Variant report

Variant	esv3385645
Chromosome Location	chr22:20326812-20689666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5286)
CpG islands
(count:1894)
Chromatin interactive
region (count:1)
LncRNA
region (count:45)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5286 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20647979-20648465	GM12878	blood:	n/a	n/a
2	BATF	chr22:20343122-20343360	GM12878	blood:	n/a	n/a
3	BATF	chr22:20682993-20683344	GM12878	blood:	n/a	n/a
4	BATF	chr22:20656807-20657022	GM12878	blood:	n/a	n/a
5	BATF	chr22:20338681-20338942	GM12878	blood:	n/a	chr22:20338830-20338841 chr22:20338831-20338841
6	BATF	chr22:20630770-20630976	GM12878	blood:	n/a	n/a
7	BATF	chr22:20343423-20343848	GM12878	blood:	n/a	n/a
8	BATF	chr22:20330888-20331095	GM12878	blood:	n/a	n/a
9	BATF	chr22:20333989-20334290	GM12878	blood:	n/a	n/a
10	BATF	chr22:20645172-20645444	GM12878	blood:	n/a	n/a
11	BATF	chr22:20616411-20616668	GM12878	blood:	n/a	n/a
12	BATF	chr22:20636132-20636339	GM12878	blood:	n/a	n/a
13	BATF	chr22:20638703-20639091	GM12878	blood:	n/a	n/a
14	BATF	chr22:20334357-20334843	GM12878	blood:	n/a	n/a
15	BATF	chr22:20644442-20644764	GM12878	blood:	n/a	n/a
16	BATF	chr22:20348946-20349197	GM12878	blood:	n/a	n/a
17	BATF	chr22:20378235-20378418	GM12878	blood:	n/a	n/a
18	BATF	chr22:20342284-20342877	GM12878	blood:	n/a	n/a
19	BATF	chr22:20359857-20360194	GM12878	blood:	n/a	n/a
20	BATF	chr22:20638331-20638633	GM12878	blood:	n/a	n/a
21	BATF	chr22:20638742-20638956	GM12878	blood:	n/a	n/a
22	BATF	chr22:20445015-20445218	GM12878	blood:	n/a	n/a
23	BATF	chr22:20682994-20683256	GM12878	blood:	n/a	n/a
24	BATF	chr22:20689355-20689818	GM12878	blood:	n/a	n/a
25	BATF	chr22:20343864-20344220	GM12878	blood:	n/a	n/a
26	BATF	chr22:20654184-20654475	GM12878	blood:	n/a	n/a
27	BATF	chr22:20343121-20343327	GM12878	blood:	n/a	n/a
28	BATF	chr22:20637411-20637643	GM12878	blood:	n/a	n/a
29	BATF	chr22:20616340-20616801	GM12878	blood:	n/a	n/a
30	BATF	chr22:20688976-20689337	GM12878	blood:	n/a	n/a
31	BATF	chr22:20645707-20646003	GM12878	blood:	n/a	n/a
32	BATF	chr22:20427669-20427862	GM12878	blood:	n/a	n/a
33	BATF	chr22:20648532-20648833	GM12878	blood:	n/a	n/a
34	BATF	chr22:20329649-20329893	GM12878	blood:	n/a	n/a
35	BATF	chr22:20639219-20639426	GM12878	blood:	n/a	n/a
36	BATF	chr22:20343595-20343809	GM12878	blood:	n/a	n/a
37	BATF	chr22:20656731-20656911	GM12878	blood:	n/a	n/a
38	BATF	chr22:20653748-20653932	GM12878	blood:	n/a	n/a
39	BATF	chr22:20622314-20622678	GM12878	blood:	n/a	n/a
40	BATF	chr22:20641879-20642092	GM12878	blood:	n/a	n/a
41	BATF	chr22:20642857-20643076	GM12878	blood:	n/a	n/a
42	BATF	chr22:20344908-20345140	GM12878	blood:	n/a	n/a
43	BATF	chr22:20689408-20689810	GM12878	blood:	n/a	n/a
44	BATF	chr22:20337378-20337650	GM12878	blood:	n/a	n/a
45	BATF	chr22:20365733-20366145	GM12878	blood:	n/a	n/a
46	BATF	chr22:20346212-20346419	GM12878	blood:	n/a	n/a
47	BATF	chr22:20626983-20627230	GM12878	blood:	n/a	n/a
48	BATF	chr22:20379205-20379431	GM12878	blood:	n/a	n/a
49	BATF	chr22:20378615-20378824	GM12878	blood:	n/a	n/a
50	BATF	chr22:20633350-20633665	GM12878	blood:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20639089-20639139	AG10803	skin:	n/a
2	chr22:20428109-20428159	AG09319	gingival:	n/a
3	chr22:20428109-20428159	ProgFib	skin:	n/a
4	chr22:20639089-20639139	AG10803	skin:	n/a
5	chr22:20428109-20428159	AG09319	gingival:	n/a
6	chr22:20428109-20428159	ProgFib	skin:	n/a
7	chr22:20485872-20485922	AG09319	gingival:	n/a
8	chr22:20399601-20399651	BE2_C	brain:	n/a
9	chr22:20423500-20423550	HAEpiC	amniotic membrane:	n/a
10	chr22:20462514-20462564	Hela-S3	cervix:	n/a
11	chr22:20484804-20484854	ovcar-3	ovarian:	n/a
12	chr22:20341137-20341187	A549	lung:	n/a
13	chr22:20639089-20639139	GM06990	blood:	n/a
14	chr22:20423500-20423550	NT2-D1	testis:	n/a
15	chr22:20456706-20456756	SKMC	muscle:	n/a
16	chr22:20456706-20456756	SK-N-MC	brain:	n/a
17	chr22:20342562-20342612	HIPEpiC	eye:	n/a
18	chr22:20384320-20384370	SK-N-SH_RA	brain:	n/a
19	chr22:20342520-20342570	GM12878	blood:	n/a
20	chr22:20639089-20639139	BE2_C	brain:	n/a
21	chr22:20462514-20462564	HUVEC	blood vessel:	n/a
22	chr22:20483668-20483718	SKMC	muscle:	n/a
23	chr22:20484804-20484854	BJ	skin:	n/a
24	chr22:20399974-20400024	HCM	heart:	n/a
25	chr22:20640123-20640173	LNCaP	prostate:	n/a
26	chr22:20670922-20670972	T-47D	breast:	n/a
27	chr22:20378532-20378582	PANC-1	pancreas:	n/a
28	chr22:20381640-20381690	CMK	blood:	n/a
29	chr22:20399601-20399651	NHDF-neo	bronchial:	n/a
30	chr22:20428109-20428159	NHDF-neo	bronchial:	n/a
31	chr22:20460068-20460118	Caco-2	colon:	n/a
32	chr22:20460068-20460118	NT2-D1	testis:	n/a
33	chr22:20639089-20639139	HCM	heart:	n/a
34	chr22:20399601-20399651	CMK	blood:	n/a
35	chr22:20342562-20342612	IMR90	lung:	fetal
36	chr22:20670922-20670972	HepG2	liver:	n/a
37	chr22:20378953-20379003	U87	brain:	n/a
38	chr22:20640332-20640382	GM12878	blood:	n/a
39	chr22:20640332-20640382	CMK	blood:	n/a
40	chr22:20670922-20670972	SK-N-SH_RA	brain:	n/a
41	chr22:20399974-20400024	HRE	kidney:	n/a
42	chr22:20456706-20456756	AoSMC	blood vessel:	n/a
43	chr22:20400015-20400065	LNCaP	prostate:	n/a
44	chr22:20640332-20640382	AG04450	lung:	fetal
45	chr22:20378532-20378582	SAEC	small airway:	n/a
46	chr22:20343300-20343350	HCPEpiC	choroid plexus:	n/a
47	chr22:20400015-20400065	GM12891	blood:	n/a
48	chr22:20456706-20456756	PANC-1	pancreas:	n/a
49	chr22:20464947-20464997	A549	lung:	n/a
50	chr22:20384320-20384370	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:

(count:45 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DGCR6L-1	chr22:20330726-20331038	XLOC_014300
2	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
3	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
4	lnc-AC007663.1-2	chr22:20329047-20329071	ENSG00000188424.4
5	lnc-USP41-1	chr22:20640968-20641015	ENSG00000223579
6	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
7	lnc-USP41-1	chr22:20632132-20632559	ENSG00000223579
8	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
9	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
10	lnc-AC007663.1-5	chr22:20404157-20404240	XLOC_014158
11	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
12	lnc-AC007663.1-2	chr22:20339072-20339133	ENSG00000188424.4
13	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
14	lnc-AC007663.1-2	chr22:20342936-20342955	ENSG00000188424.4
15	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
16	lnc-AC007663.1-5	chr22:20420432-20420591	XLOC_014158
17	lnc-ZNF74-2	chr22:20644408-20644523	ENSG00000227005
18	lnc-USP41-1	chr22:20656688-20656828	ENSG00000223579
19	lnc-AC007663.1-5	chr22:20401139-20401184	XLOC_014158
20	lnc-AC007663.1-2	chr22:20332017-20332103	ENSG00000188424.4
21	lnc-RIMBP3-1	chr22:20455669-20455969	NONHSAT083514
22	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
23	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
24	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
25	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
26	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
27	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
28	lnc-GGTLC3-1	chr22:20337736-20338450	ENSG00000230410
29	lnc-AC007663.1-2	chr22:20337006-20337071	ENSG00000188424.4
30	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
31	lnc-USP41-1	chr22:20656688-20656782	ENSG00000223579
32	lnc-USP41-1	chr22:20637203-20638159	ENSG00000223579
33	lnc-ZNF74-2	chr22:20645733-20645991	ENSG00000227005
34	lnc-GGTLC3-1	chr22:20341010-20341114	ENSG00000230410
35	lnc-USP41-1	chr22:20660211-20660269	ENSG00000223579
36	lnc-AC007663.1-2	chr22:20339599-20339632	ENSG00000188424.4
37	lnc-USP41-1	chr22:20661121-20661407	ENSG00000223579
38	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
39	lnc-GGTLC3-1	chr22:20338334-20338449	ENSG00000230410
40	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
41	lnc-GGTLC3-1	chr22:20336866-20337124	ENSG00000230410
42	lnc-AC007663.1-2	chr22:20328520-20328578	ENSG00000188424.4
43	lnc-USP41-1	chr22:20640889-20641015	ENSG00000223579
44	lnc-DGCR6L-1	chr22:20331756-20331888	XLOC_014300
45	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000235704	TF binding region
ENSG00000206176	TF binding region
ENSG00000252024	TF binding region
ENSG00000236984	TF binding region
GGTLC3	TF binding region
ENSG00000230410	TF binding region
RIMBP3	TF binding region
ENSG00000223579	TF binding region
PPP1R26P2	TF binding region
ENSG00000271796	TF binding region
ENSG00000216522	TF binding region
ENSG00000235578	TF binding region
PI4KAP1	TF binding region
ENSG00000252571	TF binding region
PPP1R26P3	TF binding region
FAM230A	TF binding region
ENSG00000227005	TF binding region
RN7SKP131	TF binding region
CA15P2	CpG island
ENSG00000235704	CpG island
ENSG00000206176	CpG island
ENSG00000252024	CpG island
ENSG00000236984	CpG island
GGTLC3	CpG island
ENSG00000230410	CpG island
RIMBP3	CpG island
ENSG00000223579	CpG island
PPP1R26P2	CpG island
ENSG00000271796	CpG island
ENSG00000216522	CpG island
ENSG00000235578	CpG island
PI4KAP1	CpG island
ENSG00000252571	CpG island
PPP1R26P3	CpG island
FAM230A	CpG island
ENSG00000227005	CpG island
RN7SKP131	CpG island
ENSG00000161179	chromatin interactions
AGFG1	miRNA target sites
E2F1	miRNA target sites
AFTPH	miRNA target sites

Extended variants
information (count: 1882 )
Associated
traits (count: 245 )

Variant overlapped rSNPs/rCNVs (count:1882 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201615445	chr22:20326832-20326833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533988831	chr22:20326857-20326858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113930890	chr22:20326862-20326863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111747075	chr22:20326875-20326876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113817106	chr22:20326880-20326881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569610070	chr22:20326916-20326917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372240024	chr22:20326952-20326953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183604489	chr22:20326953-20326954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577032639	chr22:20326970-20326971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112599539	chr22:20328547-20328548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs547591564	chr22:20330605-20330606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4018813	chr22:20330735-20330736	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs9617876	chr22:20330744-20330745	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539528976	chr22:20330747-20330748	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs556031423	chr22:20330764-20330765	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373123776	chr22:20330787-20330788	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs569586825	chr22:20330797-20330798	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs4018816	chr22:20330809-20330810	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs535113414	chr22:20330823-20330824	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200523566	chr22:20330873-20330874	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs111415440	chr22:20330874-20330875	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4018818	chr22:20330895-20330896	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555990922	chr22:20330899-20330900	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373397068	chr22:20330909-20330910	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs572630620	chr22:20330913-20330914	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs10439904	chr22:20331006-20331007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs199869401	chr22:20331774-20331775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs577864632	chr22:20331798-20331799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200905764	chr22:20331799-20331800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs112087794	chr22:20331888-20331889	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs543467015	chr22:20332164-20332165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563644568	chr22:20332165-20332166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs470612	chr22:20332318-20332319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559794	chr22:20332355-20332356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529255526	chr22:20332453-20332454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112101395	chr22:20332459-20332460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559722747	chr22:20332806-20332807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs202091382	chr22:20333081-20333082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200005360	chr22:20333095-20333096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200957059	chr22:20333114-20333115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201957477	chr22:20333136-20333137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372434193	chr22:20333229-20333230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202057329	chr22:20333277-20333278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200097828	chr22:20333301-20333302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs527567039	chr22:20333436-20333437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145999147	chr22:20333466-20333467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201201947	chr22:20333467-20333468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs202099643	chr22:20333485-20333486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547752222	chr22:20333494-20333495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570656258	chr22:20333495-20333496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:245)

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
Myelofibrosis	22110671	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
Breast cancer	17142309	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
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	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
Esophageal cancer	21851588	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
Urothelial carcinoma	21177765	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20962326	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20309200-20327000	Weak transcription	Right Atrium	heart
2	chr22:20330600-20331000	Enhancers	Fetal Heart	heart
3	chr22:20345800-20346400	Enhancers	HepG2	liver
4	chr22:20360600-20361800	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:20365600-20365800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr22:20377000-20377200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:20377000-20377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:20377000-20377400	Enhancers	Dnd41	blood
9	chr22:20377400-20378000	Weak transcription	Dnd41	blood
10	chr22:20378000-20378600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr22:20378000-20378600	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr22:20378000-20379000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr22:20378000-20379000	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr22:20378000-20379000	Active TSS	Primary B cells from peripheral blood	blood
15	chr22:20378000-20379000	Active TSS	Primary T cells fromperipheralblood	blood
16	chr22:20378000-20379000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:20378000-20379000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr22:20378000-20379000	Active TSS	Fetal Stomach	stomach
21	chr22:20378000-20379000	Active TSS	Fetal Thymus	thymus
22	chr22:20378000-20379000	Active TSS	Dnd41	blood
23	chr22:20378000-20379000	Active TSS	HepG2	liver
24	chr22:20378000-20379000	Active TSS	HMEC	breast
25	chr22:20378000-20379200	Active TSS	Brain Germinal Matrix	brain
26	chr22:20378000-20379800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:20378000-20380000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:20378200-20378600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:20378200-20378800	Active TSS	Fetal Muscle Leg	muscle
30	chr22:20378200-20379000	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr22:20378200-20379000	Active TSS	Fetal Intestine Large	intestine
32	chr22:20378200-20379000	Active TSS	HSMM	muscle
33	chr22:20378400-20378800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:20378400-20378800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:20378400-20378800	Active TSS	Ovary	ovary
36	chr22:20378400-20378800	Active TSS	HSMMtube	muscle
37	chr22:20378400-20379000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr22:20378400-20379000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr22:20378400-20379000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr22:20378400-20379000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr22:20378400-20379000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:20378400-20379000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr22:20378400-20379000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:20378400-20379000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr22:20378400-20379000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr22:20378400-20379000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr22:20378400-20379000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:20378400-20379000	Active TSS	Adipose Nuclei	Adipose
49	chr22:20378400-20379000	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:20378400-20379000	Active TSS	Brain Hippocampus Middle	brain

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