Variant report

Variant	esv3423314
Chromosome Location	chr2:20549496-20552044
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	chr2:20550576-20551614	HepG2	liver:	n/a	n/a
2	ATF2	chr2:20550592-20551258	GM12878	blood:	n/a	n/a
3	ATF2	chr2:20550563-20550900	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:20550508-20551078	GM12878	blood:	n/a	n/a
5	ATF2	chr2:20549805-20550392	GM12878	blood:	n/a	n/a
6	ATF3	chr2:20550440-20551113	A549	lung:	n/a	chr2:20550992-20551001 chr2:20550620-20550629
7	ATF3	chr2:20550573-20550900	K562	blood:	n/a	chr2:20550620-20550629
8	ATF3	chr2:20550160-20551578	A549	lung:	n/a	chr2:20550992-20551001 chr2:20550620-20550629
9	BACH1	chr2:20550819-20550845	K562	blood:	n/a	n/a
10	BACH1	chr2:20549773-20550165	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:20550610-20551366	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr2:20549734-20551545	A549	lung:	n/a	chr2:20550362-20550375 chr2:20550994-20551007 chr2:20550839-20550848 chr2:20550834-20550847 chr2:20550094-20550107 chr2:20550837-20550846 chr2:20551487-20551495 chr2:20550837-20550850 chr2:20550834-20550843 chr2:20550841-20550854
13	BCLAF1	chr2:20550494-20551053	K562	blood:	n/a	chr2:20550994-20551007 chr2:20550839-20550848 chr2:20550834-20550847 chr2:20550837-20550846 chr2:20550837-20550850 chr2:20550834-20550843 chr2:20550841-20550854
14	BCLAF1	chr2:20550505-20551558	GM12878	blood:	n/a	chr2:20550994-20551007 chr2:20550839-20550848 chr2:20550834-20550847 chr2:20550837-20550846 chr2:20551487-20551495 chr2:20550837-20550850 chr2:20550834-20550843 chr2:20550841-20550854
15	BHLHE40	chr2:20550579-20550952	A549	lung:	n/a	n/a
16	BHLHE40	chr2:20550504-20551087	HepG2	liver:	n/a	n/a
17	BHLHE40	chr2:20549963-20551345	K562	blood:	n/a	chr2:20550359-20550375
18	BHLHE40	chr2:20551841-20551844	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:20550548-20550974	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:20549584-20551302	GM12878	blood:	n/a	chr2:20550359-20550375
21	BHLHE40	chr2:20550012-20551708	HepG2	liver:	n/a	chr2:20550359-20550375
22	BRCA1	chr2:20550718-20550889	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:20550630-20550957	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:20551144-20551445	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:20550794-20551420	GM12878	blood:	n/a	n/a
26	CBX3	chr2:20549905-20551497	K562	blood:	n/a	n/a
27	CBX3	chr2:20550608-20551094	K562	blood:	n/a	n/a
28	CCNT2	chr2:20549829-20551141	K562	blood:	n/a	chr2:20550601-20550610 chr2:20550182-20550191 chr2:20550647-20550656
29	CEBPB	chr2:20550676-20551018	K562	blood:	n/a	n/a
30	CEBPB	chr2:20550598-20551070	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:20550348-20550369	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:20550661-20551030	A549	lung:	n/a	n/a
33	CEBPB	chr2:20550281-20550424	K562	blood:	n/a	n/a
34	CEBPB	chr2:20550680-20551025	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:20550556-20551034	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:20550585-20551115	MCF-7	breast:	n/a	n/a
37	CEBPB	chr2:20550735-20551650	GM12878	blood:	n/a	n/a
38	CEBPB	chr2:20550684-20551071	K562	blood:	n/a	n/a
39	CEBPB	chr2:20550626-20551044	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:20550584-20550934	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:20551383-20551672	HepG2	liver:	n/a	n/a
42	CEBPD	chr2:20549920-20550467	HepG2	liver:	n/a	n/a
43	CEBPD	chr2:20550495-20551065	HepG2	liver:	n/a	n/a
44	CEBPD	chr2:20550444-20551055	K562	blood:	n/a	n/a
45	CEBPD	chr2:20550473-20551085	HepG2	liver:	n/a	n/a
46	CHD1	chr2:20550914-20551100	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr2:20549060-20550414	H1-hESC	embryonic stem cell:	n/a	chr2:20550267-20550277
48	CHD1	chr2:20550654-20551622	GM12878	blood:	n/a	n/a
49	CHD1	chr2:20549636-20550036	GM12878	blood:	n/a	n/a
50	CHD2	chr2:20549785-20551540	GM12878	blood:	n/a	chr2:20550601-20550611 chr2:20550267-20550277

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20550205-20550255	ECC-1	luminal epithelium:	n/a
2	chr2:20550205-20550255	ECC-1	luminal epithelium:	n/a
3	chr2:20551587-20551637	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:20551234-20551284	SK-N-MC	brain:	n/a
5	chr2:20549772-20549822	NB4	blood:	n/a
6	chr2:20550531-20550581	HUVEC	blood vessel:	n/a
7	chr2:20549772-20549822	ECC-1	luminal epithelium:	n/a
8	chr2:20550531-20550581	CMK	blood:	n/a
9	chr2:20549772-20549822	HNPCEpiC	eye:	n/a
10	chr2:20551587-20551637	HCM	heart:	n/a
11	chr2:20550531-20550581	NT2-D1	testis:	n/a
12	chr2:20550531-20550581	NB4	blood:	n/a
13	chr2:20551234-20551284	HUVEC	blood vessel:	n/a
14	chr2:20551587-20551637	AG09319	gingival:	n/a
15	chr2:20550539-20550589	GM12878	blood:	n/a
16	chr2:20550539-20550589	HNPCEpiC	eye:	n/a
17	chr2:20550205-20550255	LNCaP	prostate:	n/a
18	chr2:20551587-20551637	GM12892	blood:	n/a
19	chr2:20551234-20551284	SAEC	small airway:	n/a
20	chr2:20550205-20550255	HCM	heart:	n/a
21	chr2:20551234-20551284	HCM	heart:	n/a
22	chr2:20550205-20550255	NB4	blood:	n/a
23	chr2:20551058-20551108	AG09309	skin:	n/a
24	chr2:20551587-20551637	BE2_C	brain:	n/a
25	chr2:20551587-20551637	HAEpiC	amniotic membrane:	n/a
26	chr2:20551587-20551637	Jurkat	blood:	n/a
27	chr2:20550539-20550589	AG10803	skin:	n/a
28	chr2:20550531-20550581	HRPEpiC	eye:	n/a
29	chr2:20551234-20551284	ovcar-3	ovarian:	n/a
30	chr2:20550539-20550589	SAEC	small airway:	n/a
31	chr2:20551587-20551637	ECC-1	luminal epithelium:	n/a
32	chr2:20550531-20550581	SAEC	small airway:	n/a
33	chr2:20551058-20551108	NT2-D1	testis:	n/a
34	chr2:20549772-20549822	ovcar-3	ovarian:	n/a
35	chr2:20550531-20550581	AG10803	skin:	n/a
36	chr2:20551058-20551108	RPTEC	kidney:	n/a
37	chr2:20550539-20550589	HRPEpiC	eye:	n/a
38	chr2:20551234-20551284	ECC-1	luminal epithelium:	n/a
39	chr2:20550531-20550581	AG09319	gingival:	n/a
40	chr2:20551058-20551108	Caco-2	colon:	n/a
41	chr2:20551234-20551284	T-47D	breast:	n/a
42	chr2:20550531-20550581	BJ	skin:	n/a
43	chr2:20550531-20550581	NHDF-neo	bronchial:	n/a
44	chr2:20551234-20551284	AG04449	skin:	fetal
45	chr2:20550205-20550255	GM19239	blood:	n/a
46	chr2:20551058-20551108	HIPEpiC	eye:	n/a
47	chr2:20551058-20551108	BJ	skin:	n/a
48	chr2:20550205-20550255	NHBE	bronchial:	n/a
49	chr2:20551587-20551637	T-47D	breast:	n/a
50	chr2:20550531-20550581	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20550212..20550981-chr6:144416243..144417147,2	NB4	blood:
2	chr11:65685171..65687731-chr2:20547276..20549842,2	MCF-7	breast:
3	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
4	chr2:20550911..20553369-chr2:20646204..20648737,2	K562	blood:
5	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:
6	chr2:20526069..20526648-chr2:20550792..20551493,2	K562	blood:
7	chr2:20549505..20552081-chr2:20849266..20851365,2	MCF-7	breast:
8	chr2:20551173..20551919-chr2:20578436..20578988,2	MCF-7	breast:
9	chr2:20549000..20550935-chr2:20649579..20652329,2	MCF-7	breast:
10	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
11	chr1:52194828..52195735-chr2:20549887..20550726,2	Hela-S3	cervix:
12	chr2:20551173..20551947-chr2:20578423..20578988,3	MCF-7	breast:
13	chr2:20099437..20102980-chr2:20547960..20551663,4	K562	blood:
14	chr12:48572524..48575406-chr2:20550361..20552479,2	MCF-7	breast:
15	chr2:20550750..20552615-chr2:21021758..21023805,2	K562	blood:
16	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:

Variant related genes	Relation type
PUM2	TF binding region
PUM2	CpG island
ENSG00000228950	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000177981	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000169976	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000117859	chromatin interactions
ENSG00000183891	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532008831	chr2:20549508-20549509	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs115673854	chr2:20549514-20549515	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs370207677	chr2:20549521-20549522	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs192698601	chr2:20549550-20549551	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs4427977	chr2:20549552-20549553	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548823571	chr2:20549632-20549633	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs544870917	chr2:20549694-20549695	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs533055137	chr2:20549762-20549763	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs185747252	chr2:20549771-20549772	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs560909743	chr2:20549775-20549776	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs574474691	chr2:20549837-20549838	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs141697773	chr2:20549872-20549873	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs369322970	chr2:20549893-20549894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs532079826	chr2:20549894-20549895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs527417007	chr2:20549917-20549918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs77503424	chr2:20549937-20549938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs562502709	chr2:20550007-20550008	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs572664272	chr2:20550022-20550023	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs548076861	chr2:20550025-20550026	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs201559568	chr2:20550027-20550028	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs139418435	chr2:20550028-20550029	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs369258411	chr2:20550029-20550030	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs62124603	chr2:20550032-20550033	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536231113	chr2:20550036-20550037	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs539069527	chr2:20550083-20550084	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs75856866	chr2:20550089-20550090	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs566979030	chr2:20550095-20550096	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs538726429	chr2:20550156-20550157	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs559118647	chr2:20550255-20550256	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs575903088	chr2:20550298-20550299	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs538575714	chr2:20550364-20550365	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs555283861	chr2:20550475-20550476	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs574511449	chr2:20550529-20550530	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs569765888	chr2:20550605-20550606	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs540253691	chr2:20550610-20550611	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs181811042	chr2:20550611-20550612	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs576880672	chr2:20550683-20550684	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs545532924	chr2:20550732-20550733	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs562749621	chr2:20550823-20550824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs531394199	chr2:20550830-20550831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs62124604	chr2:20550832-20550833	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561629683	chr2:20550840-20550841	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs368340064	chr2:20550857-20550858	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs184608272	chr2:20550947-20550948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs527555071	chr2:20550989-20550990	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs546991091	chr2:20551006-20551007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs535676258	chr2:20551007-20551008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs566714515	chr2:20551021-20551022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs539167750	chr2:20551042-20551043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs552377758	chr2:20551210-20551211	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20545200-20549600	Weak transcription	Esophagus	oesophagus
2	chr2:20546800-20549800	Weak transcription	Spleen	Spleen
3	chr2:20547400-20550000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr2:20547600-20551800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:20547800-20549600	Weak transcription	Small Intestine	intestine
6	chr2:20547800-20550000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:20547800-20551400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20548200-20549600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20548200-20549600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:20548200-20549600	Flanking Active TSS	Liver	Liver
11	chr2:20548200-20549600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:20548200-20549800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:20548200-20549800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:20548200-20549800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:20548200-20549800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr2:20548200-20549800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20548200-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:20548200-20550800	Active TSS	Stomach Smooth Muscle	stomach
19	chr2:20548400-20549600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:20548400-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:20548400-20549800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:20548400-20551000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:20548400-20551000	Active TSS	Colonic Mucosa	Colon
24	chr2:20548400-20551000	Active TSS	Fetal Intestine Large	intestine
25	chr2:20548400-20551200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:20548600-20549800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr2:20548600-20549800	Weak transcription	Pancreas	Pancrea
29	chr2:20548600-20550800	Active TSS	Placenta	Placenta
30	chr2:20548600-20551000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:20548600-20551000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:20548600-20551000	Active TSS	A549	lung
33	chr2:20548600-20551000	Active TSS	K562	blood
34	chr2:20548600-20551200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:20548600-20551200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:20548600-20551200	Active TSS	Fetal Intestine Small	intestine
37	chr2:20548600-20551200	Active TSS	Fetal Thymus	thymus
38	chr2:20548600-20551400	Active TSS	Right Ventricle	heart
39	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:20548600-20551600	Active TSS	Ovary	ovary
41	chr2:20548600-20551800	Active TSS	Thymus	Thymus
42	chr2:20548800-20549600	Weak transcription	Lung	lung
43	chr2:20548800-20549600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:20548800-20549600	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:20548800-20549600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:20548800-20549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:20548800-20549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:20548800-20549800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:20548800-20550000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr2:20548800-20550000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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