Variant report

Variant	nsv945672
Chromosome Location	chr1:225339532-225561349
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	chr1:225531377-225531662	K562	blood:	n/a	n/a
2	ARID3A	chr1:225416534-225417017	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:225396825-225397387	HepG2	liver:	n/a	n/a
4	ATF1	chr1:225539395-225539510	K562	blood:	n/a	n/a
5	ATF1	chr1:225368725-225368728	K562	blood:	n/a	n/a
6	ATF1	chr1:225522856-225523015	K562	blood:	n/a	n/a
7	ATF2	chr1:225438070-225438415	GM12878	blood:	n/a	n/a
8	BATF	chr1:225534970-225535263	GM12878	blood:	n/a	n/a
9	BATF	chr1:225534936-225535219	GM12878	blood:	n/a	n/a
10	BATF	chr1:225438147-225438493	GM12878	blood:	n/a	n/a
11	BATF	chr1:225438165-225438534	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:225438111-225438466	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:225438166-225438412	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:225438084-225438466	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:225506659-225507037	K562	blood:	n/a	n/a
16	CBX3	chr1:225468298-225468601	K562	blood:	n/a	n/a
17	CBX3	chr1:225365321-225365563	K562	blood:	n/a	n/a
18	CBX3	chr1:225468328-225468669	K562	blood:	n/a	n/a
19	CBX3	chr1:225365330-225365566	K562	blood:	n/a	n/a
20	CBX3	chr1:225468317-225468636	HCT-116	colon:	n/a	n/a
21	CBX3	chr1:225468343-225468607	HCT-116	colon:	n/a	n/a
22	CCNT2	chr1:225468943-225469050	K562	blood:	n/a	n/a
23	CEBPB	chr1:225552157-225552436	MCF-7	breast:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
24	CEBPB	chr1:225459947-225460000	A549	lung:	n/a	n/a
25	CEBPB	chr1:225464505-225464691	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:225552157-225552530	H1-hESC	embryonic stem cell:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
27	CEBPB	chr1:225542412-225542947	Hela-S3	cervix:	n/a	chr1:225542613-225542626 chr1:225542613-225542624 chr1:225542613-225542626 chr1:225542615-225542626 chr1:225542615-225542626
28	CEBPB	chr1:225552171-225552544	A549	lung:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
29	CEBPB	chr1:225424526-225424624	A549	lung:	n/a	n/a
30	CEBPB	chr1:225552150-225552641	A549	lung:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
31	CEBPB	chr1:225552090-225552479	HCT-116	colon:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
32	CEBPB	chr1:225552249-225552397	HepG2	liver:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
33	CEBPB	chr1:225542497-225542704	A549	lung:	n/a	chr1:225542613-225542626 chr1:225542613-225542624 chr1:225542613-225542626 chr1:225542615-225542626 chr1:225542615-225542626
34	CEBPB	chr1:225466364-225466580	HepG2	liver:	n/a	chr1:225466481-225466494 chr1:225466481-225466494 chr1:225466483-225466494 chr1:225466481-225466492
35	CEBPB	chr1:225479132-225479159	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:225548440-225548640	K562	blood:	n/a	n/a
37	CEBPB	chr1:225542583-225542798	HepG2	liver:	n/a	chr1:225542613-225542626 chr1:225542613-225542624 chr1:225542613-225542626 chr1:225542615-225542626 chr1:225542615-225542626
38	CEBPB	chr1:225396821-225397186	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:225412593-225412887	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:225553340-225553366	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr1:225552132-225552618	K562	blood:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
42	CEBPB	chr1:225552174-225552585	ECC-1	luminal epithelium:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
43	CEBPB	chr1:225552155-225552528	HepG2	liver:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
44	CEBPB	chr1:225552179-225552460	K562	blood:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
45	CEBPB	chr1:225552154-225552520	A549	lung:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
46	CEBPB	chr1:225547843-225548075	IMR90	lung:	n/a	chr1:225547989-225548000
47	CEBPB	chr1:225552110-225552541	K562	blood:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
48	CEBPB	chr1:225547872-225548141	HepG2	liver:	n/a	chr1:225547989-225548000
49	CEBPB	chr1:225552181-225552523	Hela-S3	cervix:	n/a	chr1:225552337-225552350 chr1:225552337-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348 chr1:225552339-225552348
50	CEBPB	chr1:225417850-225417972	IMR90	lung:	n/a	chr1:225417940-225417951

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225427173-225427223	Caco-2	colon:	n/a
2	chr1:225427173-225427223	MCF-7	breast:	n/a
3	chr1:225427173-225427223	PrEC	prostate:	n/a
4	chr1:225427173-225427223	AG09309	skin:	n/a
5	chr1:225427173-225427223	SKMC	muscle:	n/a
6	chr1:225427173-225427223	BE2_C	brain:	n/a
7	chr1:225427173-225427223	K562	blood:	n/a
8	chr1:225427173-225427223	GM12891	blood:	n/a
9	chr1:225427173-225427223	HUVEC	blood vessel:	n/a
10	chr1:225427173-225427223	HEEpiC	esophagus:	n/a
11	chr1:225427173-225427223	HNPCEpiC	eye:	n/a
12	chr1:225427173-225427223	PANC-1	pancreas:	n/a
13	chr1:225427173-225427223	AG04450	lung:	fetal
14	chr1:225427173-225427223	HCF	heart:	n/a
15	chr1:225427173-225427223	HIPEpiC	eye:	n/a
16	chr1:225427173-225427223	Jurkat	blood:	n/a
17	chr1:225427173-225427223	H1-hESC	embryonic stem cell:	embryo
18	chr1:225427173-225427223	MCF10A-Er-Src	breast:	n/a
19	chr1:225427173-225427223	CMK	blood:	n/a
20	chr1:225427173-225427223	BJ	skin:	n/a
21	chr1:225427173-225427223	T-47D	breast:	n/a
22	chr1:225427173-225427223	HepG2	liver:	n/a
23	chr1:225427173-225427223	PFSK-1	brain:	n/a
24	chr1:225427173-225427223	GM12878	blood:	n/a
25	chr1:225427173-225427223	AoSMC	blood vessel:	n/a
26	chr1:225427173-225427223	HAEpiC	amniotic membrane:	n/a
27	chr1:225427173-225427223	SAEC	small airway:	n/a
28	chr1:225427173-225427223	HL-60	blood:	n/a
29	chr1:225427173-225427223	Hela-S3	cervix:	n/a
30	chr1:225427173-225427223	HRPEpiC	eye:	n/a
31	chr1:225427173-225427223	NT2-D1	testis:	n/a
32	chr1:225427173-225427223	HEK293	kidney:	embryo
33	chr1:225427173-225427223	HCT-116	colon:	n/a
34	chr1:225427173-225427223	GM06990	blood:	n/a
35	chr1:225427173-225427223	IMR90	lung:	fetal
36	chr1:225427173-225427223	SK-N-SH	brain:	n/a
37	chr1:225427173-225427223	ECC-1	luminal epithelium:	n/a
38	chr1:225427173-225427223	RPTEC	kidney:	n/a
39	chr1:225427173-225427223	HMEC	breast:	n/a
40	chr1:225427173-225427223	SK-N-MC	brain:	n/a
41	chr1:225427173-225427223	A549	lung:	n/a
42	chr1:225427173-225427223	ovcar-3	ovarian:	n/a
43	chr1:225427173-225427223	SK-N-SH_RA	brain:	n/a
44	chr1:225427173-225427223	AG10803	skin:	n/a
45	chr1:225427173-225427223	NB4	blood:	n/a
46	chr1:225427173-225427223	HRE	kidney:	n/a
47	chr1:225427173-225427223	Hepatocyte	liver:	n/a
48	chr1:225427173-225427223	AG04449	skin:	fetal
49	chr1:225427173-225427223	NHDF-neo	bronchial:	n/a
50	chr1:225427173-225427223	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225488601..225490317-chr1:225494794..225496298,2	MCF-7	breast:
2	chr1:225528499..225531078-chr1:225533837..225535776,2	K562	blood:
3	chr1:225528499..225531078-chr1:225532986..225535776,3	K562	blood:
4	chr1:225506454..225506954-chr1:225625445..225626402,2	MCF-7	breast:
5	chr1:225506556..225507373-chr1:225531091..225531759,2	MCF-7	breast:
6	chr1:225540127..225543141-chr1:225544972..225548486,4	K562	blood:
7	chr1:225114949..225117606-chr1:225342545..225344625,2	K562	blood:
8	chr1:225547542..225550580-chr1:225551460..225555926,4	MCF-7	breast:
9	chr1:225540074..225543141-chr1:225544972..225548275,3	K562	blood:
10	chr1:225537288..225539034-chr1:225551951..225554490,2	K562	blood:
11	chr1:225339059..225340673-chr1:225341407..225343124,2	K562	blood:
12	chr1:225537534..225539602-chr1:225550916..225553451,2	K562	blood:
13	chr1:225539242..225541399-chr1:225541845..225544252,2	MCF-7	breast:
14	chr1:225540127..225543141-chr1:225544972..225548486,4	K562	blood:
15	chr1:225549565..225551972-chr1:225560136..225561675,2	K562	blood:
16	chr1:225507669..225509816-chr1:225510822..225512373,3	K562	blood:
17	chr1:225539242..225541399-chr1:225541845..225544252,2	MCF-7	breast:
18	chr1:225549684..225551436-chr1:225553572..225555467,2	K562	blood:
19	chr1:225552393..225554542-chr1:225560951..225562986,2	K562	blood:
20	chr1:225507669..225509816-chr1:225510822..225512373,3	K562	blood:
21	chr1:225528499..225531078-chr1:225533837..225535776,2	K562	blood:
22	chr1:225537534..225539602-chr1:225550916..225553451,2	K562	blood:
23	chr1:225528499..225531078-chr1:225532986..225535776,3	K562	blood:
24	chr1:225537288..225539034-chr1:225551951..225554490,2	K562	blood:
25	chr1:225552393..225554542-chr1:225560951..225562986,2	K562	blood:
26	chr1:225487478..225490427-chr1:225503792..225505643,2	K562	blood:
27	chr1:225547542..225550580-chr1:225551460..225555926,4	MCF-7	breast:
28	chr1:225540074..225543141-chr1:225544972..225548275,3	K562	blood:
29	chr1:225549684..225551436-chr1:225553572..225555467,2	K562	blood:
30	chr1:225339059..225340673-chr1:225341407..225343124,2	K562	blood:
31	chr1:225465995..225468148-chr1:225470406..225472141,2	K562	blood:
32	chr1:225506556..225507373-chr1:225531091..225531759,2	MCF-7	breast:
33	chr1:225549565..225551972-chr1:225560136..225561675,2	K562	blood:
34	chr1:225488601..225490317-chr1:225494794..225496298,2	MCF-7	breast:
35	chr1:225487478..225490427-chr1:225503792..225505643,2	K562	blood:
36	chr1:225040443..225041021-chr1:225531064..225531583,2	MCF-7	breast:
37	chr1:225465995..225468148-chr1:225470406..225472141,2	K562	blood:

Variant related genes	Relation type
DNAH14	TF binding region
DNAH14	CpG island
ENSG00000185842	chromatin interactions

Extended variants
information (count: 5357 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:5357 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561222506	chr1:225339532-225339533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543702418	chr1:225339569-225339570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564565510	chr1:225339570-225339571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376062541	chr1:225339593-225339594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531994451	chr1:225339635-225339636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188545033	chr1:225339644-225339645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559153394	chr1:225339680-225339681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115743416	chr1:225339732-225339733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78335375	chr1:225339745-225339746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569858510	chr1:225339748-225339749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530875769	chr1:225339751-225339752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552479805	chr1:225339752-225339753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529938886	chr1:225339780-225339781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372148296	chr1:225339782-225339783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192905176	chr1:225339833-225339834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371572162	chr1:225339836-225339837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538621707	chr1:225339883-225339884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547892430	chr1:225339943-225339944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565999427	chr1:225339949-225339950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73133601	chr1:225340079-225340080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373367539	chr1:225340081-225340082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554788831	chr1:225340163-225340164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141280579	chr1:225340165-225340166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150776097	chr1:225340218-225340219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1842332	chr1:225340241-225340242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs183828198	chr1:225340244-225340245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370451718	chr1:225340313-225340314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73135004	chr1:225340364-225340365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372229433	chr1:225340380-225340381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559411871	chr1:225340402-225340403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17578819	chr1:225340410-225340411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188496398	chr1:225340420-225340421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375432909	chr1:225340436-225340437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191860318	chr1:225340445-225340446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530709450	chr1:225340446-225340447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577893006	chr1:225340508-225340509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552516549	chr1:225340529-225340530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538516167	chr1:225340548-225340549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139949596	chr1:225340564-225340565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183567269	chr1:225340565-225340566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143916022	chr1:225340566-225340567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147234788	chr1:225340603-225340604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536373263	chr1:225340615-225340616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140760573	chr1:225340651-225340652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565368445	chr1:225340656-225340657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569928553	chr1:225340658-225340659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537217065	chr1:225340735-225340736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559203196	chr1:225340743-225340744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534317989	chr1:225340748-225340749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577428384	chr1:225340786-225340787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225301800-225355800	Weak transcription	Pancreas	Pancrea
2	chr1:225322000-225356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225326400-225355800	Weak transcription	Ovary	ovary
4	chr1:225332800-225356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:225334200-225343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:225336600-225341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:225338200-225355600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:225339000-225340400	Enhancers	HSMMtube	muscle
9	chr1:225339200-225339600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:225339200-225340200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:225340400-225344200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:225343200-225343600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:225343400-225344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:225343400-225344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:225343400-225344400	Enhancers	HUVEC	blood vessel
16	chr1:225343600-225344000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:225343600-225344000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:225343600-225344400	Enhancers	Primary T cells from cord blood	blood
19	chr1:225343800-225344400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:225344000-225344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:225344000-225356200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:225353400-225355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:225354800-225357200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:225355400-225356000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:225355400-225356600	Weak transcription	Liver	Liver
26	chr1:225355400-225356800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:225355600-225356800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:225355800-225356400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:225355800-225356800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr1:225355800-225356800	ZNF genes & repeats	Ovary	ovary
31	chr1:225355800-225356800	ZNF genes & repeats	Pancreas	Pancrea
32	chr1:225356000-225356200	Weak transcription	Thymus	Thymus
33	chr1:225356000-225356400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:225356000-225356800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:225356000-225356800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:225356000-225356800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr1:225356000-225356800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr1:225356000-225356800	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr1:225356200-225356400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:225356200-225356600	ZNF genes & repeats	Thymus	Thymus
41	chr1:225356200-225356800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:225356200-225356800	ZNF genes & repeats	Fetal Stomach	stomach
43	chr1:225356400-225357600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:225356600-225356800	ZNF genes & repeats	Liver	Liver
45	chr1:225356800-225357000	Weak transcription	Liver	Liver
46	chr1:225356800-225357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:225356800-225357200	Weak transcription	Fetal Intestine Large	intestine
48	chr1:225356800-225365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:225356800-225365200	Weak transcription	Pancreas	Pancrea
50	chr1:225365200-225365600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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