Variant report

Variant	esv19188
Chromosome Location	chr1:57887539-57890289
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	chr1:57889135-57889439	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:57887740-57888660	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:57889947-57890545	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:57890226-57890640	HepG2	liver:	n/a	n/a
5	BRCA1	chr1:57888539-57888585	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:57890286-57890652	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr1:57887731-57888040	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr1:57890019-57890403	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:57890192-57890666	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:57888978-57889244	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:57887813-57887973	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr1:57889876-57890784	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr1:57887871-57889661	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:57888500-57888650	HA-sp	spinal cord:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
15	CTCF	chr1:57890218-57890435	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
16	CTCF	chr1:57888491-57888615	SK-N-SH_RA	brain:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
17	CTCF	chr1:57890025-57890174	Fibrobl	skin:	n/a	n/a
18	CTCF	chr1:57890260-57890410	HUVEC	blood vessel:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
19	CTCF	chr1:57888060-57888210	AG04450	lung:	n/a	n/a
20	CTCF	chr1:57887940-57888090	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr1:57888140-57888290	BJ	skin:	n/a	n/a
22	CTCF	chr1:57888500-57888650	HRE	kidney:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
23	CTCF	chr1:57888132-57888273	NHEK	skin:	n/a	n/a
24	CTCF	chr1:57888460-57888610	HBMEC	blood vessel:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
25	CTCF	chr1:57888549-57888685	Fibrobl	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
26	CTCF	chr1:57890280-57890430	GM12868	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
27	CTCF	chr1:57890280-57890430	WERI-Rb-1	eye:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
28	CTCF	chr1:57890180-57890330	WI-38	lung:	n/a	n/a
29	CTCF	chr1:57890210-57890214	Fibrobl	skin:	n/a	n/a
30	CTCF	chr1:57890180-57890330	GM12870	blood:	n/a	n/a
31	CTCF	chr1:57888540-57888690	HMF	breast:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
32	CTCF	chr1:57890257-57890481	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
33	CTCF	chr1:57888460-57888610	HFF-Myc	foreskin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
34	CTCF	chr1:57890220-57890370	AG04450	lung:	n/a	n/a
35	CTCF	chr1:57888517-57888665	ProgFib	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
36	CTCF	chr1:57888480-57888630	AoAF	blood vessel:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
37	CTCF	chr1:57890271-57890465	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
38	CTCF	chr1:57888520-57888670	AG10803	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
39	CTCF	chr1:57890101-57890492	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
40	CTCF	chr1:57890220-57890370	K562	blood:	n/a	n/a
41	CTCF	chr1:57889595-57889602	Fibrobl	skin:	n/a	n/a
42	CTCF	chr1:57889940-57890090	AG04449	skin:	n/a	n/a
43	CTCF	chr1:57890240-57890390	RPTEC	kidney:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
44	CTCF	chr1:57888440-57888702	SK-N-SH_RA	brain:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
45	CTCF	chr1:57888586-57888619	LNCaP	prostate:	n/a	chr1:57888588-57888597 chr1:57888587-57888608
46	CTCF	chr1:57888480-57888630	WERI-Rb-1	eye:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
47	CTCF	chr1:57889320-57889470	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr1:57890220-57890370	GM12872	blood:	n/a	n/a
49	CTCF	chr1:57888185-57888217	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:57890246-57890452	SK-N-SH_RA	brain:	n/a	chr1:57890365-57890383 chr1:57890368-57890381 chr1:57890366-57890382

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57889604-57889654	AG04450	lung:	fetal
2	chr1:57888343-57888393	NH-A	brain:	n/a
3	chr1:57888796-57888846	Caco-2	colon:	n/a
4	chr1:57888480-57888530	AG04450	lung:	fetal
5	chr1:57888796-57888846	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:57889475-57889525	HMEC	breast:	n/a
7	chr1:57888343-57888393	HCT-116	colon:	n/a
8	chr1:57888480-57888530	NHDF-neo	bronchial:	n/a
9	chr1:57888707-57888757	AG09319	gingival:	n/a
10	chr1:57887655-57887705	HUVEC	blood vessel:	n/a
11	chr1:57889604-57889654	GM06990	blood:	n/a
12	chr1:57889604-57889654	HEK293	kidney:	embryo
13	chr1:57888059-57888109	HRCEpiC	kidney:	n/a
14	chr1:57889417-57889467	PrEC	prostate:	n/a
15	chr1:57889417-57889467	NT2-D1	testis:	n/a
16	chr1:57888059-57888109	HRPEpiC	eye:	n/a
17	chr1:57888343-57888393	PrEC	prostate:	n/a
18	chr1:57887655-57887705	K562	blood:	n/a
19	chr1:57888059-57888109	HAEpiC	amniotic membrane:	n/a
20	chr1:57888581-57888631	LNCaP	prostate:	n/a
21	chr1:57888796-57888846	AoSMC	blood vessel:	n/a
22	chr1:57887655-57887705	A549	lung:	n/a
23	chr1:57889475-57889525	GM12878	blood:	n/a
24	chr1:57888343-57888393	PANC-1	pancreas:	n/a
25	chr1:57889475-57889525	NHDF-neo	bronchial:	n/a
26	chr1:57888707-57888757	BJ	skin:	n/a
27	chr1:57888581-57888631	PFSK-1	brain:	n/a
28	chr1:57888343-57888393	MCF10A-Er-Src	breast:	n/a
29	chr1:57889417-57889467	GM12891	blood:	n/a
30	chr1:57889475-57889525	AG10803	skin:	n/a
31	chr1:57888581-57888631	BE2_C	brain:	n/a
32	chr1:57888581-57888631	HRCEpiC	kidney:	n/a
33	chr1:57889604-57889654	A549	lung:	n/a
34	chr1:57888707-57888757	PFSK-1	brain:	n/a
35	chr1:57888707-57888757	CMK	blood:	n/a
36	chr1:57888480-57888530	PANC-1	pancreas:	n/a
37	chr1:57889475-57889525	Jurkat	blood:	n/a
38	chr1:57888796-57888846	HRPEpiC	eye:	n/a
39	chr1:57888707-57888757	HNPCEpiC	eye:	n/a
40	chr1:57888480-57888530	Hepatocyte	liver:	n/a
41	chr1:57889604-57889654	Hela-S3	cervix:	n/a
42	chr1:57889417-57889467	H1-hESC	embryonic stem cell:	embryo
43	chr1:57888480-57888530	HRCEpiC	kidney:	n/a
44	chr1:57888581-57888631	SK-N-MC	brain:	n/a
45	chr1:57889604-57889654	HCT-116	colon:	n/a
46	chr1:57888480-57888530	IMR90	lung:	fetal
47	chr1:57887655-57887705	RPTEC	kidney:	n/a
48	chr1:57888343-57888393	HCF	heart:	n/a
49	chr1:57888480-57888530	HEK293	kidney:	embryo
50	chr1:57889475-57889525	PANC-1	pancreas:	n/a

Variant related genes	Relation type
DAB1	TF binding region
DAB1	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564208747	chr1:57887581-57887582	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200226853	chr1:57887589-57887590	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528200943	chr1:57887625-57887626	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546334010	chr1:57887742-57887743	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540244881	chr1:57887768-57887769	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35783414	chr1:57887778-57887779	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532713796	chr1:57887809-57887810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530351439	chr1:57887859-57887860	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563022463	chr1:57887932-57887933	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79906980	chr1:57887985-57887986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4912164	chr1:57887992-57887993	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79382652	chr1:57888030-57888031	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114889277	chr1:57888032-57888033	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547437500	chr1:57888077-57888078	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78255678	chr1:57888084-57888085	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556451654	chr1:57888093-57888094	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184128992	chr1:57888140-57888141	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61770760	chr1:57888141-57888142	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186694874	chr1:57888213-57888214	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116467467	chr1:57888220-57888221	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540447931	chr1:57888296-57888297	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540298287	chr1:57888313-57888314	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560127521	chr1:57888314-57888315	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577200929	chr1:57888324-57888325	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545853920	chr1:57888355-57888356	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71511461	chr1:57888390-57888391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531903428	chr1:57888403-57888404	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35900444	chr1:57888448-57888449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548811148	chr1:57888588-57888589	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562217787	chr1:57888611-57888612	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527398717	chr1:57888684-57888685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560310927	chr1:57888726-57888727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570430724	chr1:57888823-57888824	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76255227	chr1:57888828-57888829	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35413219	chr1:57888842-57888843	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397746489	chr1:57888846-57888847	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191546802	chr1:57888921-57888922	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112367017	chr1:57888934-57888935	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368160721	chr1:57888992-57888993	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569940254	chr1:57889041-57889042	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535316283	chr1:57889069-57889070	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372416550	chr1:57889072-57889073	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7519071	chr1:57889227-57889228	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565506402	chr1:57889248-57889249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534496311	chr1:57889261-57889262	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553878181	chr1:57889278-57889279	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369190541	chr1:57889358-57889359	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372947637	chr1:57889376-57889377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7552354	chr1:57889444-57889445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556244083	chr1:57889466-57889467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57871000-57887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57885800-57887800	Active TSS	Fetal Brain Male	brain
3	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
4	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:57887000-57887600	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:57887200-57888200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr1:57887200-57888400	Enhancers	Fetal Heart	heart
9	chr1:57887200-57888600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr1:57887200-57888800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:57887400-57887600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:57887400-57887800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr1:57887400-57888200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:57887400-57888400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:57887400-57888400	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr1:57887400-57888400	Active TSS	Brain Angular Gyrus	brain
22	chr1:57887400-57889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
25	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:57887400-57890600	Active TSS	Right Atrium	heart
28	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:57887600-57887800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:57887600-57887800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:57887600-57887800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:57887600-57887800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:57887600-57887800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr1:57887600-57887800	Bivalent/Poised TSS	NHEK	skin
35	chr1:57887600-57888000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:57887600-57888000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:57887600-57888000	Bivalent Enhancer	Fetal Lung	lung
38	chr1:57887600-57889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:57887800-57888000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:57887800-57888000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:57887800-57888000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:57887800-57888000	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr1:57887800-57888000	Active TSS	Brain Anterior Caudate	brain

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