Variant report

Variant	nsv428345
Chromosome Location	chr17:50348160-50511536
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	chr17:50488269-50488506	HepG2	liver:	n/a	n/a
2	ATF1	chr17:50460957-50461201	K562	blood:	n/a	n/a
3	BACH1	chr17:50374720-50374858	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr17:50460979-50461212	GM12878	blood:	n/a	n/a
5	CEBPB	chr17:50374614-50374919	HepG2	liver:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
6	CEBPB	chr17:50374544-50374969	Hela-S3	cervix:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
7	CEBPB	chr17:50376292-50376609	K562	blood:	n/a	chr17:50376439-50376450
8	CEBPB	chr17:50374584-50374935	IMR90	lung:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
9	CEBPB	chr17:50374431-50374942	H1-hESC	embryonic stem cell:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
10	CEBPB	chr17:50376273-50376617	IMR90	lung:	n/a	chr17:50376439-50376450
11	CEBPB	chr17:50374628-50374860	HepG2	liver:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
12	CEBPB	chr17:50376279-50376585	Hela-S3	cervix:	n/a	chr17:50376439-50376450
13	CEBPB	chr17:50374448-50374992	MCF-7	breast:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
14	CEBPB	chr17:50374301-50374950	A549	lung:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
15	CEBPB	chr17:50374616-50374878	ECC-1	luminal epithelium:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
16	CEBPB	chr17:50376257-50376635	HepG2	liver:	n/a	chr17:50376439-50376450
17	CEBPB	chr17:50365151-50365229	A549	lung:	n/a	n/a
18	CEBPB	chr17:50374502-50374945	MCF-7	breast:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
19	CEBPB	chr17:50374285-50374943	HepG2	liver:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
20	CEBPB	chr17:50392878-50392910	A549	lung:	n/a	n/a
21	CEBPB	chr17:50376259-50376623	A549	lung:	n/a	chr17:50376439-50376450
22	CEBPB	chr17:50374542-50374894	ECC-1	luminal epithelium:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
23	CEBPB	chr17:50374605-50374905	K562	blood:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
24	CEBPB	chr17:50451439-50451716	A549	lung:	n/a	chr17:50451569-50451580 chr17:50451497-50451510 chr17:50451569-50451582
25	CEBPB	chr17:50376282-50376620	H1-hESC	embryonic stem cell:	n/a	chr17:50376439-50376450
26	CEBPB	chr17:50451407-50451737	HepG2	liver:	n/a	chr17:50451569-50451580 chr17:50451497-50451510 chr17:50451569-50451582
27	CEBPB	chr17:50374583-50374938	HepG2	liver:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
28	CEBPB	chr17:50374491-50374873	A549	lung:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
29	CEBPB	chr17:50374426-50375056	A549	lung:	n/a	chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374751-50374760 chr17:50374749-50374760 chr17:50374749-50374762 chr17:50374751-50374762 chr17:50374751-50374760 chr17:50374749-50374762
30	CEBPD	chr17:50374617-50374853	HepG2	liver:	n/a	chr17:50374750-50374761 chr17:50374751-50374760
31	CHD2	chr17:50375155-50375172	K562	blood:	n/a	n/a
32	CHD2	chr17:50375041-50375241	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr17:50460823-50461318	HepG2	liver:	n/a	n/a
34	CREB1	chr17:50460872-50461239	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr17:50460891-50461247	GM12878	blood:	n/a	n/a
36	CREB1	chr17:50460775-50461354	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr17:50374587-50374907	HepG2	liver:	n/a	n/a
38	CTCF	chr17:50460801-50461313	MCF-7	breast:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
39	CTCF	chr17:50460904-50461227	MCF-7	breast:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
40	CTCF	chr17:50461020-50461170	HFF-Myc	foreskin:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
41	CTCF	chr17:50460980-50461130	BE2_C	brain:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
42	CTCF	chr17:50460980-50461130	NB4	blood:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
43	CTCF	chr17:50460941-50461182	MCF-7	breast:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
44	CTCF	chr17:50461000-50461150	GM12870	blood:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
45	CTCF	chr17:50461020-50461170	NHEK	skin:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
46	CTCF	chr17:50460960-50461110	HA-sp	spinal cord:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070
47	CTCF	chr17:50460920-50461070	HL-60	blood:	n/a	chr17:50461059-50461067 chr17:50461057-50461070
48	CTCF	chr17:50374700-50374850	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:50415780-50415930	BE2_C	brain:	n/a	n/a
50	CTCF	chr17:50460950-50461164	Lung_OC	lung:	n/a	chr17:50461059-50461067 chr17:50461054-50461072 chr17:50461055-50461071 chr17:50461056-50461077 chr17:50461057-50461070

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:50487054-50487104	SKMC	muscle:	n/a
2	chr17:50487054-50487104	H1-hESC	embryonic stem cell:	embryo
3	chr17:50487054-50487104	GM12891	blood:	n/a
4	chr17:50487054-50487104	HL-60	blood:	n/a
5	chr17:50487054-50487104	HPAEpiC	pulmonary alveolar:	n/a
6	chr17:50487054-50487104	IMR90	lung:	fetal
7	chr17:50487054-50487104	AG04450	lung:	fetal
8	chr17:50487054-50487104	NHDF-neo	bronchial:	n/a
9	chr17:50487054-50487104	NHBE	bronchial:	n/a
10	chr17:50487054-50487104	A549	lung:	n/a
11	chr17:50487054-50487104	NH-A	brain:	n/a
12	chr17:50487054-50487104	BJ	skin:	n/a
13	chr17:50487054-50487104	CMK	blood:	n/a
14	chr17:50487054-50487104	LNCaP	prostate:	n/a
15	chr17:50487054-50487104	HIPEpiC	eye:	n/a
16	chr17:50487054-50487104	HNPCEpiC	eye:	n/a
17	chr17:50487054-50487104	ProgFib	skin:	n/a
18	chr17:50487054-50487104	Hela-S3	cervix:	n/a
19	chr17:50487054-50487104	HCF	heart:	n/a
20	chr17:50487054-50487104	HEEpiC	esophagus:	n/a
21	chr17:50487054-50487104	T-47D	breast:	n/a
22	chr17:50487054-50487104	MCF-7	breast:	n/a
23	chr17:50487054-50487104	HCT-116	colon:	n/a
24	chr17:50487054-50487104	NB4	blood:	n/a
25	chr17:50487054-50487104	SK-N-SH_RA	brain:	n/a
26	chr17:50487054-50487104	HEK293	kidney:	embryo
27	chr17:50487054-50487104	PFSK-1	brain:	n/a
28	chr17:50487054-50487104	HepG2	liver:	n/a
29	chr17:50487054-50487104	AG10803	skin:	n/a
30	chr17:50487054-50487104	AG09319	gingival:	n/a
31	chr17:50487054-50487104	BE2_C	brain:	n/a
32	chr17:50487054-50487104	Hepatocyte	liver:	n/a
33	chr17:50487054-50487104	PANC-1	pancreas:	n/a
34	chr17:50487054-50487104	ECC-1	luminal epithelium:	n/a
35	chr17:50487054-50487104	GM12878	blood:	n/a
36	chr17:50487054-50487104	RPTEC	kidney:	n/a
37	chr17:50487054-50487104	GM06990	blood:	n/a
38	chr17:50487054-50487104	SK-N-MC	brain:	n/a
39	chr17:50487054-50487104	HRCEpiC	kidney:	n/a
40	chr17:50487054-50487104	HRE	kidney:	n/a
41	chr17:50487054-50487104	U87	brain:	n/a
42	chr17:50487054-50487104	AoSMC	blood vessel:	n/a
43	chr17:50487054-50487104	ovcar-3	ovarian:	n/a
44	chr17:50487054-50487104	GM19239	blood:	n/a
45	chr17:50487054-50487104	AG09309	skin:	n/a
46	chr17:50487054-50487104	HRPEpiC	eye:	n/a
47	chr17:50487054-50487104	GM12892	blood:	n/a
48	chr17:50487054-50487104	SK-N-SH	brain:	n/a
49	chr17:50487054-50487104	MCF10A-Er-Src	breast:	n/a
50	chr17:50487054-50487104	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:50358656..50360742-chr17:50369860..50371377,2	K562	blood:
2	chr17:50379960..50381641-chr17:50384239..50386174,2	K562	blood:
3	chr17:50293449..50293950-chr17:50396280..50396780,2	NB4	blood:
4	chr17:50443509..50445009-chr6:26285795..26287525,2	K562	blood:
5	chr17:50460518..50461546-chr17:50547645..50548624,5	MCF-7	breast:
6	chr17:50379960..50381641-chr17:50384239..50386174,2	K562	blood:
7	chr17:50460676..50461496-chr17:52249781..52250564,2	MCF-7	breast:
8	chr17:50460680..50461478-chr17:52968549..52969168,2	MCF-7	breast:
9	chr17:49841475..49842039-chr17:50374358..50374963,2	MCF-7	breast:
10	chr17:50358656..50360742-chr17:50369860..50371377,2	K562	blood:
11	chr17:50389276..50390105-chr8:100654719..100655443,2	MCF-7	breast:
12	chr17:50248094..50248992-chr17:50374364..50375238,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC102948.1.1-3	chr17:50467875-50467950	ENSG00000263317.1

Variant related genes	Relation type
ENSG00000263317	TF binding region
ENSG00000263317	CpG island

Extended variants
information (count: 871 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139814373	chr17:50354240-50354241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184793909	chr17:50354246-50354247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553564197	chr17:50354288-50354289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573221568	chr17:50354303-50354304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143227601	chr17:50354306-50354307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561698244	chr17:50354363-50354364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575241344	chr17:50354450-50354451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544237506	chr17:50354466-50354467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564222575	chr17:50354469-50354470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533287627	chr17:50354530-50354531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1034038	chr17:50354558-50354559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs56997699	chr17:50354577-50354578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541188835	chr17:50354604-50354605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151179774	chr17:50354613-50354614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528970113	chr17:50354632-50354633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554026539	chr17:50354647-50354648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549103086	chr17:50354693-50354694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139145276	chr17:50354756-50354757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112829554	chr17:50356623-50356624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9909851	chr17:50356627-50356628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560568223	chr17:50356698-50356699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370105540	chr17:50369619-50369620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551773753	chr17:50369635-50369636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369319047	chr17:50369639-50369640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565285500	chr17:50369642-50369643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191183860	chr17:50369793-50369794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547369704	chr17:50369848-50369849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77303510	chr17:50369903-50369904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541442532	chr17:50369931-50369932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374572774	chr17:50369944-50369945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549962996	chr17:50369945-50369946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537228087	chr17:50370014-50370015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182916209	chr17:50370152-50370153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1328116	chr17:50370154-50370155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142727213	chr17:50370162-50370163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534662106	chr17:50370222-50370223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542814676	chr17:50370264-50370265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554148881	chr17:50370293-50370294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146960018	chr17:50370301-50370302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186664879	chr17:50370319-50370320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563099071	chr17:50370378-50370379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561049620	chr17:50402216-50402217	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs574306385	chr17:50402242-50402243	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs557470796	chr17:50402301-50402302	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs543465517	chr17:50402362-50402363	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs563144266	chr17:50402400-50402401	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs183604168	chr17:50403008-50403009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561191964	chr17:50403022-50403023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530119067	chr17:50403032-50403033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549890743	chr17:50403035-50403036	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50354200-50354800	Enhancers	Fetal Brain Male	brain
2	chr17:50356600-50356800	Enhancers	Fetal Brain Male	brain
3	chr17:50369600-50370400	Enhancers	Adipose Nuclei	Adipose
4	chr17:50402200-50402400	Bivalent Enhancer	Liver	Liver
5	chr17:50403000-50403200	Enhancers	Right Atrium	heart
6	chr17:50414800-50415400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:50415400-50415600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:50415600-50416800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:50416600-50417000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:50416800-50417000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:50448600-50449000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:50448600-50449000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr17:50448600-50449000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr17:50453600-50454000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:50454800-50456000	Enhancers	Stomach Mucosa	stomach
16	chr17:50455800-50456000	Enhancers	Gastric	stomach
17	chr17:50455800-50456600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:50456000-50456800	Weak transcription	Stomach Mucosa	stomach
19	chr17:50456000-50457000	Weak transcription	Gastric	stomach
20	chr17:50456200-50457600	Enhancers	HepG2	liver
21	chr17:50456600-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:50456800-50457600	Enhancers	Stomach Mucosa	stomach
23	chr17:50457000-50457600	Enhancers	Gastric	stomach
24	chr17:50457000-50457800	Enhancers	Pancreas	Pancrea
25	chr17:50457600-50466600	Weak transcription	Stomach Mucosa	stomach
26	chr17:50460800-50461400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr17:50460800-50461400	Enhancers	Brain Hippocampus Middle	brain
28	chr17:50461000-50461400	Enhancers	Psoas Muscle	Psoas
29	chr17:50461400-50462000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr17:50463000-50463400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr17:50466000-50466800	Enhancers	Duodenum Mucosa	Duodenum
32	chr17:50466200-50466800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr17:50466400-50467200	Enhancers	Aorta	Aorta
34	chr17:50466600-50467000	Enhancers	Stomach Mucosa	stomach
35	chr17:50466800-50467000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr17:50466800-50467000	Enhancers	Ovary	ovary
37	chr17:50466800-50467000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr17:50466800-50467200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr17:50467000-50467400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:50467000-50467400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr17:50467000-50467600	Active TSS	Duodenum Mucosa	Duodenum
42	chr17:50467000-50467600	Active TSS	Ovary	ovary
43	chr17:50467000-50467600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr17:50467000-50467800	Active TSS	Stomach Mucosa	stomach
45	chr17:50467200-50467600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:50467200-50467600	Active TSS	Adipose Nuclei	Adipose
47	chr17:50467200-50467600	Active TSS	Aorta	Aorta
48	chr17:50467200-50467600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr17:50467200-50467600	Active TSS	Rectal Smooth Muscle	rectum
50	chr17:50467200-50467600	Active TSS	Right Atrium	heart

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