Variant report

Variant	nsv914580
Chromosome Location	chr22:23720420-23757964
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	chr22:23746888-23747212	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:23744648-23745063	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
4	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
5	BHLHE40	chr22:23728117-23728404	GM12878	blood:	n/a	n/a
6	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
7	BRCA1	chr22:23728177-23728379	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr22:23723452-23723532	GM12878	blood:	n/a	n/a
9	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
10	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
11	CEBPB	chr22:23751463-23751673	HepG2	liver:	n/a	chr22:23751565-23751576
12	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
13	CEBPB	chr22:23751439-23751687	IMR90	lung:	n/a	chr22:23751565-23751576
14	CEBPB	chr22:23751475-23751656	A549	lung:	n/a	chr22:23751565-23751576
15	CEBPB	chr22:23751529-23751639	H1-hESC	embryonic stem cell:	n/a	chr22:23751565-23751576
16	CHD2	chr22:23728125-23728366	GM12878	blood:	n/a	n/a
17	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr22:23728187-23728423	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr22:23747083-23747102	HepG2	liver:	n/a	n/a
20	CHD2	chr22:23728114-23728387	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
22	CREB1	chr22:23728057-23728438	A549	lung:	n/a	n/a
23	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr22:23728095-23728429	MCF-7	breast:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
25	CTCF	chr22:23744920-23745070	HCT-116	colon:	n/a	chr22:23744976-23744994 chr22:23744979-23744992
26	CTCF	chr22:23744779-23745294	A549	lung:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
27	CTCF	chr22:23745020-23745170	NHDF-neo	bronchial:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
28	CTCF	chr22:23744960-23745110	GM12801	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
29	CTCF	chr22:23745000-23745150	HMF	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
30	CTCF	chr22:23728180-23728330	HUVEC	blood vessel:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
31	CTCF	chr22:23727802-23727859	GM19239	blood:	n/a	n/a
32	CTCF	chr22:23728130-23728423	GM13977	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
33	CTCF	chr22:23728160-23728310	Caco-2	colon:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
34	CTCF	chr22:23744500-23744650	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr22:23728620-23728770	HL-60	blood:	n/a	n/a
36	CTCF	chr22:23745020-23745170	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
37	CTCF	chr22:23730881-23730926	GM20000	blood:	n/a	n/a
38	CTCF	chr22:23728082-23728366	A549	lung:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
39	CTCF	chr22:23728466-23728558	Kidney_OC	kidney:	n/a	chr22:23728501-23728509
40	CTCF	chr22:23744960-23745110	GM12872	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
41	CTCF	chr22:23744912-23745148	GM20000	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
42	CTCF	chr22:23725680-23725830	WERI-Rb-1	eye:	n/a	chr22:23725710-23725723 chr22:23725707-23725725
43	CTCF	chr22:23744980-23745130	NB4	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
44	CTCF	chr22:23744980-23745130	NHEK	skin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
45	CTCF	chr22:23744873-23745159	GM19239	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
46	CTCF	chr22:23728101-23728444	H1-hESC	embryonic stem cell:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
47	CTCF	chr22:23728542-23728613	Gliobla	brain:	n/a	n/a
48	CTCF	chr22:23728800-23728950	BJ	skin:	n/a	n/a
49	CTCF	chr22:23744960-23745110	WERI-Rb-1	eye:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
50	CTCF	chr22:23728200-23728350	NB4	blood:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23728539-23728589	HCF	heart:	n/a
2	chr22:23745389-23745439	BE2_C	brain:	n/a
3	chr22:23728539-23728589	HCF	heart:	n/a
4	chr22:23745389-23745439	BE2_C	brain:	n/a
5	chr22:23745389-23745439	AG10803	skin:	n/a
6	chr22:23727927-23727977	AG09319	gingival:	n/a
7	chr22:23730507-23730557	HNPCEpiC	eye:	n/a
8	chr22:23730507-23730557	CMK	blood:	n/a
9	chr22:23729011-23729061	SK-N-MC	brain:	n/a
10	chr22:23744717-23744767	HCM	heart:	n/a
11	chr22:23745389-23745439	NH-A	brain:	n/a
12	chr22:23730507-23730557	HRCEpiC	kidney:	n/a
13	chr22:23745076-23745126	PFSK-1	brain:	n/a
14	chr22:23730283-23730333	NT2-D1	testis:	n/a
15	chr22:23744725-23744775	HNPCEpiC	eye:	n/a
16	chr22:23745131-23745181	HCM	heart:	n/a
17	chr22:23745076-23745126	GM12878	blood:	n/a
18	chr22:23730283-23730333	HRPEpiC	eye:	n/a
19	chr22:23745389-23745439	GM12891	blood:	n/a
20	chr22:23745076-23745126	NT2-D1	testis:	n/a
21	chr22:23727927-23727977	U87	brain:	n/a
22	chr22:23745076-23745126	HL-60	blood:	n/a
23	chr22:23733812-23733862	AG04450	lung:	fetal
24	chr22:23745076-23745126	HEEpiC	esophagus:	n/a
25	chr22:23727927-23727977	MCF-7	breast:	n/a
26	chr22:23745389-23745439	SKMC	muscle:	n/a
27	chr22:23745076-23745126	SK-N-SH	brain:	n/a
28	chr22:23728539-23728589	HCPEpiC	choroid plexus:	n/a
29	chr22:23730283-23730333	HL-60	blood:	n/a
30	chr22:23745131-23745181	H1-hESC	embryonic stem cell:	embryo
31	chr22:23730507-23730557	NT2-D1	testis:	n/a
32	chr22:23730283-23730333	GM12891	blood:	n/a
33	chr22:23727927-23727977	HAEpiC	amniotic membrane:	n/a
34	chr22:23730283-23730333	MCF-7	breast:	n/a
35	chr22:23730283-23730333	AG09319	gingival:	n/a
36	chr22:23733812-23733862	H1-hESC	embryonic stem cell:	embryo
37	chr22:23744717-23744767	ProgFib	skin:	n/a
38	chr22:23744928-23744978	A549	lung:	n/a
39	chr22:23744725-23744775	AG04449	skin:	fetal
40	chr22:23727927-23727977	AG04449	skin:	fetal
41	chr22:23732191-23732241	IMR90	lung:	fetal
42	chr22:23727927-23727977	AG04450	lung:	fetal
43	chr22:23745131-23745181	HepG2	liver:	n/a
44	chr22:23733812-23733862	SK-N-SH_RA	brain:	n/a
45	chr22:23744717-23744767	T-47D	breast:	n/a
46	chr22:23745131-23745181	GM12891	blood:	n/a
47	chr22:23733812-23733862	HL-60	blood:	n/a
48	chr22:23745131-23745181	HRPEpiC	eye:	n/a
49	chr22:23733812-23733862	HAEpiC	amniotic membrane:	n/a
50	chr22:23727927-23727977	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
2	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
3	chr22:23664524..23665241-chr22:23727504..23728710,4	MCF-7	breast:
4	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:
5	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
6	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
7	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
8	chr22:23301211..23301928-chr22:23727836..23728728,3	MCF-7	breast:
9	chr22:23733508..23735532-chr22:23736840..23739183,2	MCF-7	breast:
10	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
11	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
12	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:
13	chr22:23301210..23302026-chr22:23727802..23728448,2	MCF-7	breast:
14	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
15	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
16	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
17	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
18	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
19	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
20	chr22:23301153..23301965-chr22:23727829..23728713,3	K562	blood:
21	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
22	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
23	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
24	chr22:23713708..23715595-chr22:23719282..23721886,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880
2	lnc-BCR-3	chr22:23723132-23723248	NONHSAT083879
3	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882
4	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
5	lnc-BCR-3	chr22:23723434-23723530	NONHSAT083879
6	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
7	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882
8	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882

Variant related genes	Relation type
CES5AP1	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000040608	chromatin interactions
ENSG00000248409	chromatin interactions
ENSG00000214526	chromatin interactions

Extended variants
information (count: 1949 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:1949 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5019659	chr22:23720420-23720421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80159216	chr22:23720438-23720439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548154120	chr22:23720456-23720457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567980245	chr22:23720499-23720500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138159701	chr22:23720560-23720561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183490484	chr22:23720561-23720562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567210585	chr22:23720578-23720579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5759751	chr22:23720584-23720585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559222922	chr22:23720591-23720592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536835973	chr22:23720607-23720608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547568688	chr22:23720616-23720617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5759752	chr22:23720631-23720632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142269010	chr22:23720644-23720645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554919430	chr22:23720657-23720658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5759753	chr22:23720661-23720662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540481792	chr22:23720688-23720689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5759754	chr22:23720693-23720694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145809231	chr22:23720707-23720708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545574293	chr22:23720708-23720709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562378357	chr22:23720723-23720724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11288981	chr22:23720743-23720744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185875082	chr22:23720768-23720769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548002638	chr22:23720807-23720808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561683594	chr22:23720815-23720816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527279119	chr22:23720816-23720817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5759755	chr22:23720823-23720824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79313876	chr22:23720827-23720828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550405202	chr22:23720833-23720834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567148018	chr22:23720835-23720836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539373089	chr22:23720876-23720877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568589737	chr22:23720992-23720993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386820055	chr22:23721000-23721001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114975196	chr22:23721002-23721003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78027675	chr22:23721004-23721005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78505048	chr22:23721010-23721011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190680195	chr22:23721013-23721014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5759756	chr22:23721020-23721021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553780000	chr22:23721051-23721052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5759757	chr22:23721063-23721064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545707324	chr22:23721071-23721072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562316046	chr22:23721089-23721090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575835807	chr22:23721124-23721125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5751640	chr22:23721148-23721149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376728081	chr22:23721172-23721173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561624596	chr22:23721189-23721190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544816012	chr22:23721267-23721268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533794055	chr22:23721361-23721362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9612338	chr22:23721412-23721413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77522594	chr22:23721416-23721417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111523238	chr22:23721433-23721434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:212)

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	22495311	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
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
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	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
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
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23708800-23728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:23719800-23723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:23722000-23725800	Weak transcription	Spleen	Spleen
4	chr22:23722400-23722600	Enhancers	Placenta	Placenta
5	chr22:23722400-23724600	Enhancers	Gastric	stomach
6	chr22:23722600-23723800	Weak transcription	Placenta	Placenta
7	chr22:23723200-23723600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:23723600-23724200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:23723800-23724400	Enhancers	Placenta	Placenta
10	chr22:23723800-23728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:23724200-23724400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:23724200-23724400	Enhancers	Ovary	ovary
13	chr22:23724400-23725000	Weak transcription	Ovary	ovary
14	chr22:23724400-23726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:23724600-23725000	Weak transcription	Gastric	stomach
16	chr22:23725000-23725800	Enhancers	Ovary	ovary
17	chr22:23725000-23727000	Enhancers	Gastric	stomach
18	chr22:23725000-23728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:23725200-23725400	Enhancers	Fetal Brain Female	brain
20	chr22:23725200-23726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:23725200-23726200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr22:23725200-23726800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:23725200-23727400	Enhancers	Brain Germinal Matrix	brain
24	chr22:23725200-23728600	Enhancers	Fetal Muscle Leg	muscle
25	chr22:23725200-23728800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
27	chr22:23725600-23727000	Enhancers	Fetal Intestine Large	intestine
28	chr22:23725600-23727600	Enhancers	Primary hematopoietic stem cells	blood
29	chr22:23725600-23728000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:23725600-23728600	Enhancers	Brain Cingulate Gyrus	brain
31	chr22:23725800-23726000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:23725800-23726200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr22:23725800-23726200	Flanking Active TSS	Ovary	ovary
34	chr22:23725800-23726200	Enhancers	Spleen	Spleen
35	chr22:23725800-23726600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:23725800-23726600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:23725800-23726600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr22:23725800-23726600	Bivalent Enhancer	Placenta	Placenta
39	chr22:23725800-23726800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr22:23725800-23726800	Enhancers	HSMMtube	muscle
41	chr22:23725800-23727000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr22:23725800-23727000	Enhancers	Brain Substantia Nigra	brain
43	chr22:23725800-23727000	Enhancers	Fetal Lung	lung
44	chr22:23725800-23727400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr22:23725800-23727600	Enhancers	Brain Hippocampus Middle	brain
46	chr22:23725800-23727800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:23726000-23726200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr22:23726000-23726400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr22:23726000-23726400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:23726000-23726400	Enhancers	Monocytes-CD14+_RO01746	blood

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