570834-571856	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr4:570237-570616	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:569154-569260	NHEK	skin:	n/a	n/a
8	CTCF	chr4:569120-569270	HCPEpiC	choroid plexus:	n/a	chr4:569137-569150
9	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
10	FOSL2	chr4:571222-571667	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571446-571457
11	FOXP2	chr4:571145-571655	PFSK-1	brain:	n/a	n/a
12	FOXP2	chr4:570758-571006	SK-N-MC	brain:	n/a	n/a
13	FOXP2	chr4:570173-570487	SK-N-MC	brain:	n/a	n/a
14	FOXP2	chr4:570791-571021	PFSK-1	brain:	n/a	n/a
15	GABPA	chr4:571219-571670	H1-hESC	embryonic stem cell:	n/a	n/a
16	HDAC2	chr4:570342-570608	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUN	chr4:571155-571567	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455
18	JUND	chr4:570836-571681	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
19	KAP1	chr4:571118-572058	HEK293	kidney:	n/a	chr4:571445-571454
20	KAP1	chr4:570961-571637	U2OS	brain:	n/a	chr4:571445-571454
21	MAFK	chr4:570867-570996	IMR90	lung:	n/a	n/a
22	MAX	chr4:569061-569321	SK-N-SH	brain:	n/a	n/a
23	MAX	chr4:569027-569418	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr4:570795-571716	NB4	blood:	n/a	chr4:571238-571247
25	MAX	chr4:568478-569455	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
26	MAX	chr4:568444-568978	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
27	MAX	chr4:569031-569384	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr4:569042-569452	ECC-1	luminal epithelium:	n/a	n/a
29	MAZ	chr4:569071-569497	IMR90	lung:	n/a	n/a
30	MXI1	chr4:569053-569451	IMR90	lung:	n/a	n/a
31	MXI1	chr4:570895-571124	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr4:569095-569346	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr4:568483-568592	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568549-568557
34	MYC	chr4:571109-571610	MCF10A-Er-Src	breast:	n/a	chr4:571238-571247
35	MYC	chr4:570823-571673	NB4	blood:	n/a	chr4:571238-571247
36	POLR2A	chr4:568373-568989	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr4:569134-569306	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr4:570180-570666	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr4:570772-571687	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr4:568722-570035	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr4:570134-570593	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr4:570208-570633	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr4:570768-572264	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr4:570130-570658	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr4:570754-571686	PFSK-1	brain:	n/a	n/a
47	RAD21	chr4:569045-569437	ECC-1	luminal epithelium:	n/a	n/a
48	REST	chr4:568983-572510	H1-neurons	neurons:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:570373-570386 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:570404-570417 chr4:571320-571333 chr4:570810-570820 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:571381-571394 chr4:569243-569263 chr4:570817-570830 chr4:569248-569257 chr4:569249-569263 chr4:571378-571391 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
49	REST	chr4:568516-569842	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:568592-568605 chr4:569728-569741 chr4:569246-569259 chr4:568580-568593 chr4:569243-569256 chr4:569731-569744
50	REST	chr4:569076-569364	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:569174-569224	GM12891	blood:	n/a
2	chr4:571042-571092	LNCaP	prostate:	n/a
3	chr4:569174-569224	U87	brain:	n/a
4	chr4:571042-571092	U87	brain:	n/a
5	chr4:568514-568564	HIPEpiC	eye:	n/a
6	chr4:571042-571092	AG04449	skin:	fetal
7	chr4:568514-568564	HCT-116	colon:	n/a
8	chr4:569174-569224	Jurkat	blood:	n/a
9	chr4:571042-571092	HRCEpiC	kidney:	n/a
10	chr4:571090-571140	HEK293	kidney:	embryo
11	chr4:568514-568564	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:569174-569224	GM19239	blood:	n/a
13	chr4:571090-571140	SAEC	small airway:	n/a
14	chr4:571042-571092	HepG2	liver:	n/a
15	chr4:570361-570411	BE2_C	brain:	n/a
16	chr4:569174-569224	IMR90	lung:	fetal
17	chr4:570361-570411	SAEC	small airway:	n/a
18	chr4:571090-571140	HCPEpiC	choroid plexus:	n/a
19	chr4:571042-571092	NT2-D1	testis:	n/a
20	chr4:571042-571092	A549	lung:	n/a
21	chr4:571042-571092	HIPEpiC	eye:	n/a
22	chr4:570361-570411	Hela-S3	cervix:	n/a
23	chr4:570361-570411	HepG2	liver:	n/a
24	chr4:571090-571140	RPTEC	kidney:	n/a
25	chr4:568514-568564	PANC-1	pancreas:	n/a
26	chr4:568514-568564	HCF	heart:	n/a
27	chr4:570361-570411	H1-hESC	embryonic stem cell:	embryo
28	chr4:570361-570411	ProgFib	skin:	n/a
29	chr4:571042-571092	HL-60	blood:	n/a
30	chr4:571120-571170	HAEpiC	amniotic membrane:	n/a
31	chr4:571090-571140	HEEpiC	esophagus:	n/a
32	chr4:568514-568564	SKMC	muscle:	n/a
33	chr4:571120-571170	HepG2	liver:	n/a
34	chr4:569174-569224	AG10803	skin:	n/a
35	chr4:571090-571140	T-47D	breast:	n/a
36	chr4:571090-571140	HCM	heart:	n/a
37	chr4:571042-571092	AG09319	gingival:	n/a
38	chr4:568514-568564	ProgFib	skin:	n/a
39	chr4:571042-571092	HRPEpiC	eye:	n/a
40	chr4:571090-571140	HAEpiC	amniotic membrane:	n/a
41	chr4:570361-570411	ovcar-3	ovarian:	n/a
42	chr4:571120-571170	ECC-1	luminal epithelium:	n/a
43	chr4:569174-569224	BJ	skin:	n/a
44	chr4:570361-570411	GM19239	blood:	n/a
45	chr4:571042-571092	SK-N-SH	brain:	n/a
46	chr4:569174-569224	HRPEpiC	eye:	n/a
47	chr4:571090-571140	SK-N-MC	brain:	n/a
48	chr4:571042-571092	HEK293	kidney:	embryo
49	chr4:571120-571170	PrEC	prostate:	n/a
50	chr4:571042-571092	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:564165..566404-chr4:569838..571549,2	K562	blood:
2	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
3	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:
4	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
2	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572
3	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
4	lnc-PIGG-1	chr4:562509-568807	l_2577_chr4:560751-568807_brain
5	lnc-PDE6B-1	chr4:570826-571223	NONHSAT094574
6	lnc-PDE6B-1	chr4:570359-570550	NONHSAT094567
7	lnc-PDE6B-1	chr4:571079-572650	NONHSAT094567
8	lnc-PDE6B-1	chr4:570919-571223	XLOC_003411
9	lnc-PDE6B-1	chr4:570957-572108	ENSG00000256961

Variant related genes	Relation type
ENSG00000273238	TF binding region
ENSG00000273238	CpG island

Extended variants
information (count: 53 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557690584	chr4:568457-568458	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs375390576	chr4:568474-568475	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs538997870	chr4:568494-568495	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs576215411	chr4:568502-568503	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs536935500	chr4:568521-568522	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs555679270	chr4:568531-568532	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs573253678	chr4:568543-568544	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs540634778	chr4:568595-568596	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs77207618	chr4:568639-568640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs577338367	chr4:568671-568672	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs545115188	chr4:568693-568694	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs564504819	chr4:568748-568749	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs374903857	chr4:568877-568878	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531974511	chr4:568931-568932	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550206332	chr4:569030-569031	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562411478	chr4:569137-569138	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs529266833	chr4:569143-569144	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547828291	chr4:569283-569284	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566150835	chr4:569332-569333	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539919198	chr4:569333-569334	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551887413	chr4:569353-569354	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569745712	chr4:569471-569472	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537253488	chr4:569479-569480	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188202960	chr4:569498-569499	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573613857	chr4:569672-569673	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553954384	chr4:570022-570023	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531659290	chr4:570025-570026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs192300086	chr4:570091-570092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184855414	chr4:570133-570134	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs534288417	chr4:570214-570215	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79396532	chr4:570222-570223	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs546669182	chr4:570259-570260	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140080269	chr4:570288-570289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs115298135	chr4:570292-570293	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544765948	chr4:570333-570334	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376946267	chr4:570345-570346	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4516657	chr4:570398-570399	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs563445633	chr4:570524-570525	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs576515484	chr4:570563-570564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544007304	chr4:570631-570632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4420926	chr4:570646-570647	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569077439	chr4:570740-570741	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200759058	chr4:570819-570820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs529635813	chr4:570830-570831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs541774554	chr4:570928-570929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs559768879	chr4:570932-570933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs533409733	chr4:570941-570942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs552218338	chr4:571039-571040	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs181854182	chr4:571059-571060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs186422466	chr4:571061-571062	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:566200-568600	Weak transcription	Gastric	stomach
2	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
3	chr4:567400-568800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:568200-568600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr4:568200-568600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:568200-568600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr4:568200-568600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:568200-568600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr4:568200-568600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr4:568200-568600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:568200-568600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr4:568200-568600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr4:568200-568800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr4:568200-568800	Bivalent Enhancer	Fetal Brain Male	brain
17	chr4:568200-568800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:568200-569000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
23	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
24	chr4:568400-568600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:568400-568600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr4:568400-568600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:568400-568600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:568400-568600	Bivalent Enhancer	Liver	Liver
29	chr4:568400-568600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr4:568400-568800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:568400-568800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr4:568400-568800	Bivalent Enhancer	Right Ventricle	heart
33	chr4:568400-569000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:568400-569000	Bivalent Enhancer	Ovary	ovary
35	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
38	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:568600-568800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr4:568600-568800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:568600-568800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr4:568600-568800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:568600-568800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr4:568600-568800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:568600-568800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:568600-568800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:568600-568800	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr4:568600-568800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr4:568600-568800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr4:568600-568800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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