Variant report

Variant	nsv966078
Chromosome Location	chr22:20744745-20758321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:547)
CpG islands
(count:733)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:20748054-20748615	K562	blood:	n/a	n/a
2	ATF1	chr22:20748058-20748612	K562	blood:	n/a	n/a
3	ATF1	chr22:20750467-20750931	K562	blood:	n/a	n/a
4	ATF3	chr22:20747364-20749005	K562	blood:	n/a	chr22:20747478-20747487 chr22:20747801-20747812 chr22:20747799-20747812
5	BACH1	chr22:20747992-20749049	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr22:20747788-20748629	K562	blood:	n/a	n/a
7	BACH1	chr22:20748972-20749028	K562	blood:	n/a	n/a
8	BATF	chr22:20750931-20751179	GM12878	blood:	n/a	n/a
9	BATF	chr22:20750882-20751250	GM12878	blood:	n/a	n/a
10	BCLAF1	chr22:20748071-20748673	GM12878	blood:	n/a	chr22:20748439-20748452
11	BHLHE40	chr22:20748037-20749013	K562	blood:	n/a	chr22:20748444-20748460 chr22:20748262-20748278
12	BHLHE40	chr22:20747794-20748735	GM12878	blood:	n/a	chr22:20748444-20748460 chr22:20748262-20748278
13	BRCA1	chr22:20748527-20748616	GM12878	blood:	n/a	n/a
14	BRCA1	chr22:20748116-20748496	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr22:20747804-20747814	GM12878	blood:	n/a	n/a
16	CBX3	chr22:20747494-20749265	K562	blood:	n/a	n/a
17	CBX3	chr22:20747221-20749201	K562	blood:	n/a	n/a
18	CCNT2	chr22:20747884-20747900	K562	blood:	n/a	n/a
19	CCNT2	chr22:20748133-20748913	K562	blood:	n/a	n/a
20	CEBPB	chr22:20748049-20748675	K562	blood:	n/a	n/a
21	CEBPB	chr22:20749023-20749127	K562	blood:	n/a	n/a
22	CEBPB	chr22:20750082-20750128	IMR90	lung:	n/a	n/a
23	CEBPB	chr22:20745402-20745494	HepG2	liver:	n/a	chr22:20745447-20745458
24	CEBPB	chr22:20747257-20747546	IMR90	lung:	n/a	chr22:20747350-20747361
25	CEBPB	chr22:20753839-20754063	K562	blood:	n/a	n/a
26	CEBPB	chr22:20748170-20748605	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr22:20747141-20747817	K562	blood:	n/a	chr22:20747350-20747361 chr22:20747572-20747583
28	CEBPB	chr22:20750515-20751120	K562	blood:	n/a	n/a
29	CEBPB	chr22:20745391-20745601	K562	blood:	n/a	chr22:20745447-20745458
30	CEBPB	chr22:20748187-20748254	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr22:20747210-20747819	K562	blood:	n/a	chr22:20747350-20747361 chr22:20747572-20747583
32	CEBPB	chr22:20747230-20747587	HepG2	liver:	n/a	chr22:20747350-20747361 chr22:20747572-20747583
33	CEBPB	chr22:20749088-20749175	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPD	chr22:20748452-20748685	HepG2	liver:	n/a	n/a
35	CEBPD	chr22:20748125-20748445	HepG2	liver:	n/a	n/a
36	CEBPD	chr22:20747298-20749083	K562	blood:	n/a	n/a
37	CHD1	chr22:20748033-20748333	GM12878	blood:	n/a	n/a
38	CHD2	chr22:20748110-20748515	HepG2	liver:	n/a	n/a
39	CHD2	chr22:20747823-20748718	K562	blood:	n/a	n/a
40	CHD2	chr22:20748142-20748603	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr22:20748114-20748534	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr22:20747932-20748688	GM12878	blood:	n/a	n/a
43	CREB1	chr22:20747995-20748707	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr22:20748009-20749043	HepG2	liver:	n/a	n/a
45	CREB1	chr22:20748100-20748597	ECC-1	luminal epithelium:	n/a	n/a
46	CREB1	chr22:20748012-20748694	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr22:20747944-20748658	GM12878	blood:	n/a	n/a
48	CREB1	chr22:20748097-20748574	A549	lung:	n/a	n/a
49	CTCF	chr22:20748500-20748650	AG09319	gingival:	n/a	n/a
50	CTCF	chr22:20748360-20748510	GM12871	blood:	n/a	chr22:20748438-20748451 chr22:20748445-20748458

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20748269-20748319	AG04450	lung:	fetal
2	chr22:20748269-20748319	AG04450	lung:	fetal
3	chr22:20752751-20752801	NHDF-neo	bronchial:	n/a
4	chr22:20745587-20745637	SK-N-SH_RA	brain:	n/a
5	chr22:20748430-20748480	Hela-S3	cervix:	n/a
6	chr22:20747254-20747304	HL-60	blood:	n/a
7	chr22:20748432-20748482	HEK293	kidney:	embryo
8	chr22:20752751-20752801	ovcar-3	ovarian:	n/a
9	chr22:20748341-20748391	AG09319	gingival:	n/a
10	chr22:20747254-20747304	HepG2	liver:	n/a
11	chr22:20748269-20748319	Caco-2	colon:	n/a
12	chr22:20748445-20748495	A549	lung:	n/a
13	chr22:20748269-20748319	SK-N-SH	brain:	n/a
14	chr22:20748445-20748495	SK-N-SH_RA	brain:	n/a
15	chr22:20748430-20748480	CMK	blood:	n/a
16	chr22:20752751-20752801	PANC-1	pancreas:	n/a
17	chr22:20748332-20748382	GM12878	blood:	n/a
18	chr22:20748909-20748959	AG04450	lung:	fetal
19	chr22:20747254-20747304	U87	brain:	n/a
20	chr22:20748432-20748482	HRE	kidney:	n/a
21	chr22:20748909-20748959	AG04449	skin:	fetal
22	chr22:20747254-20747304	HCPEpiC	choroid plexus:	n/a
23	chr22:20752751-20752801	LNCaP	prostate:	n/a
24	chr22:20745587-20745637	HCT-116	colon:	n/a
25	chr22:20748341-20748391	ProgFib	skin:	n/a
26	chr22:20748909-20748959	Hela-S3	cervix:	n/a
27	chr22:20748318-20748368	SK-N-SH_RA	brain:	n/a
28	chr22:20748332-20748382	LNCaP	prostate:	n/a
29	chr22:20748909-20748959	SKMC	muscle:	n/a
30	chr22:20748318-20748368	PFSK-1	brain:	n/a
31	chr22:20748269-20748319	HL-60	blood:	n/a
32	chr22:20748332-20748382	HRPEpiC	eye:	n/a
33	chr22:20752751-20752801	IMR90	lung:	fetal
34	chr22:20748810-20748860	NB4	blood:	n/a
35	chr22:20748332-20748382	HMEC	breast:	n/a
36	chr22:20748269-20748319	GM19239	blood:	n/a
37	chr22:20748332-20748382	BE2_C	brain:	n/a
38	chr22:20752751-20752801	RPTEC	kidney:	n/a
39	chr22:20745587-20745637	GM12878	blood:	n/a
40	chr22:20748909-20748959	SAEC	small airway:	n/a
41	chr22:20745587-20745637	HL-60	blood:	n/a
42	chr22:20748341-20748391	A549	lung:	n/a
43	chr22:20748810-20748860	AoSMC	blood vessel:	n/a
44	chr22:20748810-20748860	Hepatocyte	liver:	n/a
45	chr22:20748430-20748480	H1-hESC	embryonic stem cell:	embryo
46	chr22:20748432-20748482	K562	blood:	n/a
47	chr22:20745587-20745637	NH-A	brain:	n/a
48	chr22:20745587-20745637	T-47D	breast:	n/a
49	chr22:20748432-20748482	GM12878	blood:	n/a
50	chr22:20748332-20748382	SK-N-MC	brain:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:20747603..20752058-chr22:20875034..20878891,5	K562	blood:
2	chr22:20307048..20310723-chr22:20752794..20755955,4	K562	blood:
3	chr22:20745421..20750259-chr22:20781607..20786254,5	K562	blood:
4	chr22:20757925..20759631-chr22:20829172..20830808,2	K562	blood:
5	chr22:20747658..20750971-chr22:20791257..20794328,4	K562	blood:
6	chr22:20747002..20751315-chr22:20752903..20758331,10	MCF-7	breast:
7	chr22:20744625..20746451-chr22:20748310..20750058,3	MCF-7	breast:
8	chr22:20746688..20748942-chr22:20802779..20804555,2	K562	blood:
9	chr22:20190087..20192901-chr22:20746494..20748889,2	K562	blood:
10	chr22:20748298..20750189-chr22:20750400..20754674,7	MCF-7	breast:
11	chr22:20748074..20749074-chr8:145159437..145160304,2	HCT-116	colon:
12	chr22:20746732..20749235-chr22:20936490..20938949,2	K562	blood:
13	chr22:20746710..20750506-chr22:20848271..20851400,6	K562	blood:
14	chr22:20307048..20310579-chr22:20752794..20755892,3	K562	blood:
15	chr22:20304415..20312117-chr22:20747096..20751443,9	MCF-7	breast:
16	chr22:20747868..20750073-chr22:20782291..20786147,3	K562	blood:
17	chr22:20747603..20749135-chr22:20877322..20878891,2	K562	blood:
18	chr22:20103044..20105998-chr22:20747918..20750566,2	K562	blood:
19	chr22:20747002..20751315-chr22:20752903..20758331,10	MCF-7	breast:
20	chr22:20746710..20748813-chr22:20848271..20851288,3	K562	blood:
21	chr22:20753540..20755196-chr22:20790645..20792516,2	MCF-7	breast:
22	chr22:20747192..20751120-chr22:20789736..20796379,8	K562	blood:
23	chr22:20286655..20288759-chr22:20746416..20749237,2	K562	blood:
24	chr22:20744625..20746451-chr22:20748310..20750058,3	MCF-7	breast:
25	chr22:20750386..20752653-chr22:20772651..20774166,2	K562	blood:
26	chr22:20305008..20309233-chr22:20745056..20749818,6	K562	blood:
27	chr22:20748468..20750257-chr22:20750385..20752866,3	MCF-7	breast:
28	chr22:20745887..20749598-chr22:20860814..20863598,4	K562	blood:
29	chr22:20750300..20752010-chr22:20783990..20786331,3	K562	blood:
30	chr22:20105191..20107434-chr22:20751034..20753753,2	K562	blood:
31	chr22:20745935..20751039-chr22:20860625..20865044,6	K562	blood:
32	chr22:20305880..20308844-chr22:20746915..20751265,6	K562	blood:
33	chr22:20745876..20748666-chr22:21132002..21134652,3	K562	blood:
34	chr22:20756285..20758093-chr22:20779456..20782036,2	K562	blood:
35	chr22:20757186..20759294-chr22:20763016..20765547,3	MCF-7	breast:
36	chr22:20748298..20750189-chr22:20750400..20754674,7	MCF-7	breast:

No data

Variant related genes	Relation type
USP41	TF binding region
ZNF74	TF binding region
USP41	CpG island
ZNF74	CpG island
ENSG00000273139	chromatin interactions
ENSG00000099917	chromatin interactions
ENSG00000273343	chromatin interactions
ENSG00000128185	chromatin interactions
ENSG00000244486	chromatin interactions
ENSG00000161133	chromatin interactions
ENSG00000236003	chromatin interactions
ENSG00000255156	chromatin interactions
ENSG00000215493	chromatin interactions
ENSG00000099901	chromatin interactions
ENSG00000249923	chromatin interactions
ENSG00000099937	chromatin interactions
ENSG00000161132	chromatin interactions
ENSG00000099899	chromatin interactions
ENSG00000185252	chromatin interactions
ENSG00000179632	chromatin interactions
ENSG00000099910	chromatin interactions

Extended variants
information (count: 574 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567173129	chr22:20744784-20744785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547583363	chr22:20744827-20744828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374597332	chr22:20744841-20744842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535918273	chr22:20744914-20744915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115020280	chr22:20744924-20744925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78154936	chr22:20744977-20744978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142097654	chr22:20745000-20745001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567377869	chr22:20745009-20745010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111680966	chr22:20745034-20745035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558269589	chr22:20745040-20745041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188351091	chr22:20745042-20745043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192236977	chr22:20745133-20745134	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs555197952	chr22:20745138-20745139	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs575121088	chr22:20745158-20745159	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs540845126	chr22:20745183-20745184	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs373304876	chr22:20745199-20745200	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs362125	chr22:20745201-20745202	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs28374383	chr22:20745206-20745207	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs34137463	chr22:20745207-20745208	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs532505142	chr22:20745212-20745213	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs546140776	chr22:20745216-20745217	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562785587	chr22:20745223-20745224	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs182994417	chr22:20745259-20745260	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs550493407	chr22:20745275-20745276	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs571208593	chr22:20745299-20745300	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs529802324	chr22:20745302-20745303	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs546497638	chr22:20745344-20745345	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs5760821	chr22:20745380-20745381	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561518306	chr22:20745398-20745399	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs552141342	chr22:20745427-20745428	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs568919714	chr22:20745447-20745448	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs146082453	chr22:20745448-20745449	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs372278801	chr22:20745479-20745480	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs370169911	chr22:20745483-20745484	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs575233702	chr22:20745484-20745485	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs187734340	chr22:20745485-20745486	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs536783347	chr22:20745511-20745512	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs553215731	chr22:20745584-20745585	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs192699902	chr22:20745596-20745597	Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs184729859	chr22:20745604-20745605	Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs5760843	chr22:20745616-20745617	Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs562876562	chr22:20745617-20745618	Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs140040167	chr22:20745622-20745623	Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs372284657	chr22:20745653-20745654	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs545430382	chr22:20745726-20745727	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs560823050	chr22:20745749-20745750	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs143561193	chr22:20745787-20745788	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs117787903	chr22:20745788-20745789	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs560130938	chr22:20745832-20745833	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs567492534	chr22:20745858-20745859	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:229)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Cancer	20164920	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20741200-20747600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:20744000-20747800	Weak transcription	Right Atrium	heart
3	chr22:20744800-20747000	Weak transcription	Spleen	Spleen
4	chr22:20747000-20747800	Enhancers	Spleen	Spleen
5	chr22:20747200-20747400	Enhancers	Dnd41	blood
6	chr22:20747200-20747800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:20747400-20747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells	blood
9	chr22:20747400-20747600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr22:20747400-20747600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr22:20747400-20747600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr22:20747400-20747600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:20747400-20747600	Enhancers	Brain Cingulate Gyrus	brain
15	chr22:20747400-20747600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr22:20747400-20747600	Enhancers	Colon Smooth Muscle	Colon
17	chr22:20747400-20747600	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:20747400-20747600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr22:20747400-20747600	Enhancers	K562	blood
20	chr22:20747400-20747800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr22:20747400-20747800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:20747400-20747800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr22:20747400-20747800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:20747400-20747800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:20747400-20747800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:20747400-20747800	Enhancers	Fetal Brain Female	brain
27	chr22:20747400-20747800	Enhancers	Fetal Muscle Trunk	muscle
28	chr22:20747400-20747800	Enhancers	Pancreas	Pancrea
29	chr22:20747400-20747800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:20747400-20748000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:20747400-20748200	Flanking Active TSS	Dnd41	blood
32	chr22:20747600-20747800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr22:20747600-20747800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr22:20747600-20747800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:20747600-20747800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr22:20747600-20747800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:20747600-20747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr22:20747600-20747800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:20747600-20747800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr22:20747600-20747800	Enhancers	Primary B cells from peripheral blood	blood
41	chr22:20747600-20747800	Enhancers	Primary T cells from cord blood	blood
42	chr22:20747600-20747800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:20747600-20747800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr22:20747600-20747800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr22:20747600-20747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:20747600-20747800	Enhancers	Liver	Liver
47	chr22:20747600-20747800	Enhancers	Brain Angular Gyrus	brain
48	chr22:20747600-20747800	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr22:20747600-20747800	Enhancers	Brain Germinal Matrix	brain
50	chr22:20747600-20747800	Enhancers	Brain Hippocampus Middle	brain

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