Variant report

Variant	esv3339025
Chromosome Location	chr4:569577-572125
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	ATF3	chr4:571337-571558	K562	blood:	n/a	n/a
2	BACH1	chr4:570852-571471	H1-hESC	embryonic stem cell:	n/a	chr4:571444-571458
3	BACH1	chr4:570358-570603	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr4:571515-571533	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:571989-572090	HepG2	liver:	n/a	n/a
6	CTBP2	chr4:570834-571856	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr4:570237-570616	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:571360-571510	AG04449	skin:	n/a	n/a
9	E2F4	chr4:571401-571466	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr4:571395-571444	HepG2	liver:	n/a	n/a
11	FOS	chr4:571272-571615	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
12	FOS	chr4:571268-571615	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
13	FOS	chr4:571277-571654	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
14	FOS	chr4:571288-571573	HUVEC	blood vessel:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
15	FOS	chr4:571268-571617	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
16	FOSL1	chr4:571316-571533	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
17	FOSL1	chr4:571280-571648	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
18	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
19	FOSL2	chr4:571342-571597	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
20	FOXP2	chr4:571145-571655	PFSK-1	brain:	n/a	n/a
21	FOXP2	chr4:570173-570487	SK-N-MC	brain:	n/a	n/a
22	FOXP2	chr4:570791-571021	PFSK-1	brain:	n/a	n/a
23	FOXP2	chr4:570758-571006	SK-N-MC	brain:	n/a	n/a
24	GABPA	chr4:571219-571670	H1-hESC	embryonic stem cell:	n/a	n/a
25	HDAC2	chr4:570342-570608	H1-hESC	embryonic stem cell:	n/a	n/a
26	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
27	JUND	chr4:571312-571526	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
28	JUND	chr4:571327-571581	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
29	JUND	chr4:571311-571570	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
30	JUND	chr4:571377-571544	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
31	JUND	chr4:571271-571608	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
32	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
33	JUND	chr4:571269-571607	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
34	KAP1	chr4:571118-572058	HEK293	kidney:	n/a	chr4:571445-571454
35	KAP1	chr4:570961-571637	U2OS	brain:	n/a	chr4:571445-571454
36	MAFF	chr4:571476-571490	HepG2	liver:	n/a	n/a
37	MAFK	chr4:570867-570996	IMR90	lung:	n/a	n/a
38	MAFK	chr4:571374-571396	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr4:570795-571716	NB4	blood:	n/a	chr4:571238-571247
40	MXI1	chr4:570895-571124	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr4:571513-571540	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr4:571109-571610	MCF10A-Er-Src	breast:	n/a	chr4:571238-571247
43	MYC	chr4:570823-571673	NB4	blood:	n/a	chr4:571238-571247
44	POLR2A	chr4:571958-574055	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr4:570130-570658	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr4:570772-571687	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr4:570768-572264	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr4:570208-570633	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr4:568722-570035	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:571042-571092	HIPEpiC	eye:	n/a
2	chr4:571042-571092	HIPEpiC	eye:	n/a
3	chr4:571120-571170	HAEpiC	amniotic membrane:	n/a
4	chr4:571675-571725	BJ	skin:	n/a
5	chr4:570361-570411	AG04449	skin:	fetal
6	chr4:571042-571092	HRPEpiC	eye:	n/a
7	chr4:571371-571421	SKMC	muscle:	n/a
8	chr4:571489-571539	NHBE	bronchial:	n/a
9	chr4:570361-570411	AG09319	gingival:	n/a
10	chr4:571737-571787	CMK	blood:	n/a
11	chr4:571489-571539	HRPEpiC	eye:	n/a
12	chr4:571042-571092	BJ	skin:	n/a
13	chr4:571120-571170	MCF10A-Er-Src	breast:	n/a
14	chr4:570361-570411	GM12878	blood:	n/a
15	chr4:571090-571140	GM19239	blood:	n/a
16	chr4:571737-571787	HIPEpiC	eye:	n/a
17	chr4:570361-570411	HRE	kidney:	n/a
18	chr4:571090-571140	MCF10A-Er-Src	breast:	n/a
19	chr4:571489-571539	GM06990	blood:	n/a
20	chr4:571120-571170	A549	lung:	n/a
21	chr4:571675-571725	SK-N-SH	brain:	n/a
22	chr4:571090-571140	HRPEpiC	eye:	n/a
23	chr4:571120-571170	IMR90	lung:	fetal
24	chr4:571042-571092	HUVEC	blood vessel:	n/a
25	chr4:571371-571421	SAEC	small airway:	n/a
26	chr4:571120-571170	HCM	heart:	n/a
27	chr4:571090-571140	IMR90	lung:	fetal
28	chr4:571675-571725	HepG2	liver:	n/a
29	chr4:571371-571421	GM12891	blood:	n/a
30	chr4:571675-571725	H1-hESC	embryonic stem cell:	embryo
31	chr4:571120-571170	MCF-7	breast:	n/a
32	chr4:571042-571092	HepG2	liver:	n/a
33	chr4:571675-571725	HMEC	breast:	n/a
34	chr4:571120-571170	ovcar-3	ovarian:	n/a
35	chr4:571675-571725	GM12892	blood:	n/a
36	chr4:571120-571170	BJ	skin:	n/a
37	chr4:571371-571421	BE2_C	brain:	n/a
38	chr4:571489-571539	Jurkat	blood:	n/a
39	chr4:571090-571140	HRE	kidney:	n/a
40	chr4:571090-571140	HL-60	blood:	n/a
41	chr4:571489-571539	BJ	skin:	n/a
42	chr4:571042-571092	HMEC	breast:	n/a
43	chr4:570361-570411	NH-A	brain:	n/a
44	chr4:571737-571787	H1-hESC	embryonic stem cell:	embryo
45	chr4:571042-571092	HCM	heart:	n/a
46	chr4:571675-571725	AoSMC	blood vessel:	n/a
47	chr4:571042-571092	SKMC	muscle:	n/a
48	chr4:571371-571421	PANC-1	pancreas:	n/a
49	chr4:570361-570411	Caco-2	colon:	n/a
50	chr4:570361-570411	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:
2	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:
3	chr4:564165..566404-chr4:569838..571549,2	K562	blood:
4	chr4:560447..562765-chr4:571972..574666,2	MCF-7	breast:
5	chr4:560309..561984-chr4:571273..573145,2	K562	blood:
6	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-1	chr4:571576-571933	NONHSAT094574
2	lnc-PDE6B-1	chr4:571079-572650	NONHSAT094567
3	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
4	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
5	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572
6	lnc-PDE6B-1	chr4:570919-571223	XLOC_003411
7	lnc-PDE6B-1	chr4:570957-572108	ENSG00000256961
8	lnc-PDE6B-1	chr4:570826-571223	NONHSAT094574
9	lnc-PDE6B-1	chr4:570359-570550	NONHSAT094567
10	lnc-PDE6B-1	chr4:571582-574077	NONHSAT094572

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

Extended variants
information (count: 57 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs553954384	chr4:570022-570023	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531659290	chr4:570025-570026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs192300086	chr4:570091-570092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184855414	chr4:570133-570134	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	rs544007304	chr4:570631-570632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	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
18	rs569077439	chr4:570740-570741	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs150495077	chr4:571064-571065	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
28	rs115841093	chr4:571116-571117	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
29	rs567149342	chr4:571138-571139	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
30	rs138314653	chr4:571268-571269	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
31	rs552888146	chr4:571279-571280	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
32	rs34368532	chr4:571331-571332	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
33	rs372014954	chr4:571350-571351	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
34	rs538633401	chr4:571361-571362	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
35	rs556743195	chr4:571381-571382	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
36	rs575316841	chr4:571403-571404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs368704350	chr4:571426-571427	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs73792329	chr4:571442-571443	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs57823756	chr4:571466-571467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144010884	chr4:571645-571646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs79200725	chr4:571719-571720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs541737744	chr4:571724-571725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs560091134	chr4:571732-571733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs28682363	chr4:571748-571749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189452923	chr4:571754-571755	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs545400812	chr4:571769-571770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs563602920	chr4:571780-571781	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs72611195	chr4:571793-571794	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549097612	chr4:571801-571802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs567112421	chr4:571827-571828	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region 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:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
2	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
4	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
5	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:568600-569600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr4:568600-569600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:568600-569600	Bivalent Enhancer	Lung	lung
9	chr4:568600-569800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:568600-569800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:568600-569800	Enhancers	Gastric	stomach
12	chr4:568600-570800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr4:568600-571200	Enhancers	Pancreas	Pancrea
14	chr4:568600-571400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:568600-571800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:568600-571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:568800-569800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:568800-570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:568800-570400	Active TSS	Fetal Brain Female	brain
20	chr4:568800-571200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:568800-571600	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:568800-572000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr4:569000-569600	Flanking Bivalent TSS/Enh	Ovary	ovary
24	chr4:569000-569800	Active TSS	Stomach Smooth Muscle	stomach
25	chr4:569000-570000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:569000-570200	Active TSS	Right Atrium	heart
27	chr4:569000-570800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr4:569000-571000	Bivalent Enhancer	HMEC	breast
29	chr4:569200-569800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:569200-569800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:569200-570200	Active TSS	Psoas Muscle	Psoas
32	chr4:569200-570200	Bivalent/Poised TSS	Thymus	Thymus
33	chr4:569200-570400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:569400-569600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:569400-569600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:569400-569600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr4:569400-569600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:569400-569600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr4:569400-569600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:569400-569600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:569400-569600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:569400-569600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
43	chr4:569400-569600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr4:569400-569600	Flanking Bivalent TSS/Enh	Spleen	Spleen
45	chr4:569400-569800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:569400-569800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:569400-569800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr4:569400-569800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr4:569400-569800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr4:569400-569800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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