Variant report

Variant	esv1811153
Chromosome Location	chr22:20489583-20708324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2656)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2656 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20704837-20705151	GM12878	blood:	n/a	n/a
2	BATF	chr22:20616340-20616801	GM12878	blood:	n/a	n/a
3	BATF	chr22:20701125-20701590	GM12878	blood:	n/a	n/a
4	BATF	chr22:20636132-20636339	GM12878	blood:	n/a	n/a
5	BATF	chr22:20644442-20644764	GM12878	blood:	n/a	n/a
6	BATF	chr22:20695672-20695836	GM12878	blood:	n/a	n/a
7	BATF	chr22:20616411-20616668	GM12878	blood:	n/a	n/a
8	BATF	chr22:20641879-20642092	GM12878	blood:	n/a	n/a
9	BATF	chr22:20645172-20645444	GM12878	blood:	n/a	n/a
10	BATF	chr22:20656807-20657022	GM12878	blood:	n/a	n/a
11	BATF	chr22:20692282-20692504	GM12878	blood:	n/a	n/a
12	BATF	chr22:20682994-20683256	GM12878	blood:	n/a	n/a
13	BATF	chr22:20638331-20638633	GM12878	blood:	n/a	n/a
14	BATF	chr22:20707505-20707718	GM12878	blood:	n/a	n/a
15	BATF	chr22:20689083-20689339	GM12878	blood:	n/a	n/a
16	BATF	chr22:20638703-20639091	GM12878	blood:	n/a	n/a
17	BATF	chr22:20645707-20646003	GM12878	blood:	n/a	n/a
18	BATF	chr22:20647979-20648465	GM12878	blood:	n/a	n/a
19	BATF	chr22:20632604-20632963	GM12878	blood:	n/a	n/a
20	BATF	chr22:20700720-20701058	GM12878	blood:	n/a	n/a
21	BATF	chr22:20682993-20683344	GM12878	blood:	n/a	n/a
22	BATF	chr22:20704152-20704420	GM12878	blood:	n/a	n/a
23	BATF	chr22:20642857-20643076	GM12878	blood:	n/a	n/a
24	BATF	chr22:20653748-20653932	GM12878	blood:	n/a	n/a
25	BATF	chr22:20695109-20695381	GM12878	blood:	n/a	chr22:20695212-20695223
26	BATF	chr22:20697648-20697855	GM12878	blood:	n/a	n/a
27	BATF	chr22:20689355-20689818	GM12878	blood:	n/a	n/a
28	BATF	chr22:20692280-20692501	GM12878	blood:	n/a	n/a
29	BATF	chr22:20705452-20705653	GM12878	blood:	n/a	chr22:20705604-20705614
30	BATF	chr22:20688976-20689337	GM12878	blood:	n/a	n/a
31	BATF	chr22:20636170-20636366	GM12878	blood:	n/a	n/a
32	BATF	chr22:20637411-20637643	GM12878	blood:	n/a	n/a
33	BATF	chr22:20630770-20630976	GM12878	blood:	n/a	n/a
34	BATF	chr22:20656731-20656911	GM12878	blood:	n/a	n/a
35	BATF	chr22:20633350-20633665	GM12878	blood:	n/a	n/a
36	BATF	chr22:20643880-20644141	GM12878	blood:	n/a	chr22:20644015-20644026 chr22:20644016-20644026
37	BATF	chr22:20689408-20689810	GM12878	blood:	n/a	n/a
38	BATF	chr22:20654184-20654475	GM12878	blood:	n/a	n/a
39	BATF	chr22:20705491-20705797	GM12878	blood:	n/a	chr22:20705604-20705614
40	BATF	chr22:20639219-20639426	GM12878	blood:	n/a	n/a
41	BATF	chr22:20691456-20691792	GM12878	blood:	n/a	n/a
42	BATF	chr22:20706564-20706772	GM12878	blood:	n/a	n/a
43	BATF	chr22:20639668-20640284	GM12878	blood:	n/a	n/a
44	BATF	chr22:20626983-20627230	GM12878	blood:	n/a	n/a
45	BATF	chr22:20691434-20691787	GM12878	blood:	n/a	n/a
46	BATF	chr22:20648532-20648833	GM12878	blood:	n/a	n/a
47	BATF	chr22:20643770-20644104	GM12878	blood:	n/a	chr22:20644015-20644026 chr22:20644016-20644026
48	BATF	chr22:20622314-20622678	GM12878	blood:	n/a	n/a
49	BATF	chr22:20638742-20638956	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:20631031-20631209	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20670922-20670972	ECC-1	luminal epithelium:	n/a
2	chr22:20639089-20639139	GM12892	blood:	n/a
3	chr22:20641735-20641785	NH-A	brain:	n/a
4	chr22:20504411-20504461	HMEC	breast:	n/a
5	chr22:20670922-20670972	HUVEC	blood vessel:	n/a
6	chr22:20640123-20640173	NHDF-neo	bronchial:	n/a
7	chr22:20641735-20641785	HCT-116	colon:	n/a
8	chr22:20640332-20640382	HMEC	breast:	n/a
9	chr22:20641735-20641785	HCF	heart:	n/a
10	chr22:20504411-20504461	U87	brain:	n/a
11	chr22:20639089-20639139	HMEC	breast:	n/a
12	chr22:20641735-20641785	LNCaP	prostate:	n/a
13	chr22:20504411-20504461	HRPEpiC	eye:	n/a
14	chr22:20504411-20504461	HCT-116	colon:	n/a
15	chr22:20641735-20641785	BJ	skin:	n/a
16	chr22:20639089-20639139	Caco-2	colon:	n/a
17	chr22:20504411-20504461	HUVEC	blood vessel:	n/a
18	chr22:20670922-20670972	ovcar-3	ovarian:	n/a
19	chr22:20502597-20502647	HCPEpiC	choroid plexus:	n/a
20	chr22:20670922-20670972	MCF-7	breast:	n/a
21	chr22:20670922-20670972	Hepatocyte	liver:	n/a
22	chr22:20706928-20706978	HMEC	breast:	n/a
23	chr22:20639089-20639139	GM19239	blood:	n/a
24	chr22:20706928-20706978	T-47D	breast:	n/a
25	chr22:20670922-20670972	A549	lung:	n/a
26	chr22:20502597-20502647	GM12891	blood:	n/a
27	chr22:20640123-20640173	HCM	heart:	n/a
28	chr22:20640332-20640382	HUVEC	blood vessel:	n/a
29	chr22:20670922-20670972	Jurkat	blood:	n/a
30	chr22:20670922-20670972	HEK293	kidney:	embryo
31	chr22:20504411-20504461	HEK293	kidney:	embryo
32	chr22:20706928-20706978	ovcar-3	ovarian:	n/a
33	chr22:20670922-20670972	MCF10A-Er-Src	breast:	n/a
34	chr22:20640123-20640173	SAEC	small airway:	n/a
35	chr22:20641735-20641785	HAEpiC	amniotic membrane:	n/a
36	chr22:20670922-20670972	SKMC	muscle:	n/a
37	chr22:20640123-20640173	Jurkat	blood:	n/a
38	chr22:20639089-20639139	BE2_C	brain:	n/a
39	chr22:20502597-20502647	RPTEC	kidney:	n/a
40	chr22:20640332-20640382	T-47D	breast:	n/a
41	chr22:20640123-20640173	AG09319	gingival:	n/a
42	chr22:20639089-20639139	ECC-1	luminal epithelium:	n/a
43	chr22:20639089-20639139	Hepatocyte	liver:	n/a
44	chr22:20640332-20640382	PANC-1	pancreas:	n/a
45	chr22:20639089-20639139	NH-A	brain:	n/a
46	chr22:20641735-20641785	GM12891	blood:	n/a
47	chr22:20670922-20670972	GM12878	blood:	n/a
48	chr22:20641735-20641785	AG04450	lung:	fetal
49	chr22:20640332-20640382	SK-N-SH_RA	brain:	n/a
50	chr22:20502597-20502647	AG09319	gingival:	n/a

No data

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP41-1	chr22:20660211-20660269	ENSG00000223579
2	lnc-USP41-1	chr22:20656688-20656782	ENSG00000223579
3	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
4	lnc-USP41-1	chr22:20656688-20656828	ENSG00000223579
5	lnc-ZNF74-2	chr22:20644408-20644523	ENSG00000227005
6	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
7	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
8	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
9	lnc-USP41-1	chr22:20632132-20632559	ENSG00000223579
10	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
11	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
12	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
13	lnc-ZNF74-2	chr22:20645733-20645991	ENSG00000227005
14	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
15	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
16	lnc-USP41-1	chr22:20637203-20638159	ENSG00000223579
17	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
18	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
19	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
20	lnc-USP41-1	chr22:20640968-20641015	ENSG00000223579
21	lnc-USP41-1	chr22:20640889-20641015	ENSG00000223579
22	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
23	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
24	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
25	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
26	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
27	lnc-USP41-1	chr22:20661121-20661407	ENSG00000223579
28	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000223579	TF binding region
ENSG00000216522	TF binding region
PPP1R26P2	TF binding region
PPP1R26P3	TF binding region
FAM230A	TF binding region
ENSG00000227005	TF binding region
CA15P2	CpG island
ENSG00000223579	CpG island
ENSG00000216522	CpG island
PPP1R26P2	CpG island
PPP1R26P3	CpG island
FAM230A	CpG island
ENSG00000227005	CpG island

Extended variants
information (count: 917 )
Associated
traits (count: 241 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528381246	chr22:20489712-20489713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs5753119	chr22:20489798-20489799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4820843	chr22:20490194-20490195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4820842	chr22:20490201-20490202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186826823	chr22:20490203-20490204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530607804	chr22:20490223-20490224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550725381	chr22:20490266-20490267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560987529	chr22:20490327-20490328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200344658	chr22:20490350-20490351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201343605	chr22:20490389-20490390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs936773	chr22:20490428-20490429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs936774	chr22:20490447-20490448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371184720	chr22:20490511-20490512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568278804	chr22:20490529-20490530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539010227	chr22:20490568-20490569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533951088	chr22:20490635-20490636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4820841	chr22:20490661-20490662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569384130	chr22:20490712-20490713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62219245	chr22:20490767-20490768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537924004	chr22:20490889-20490890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372542082	chr22:20491243-20491244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200766117	chr22:20491292-20491293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372060398	chr22:20491329-20491330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573085441	chr22:20491374-20491375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545011383	chr22:20491380-20491381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1837386	chr22:20491412-20491413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62219247	chr22:20491456-20491457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs5749083	chr22:20491664-20491665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529817500	chr22:20491726-20491727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs5994295	chr22:20491727-20491728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546571510	chr22:20491805-20491806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559931919	chr22:20491806-20491807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111940581	chr22:20492340-20492341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201379812	chr22:20492429-20492430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201548459	chr22:20492538-20492539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547302626	chr22:20503763-20503764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529407664	chr22:20505868-20505869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376164798	chr22:20506289-20506290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs3859760	chr22:20506957-20506958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113702046	chr22:20507050-20507051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs3859759	chr22:20507128-20507129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs1581154	chr22:20507132-20507133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs112091641	chr22:20507142-20507143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs9618865	chr22:20507452-20507453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549391781	chr22:20507786-20507787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs5747617	chr22:20507901-20507902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs527571888	chr22:20508015-20508016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62219963	chr22:20508025-20508026	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547643899	chr22:20508041-20508042	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149354320	chr22:20508093-20508094	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:241)

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
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
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20508000-20508600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:20656400-20657600	Weak transcription	HUVEC	blood vessel
3	chr22:20657000-20657800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
4	chr22:20657000-20658000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr22:20657000-20658000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr22:20657000-20658000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr22:20657200-20657400	Bivalent/Poised TSS	Right Atrium	heart
8	chr22:20657200-20657600	Weak transcription	Fetal Lung	lung
9	chr22:20657200-20657800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:20657200-20657800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:20657200-20657800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:20657200-20658000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:20657200-20658000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr22:20657200-20658000	Active TSS	Liver	Liver
18	chr22:20657400-20657800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr22:20657400-20657800	Bivalent Enhancer	Right Atrium	heart
20	chr22:20657600-20657800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr22:20657600-20657800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:20657600-20657800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:20657600-20657800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr22:20657600-20657800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr22:20657600-20657800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:20657600-20657800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:20657600-20657800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:20657600-20657800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
29	chr22:20657600-20657800	Enhancers	Brain Hippocampus Middle	brain
30	chr22:20657600-20657800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
31	chr22:20657600-20657800	ZNF genes & repeats	Fetal Lung	lung
32	chr22:20657600-20657800	ZNF genes & repeats	Gastric	stomach
33	chr22:20657600-20657800	ZNF genes & repeats	Left Ventricle	heart
34	chr22:20657600-20657800	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
35	chr22:20657600-20657800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
36	chr22:20657600-20657800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr22:20657600-20657800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr22:20657600-20657800	Enhancers	Right Ventricle	heart
39	chr22:20657600-20657800	Enhancers	Spleen	Spleen
40	chr22:20657600-20657800	ZNF genes & repeats	HUVEC	blood vessel
41	chr22:20657600-20657800	ZNF genes & repeats	NHEK	skin
42	chr22:20657600-20658000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:20657600-20658000	ZNF genes & repeats	Fetal Brain Male	brain
44	chr22:20657600-20658000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr22:20657800-20658000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:20657800-20658000	Flanking Active TSS	HUVEC	blood vessel
47	chr22:20657800-20659600	Weak transcription	Gastric	stomach
48	chr22:20657800-20659600	Weak transcription	Left Ventricle	heart
49	chr22:20659600-20659800	Enhancers	Left Ventricle	heart
50	chr22:20707000-20707400	Enhancers	HMEC	breast

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