Variant report

Variant	esv1841569
Chromosome Location	chr22:20451775-20692945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2471)
CpG islands
(count:980)
Chromatin interactive
region (count:0)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2471 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20633350-20633665	GM12878	blood:	n/a	n/a
2	BATF	chr22:20616340-20616801	GM12878	blood:	n/a	n/a
3	BATF	chr22:20688976-20689337	GM12878	blood:	n/a	n/a
4	BATF	chr22:20641879-20642092	GM12878	blood:	n/a	n/a
5	BATF	chr22:20682993-20683344	GM12878	blood:	n/a	n/a
6	BATF	chr22:20638742-20638956	GM12878	blood:	n/a	n/a
7	BATF	chr22:20691434-20691787	GM12878	blood:	n/a	n/a
8	BATF	chr22:20636132-20636339	GM12878	blood:	n/a	n/a
9	BATF	chr22:20682994-20683256	GM12878	blood:	n/a	n/a
10	BATF	chr22:20639668-20640284	GM12878	blood:	n/a	n/a
11	BATF	chr22:20643770-20644104	GM12878	blood:	n/a	chr22:20644015-20644026 chr22:20644016-20644026
12	BATF	chr22:20648532-20648833	GM12878	blood:	n/a	n/a
13	BATF	chr22:20656807-20657022	GM12878	blood:	n/a	n/a
14	BATF	chr22:20639219-20639426	GM12878	blood:	n/a	n/a
15	BATF	chr22:20616411-20616668	GM12878	blood:	n/a	n/a
16	BATF	chr22:20691456-20691792	GM12878	blood:	n/a	n/a
17	BATF	chr22:20654184-20654475	GM12878	blood:	n/a	n/a
18	BATF	chr22:20626983-20627230	GM12878	blood:	n/a	n/a
19	BATF	chr22:20622314-20622678	GM12878	blood:	n/a	n/a
20	BATF	chr22:20689355-20689818	GM12878	blood:	n/a	n/a
21	BATF	chr22:20692280-20692501	GM12878	blood:	n/a	n/a
22	BATF	chr22:20689083-20689339	GM12878	blood:	n/a	n/a
23	BATF	chr22:20656731-20656911	GM12878	blood:	n/a	n/a
24	BATF	chr22:20653748-20653932	GM12878	blood:	n/a	n/a
25	BATF	chr22:20632604-20632963	GM12878	blood:	n/a	n/a
26	BATF	chr22:20642857-20643076	GM12878	blood:	n/a	n/a
27	BATF	chr22:20630770-20630976	GM12878	blood:	n/a	n/a
28	BATF	chr22:20645172-20645444	GM12878	blood:	n/a	n/a
29	BATF	chr22:20645707-20646003	GM12878	blood:	n/a	n/a
30	BATF	chr22:20643880-20644141	GM12878	blood:	n/a	chr22:20644015-20644026 chr22:20644016-20644026
31	BATF	chr22:20638703-20639091	GM12878	blood:	n/a	n/a
32	BATF	chr22:20647979-20648465	GM12878	blood:	n/a	n/a
33	BATF	chr22:20689408-20689810	GM12878	blood:	n/a	n/a
34	BATF	chr22:20692282-20692504	GM12878	blood:	n/a	n/a
35	BATF	chr22:20636170-20636366	GM12878	blood:	n/a	n/a
36	BATF	chr22:20638331-20638633	GM12878	blood:	n/a	n/a
37	BATF	chr22:20644442-20644764	GM12878	blood:	n/a	n/a
38	BATF	chr22:20637411-20637643	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:20692273-20692522	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:20691438-20691725	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:20460690-20460996	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:20688942-20689127	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:20643142-20643318	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:20645682-20645915	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:20638505-20639495	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:20654847-20655187	GM12878	blood:	n/a	chr22:20654981-20654990
47	BCL11A	chr22:20631560-20631811	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:20692284-20692480	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:20643986-20644238	GM12878	blood:	n/a	chr22:20644018-20644027 chr22:20644019-20644028
50	BCL11A	chr22:20652588-20652817	GM12878	blood:	n/a	n/a

(count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20640332-20640382	GM06990	blood:	n/a
2	chr22:20460068-20460118	ovcar-3	ovarian:	n/a
3	chr22:20504411-20504461	NHDF-neo	bronchial:	n/a
4	chr22:20456706-20456756	AG09309	skin:	n/a
5	chr22:20640332-20640382	GM06990	blood:	n/a
6	chr22:20460068-20460118	ovcar-3	ovarian:	n/a
7	chr22:20504411-20504461	NHDF-neo	bronchial:	n/a
8	chr22:20456706-20456756	AG09309	skin:	n/a
9	chr22:20502597-20502647	HRCEpiC	kidney:	n/a
10	chr22:20464947-20464997	ovcar-3	ovarian:	n/a
11	chr22:20504411-20504461	SK-N-SH_RA	brain:	n/a
12	chr22:20457884-20457934	NHBE	bronchial:	n/a
13	chr22:20484804-20484854	NH-A	brain:	n/a
14	chr22:20457884-20457934	NT2-D1	testis:	n/a
15	chr22:20464947-20464997	AG09309	skin:	n/a
16	chr22:20460068-20460118	HUVEC	blood vessel:	n/a
17	chr22:20457884-20457934	MCF-7	breast:	n/a
18	chr22:20502597-20502647	SK-N-SH_RA	brain:	n/a
19	chr22:20640332-20640382	HCM	heart:	n/a
20	chr22:20484804-20484854	HCM	heart:	n/a
21	chr22:20670922-20670972	HIPEpiC	eye:	n/a
22	chr22:20504411-20504461	GM06990	blood:	n/a
23	chr22:20464947-20464997	HL-60	blood:	n/a
24	chr22:20485872-20485922	PrEC	prostate:	n/a
25	chr22:20483668-20483718	SKMC	muscle:	n/a
26	chr22:20456706-20456756	HUVEC	blood vessel:	n/a
27	chr22:20464947-20464997	Hepatocyte	liver:	n/a
28	chr22:20483668-20483718	SK-N-SH_RA	brain:	n/a
29	chr22:20462514-20462564	CMK	blood:	n/a
30	chr22:20504411-20504461	HEEpiC	esophagus:	n/a
31	chr22:20641735-20641785	GM12892	blood:	n/a
32	chr22:20481341-20481391	Jurkat	blood:	n/a
33	chr22:20481341-20481391	SK-N-SH	brain:	n/a
34	chr22:20481341-20481391	HPAEpiC	pulmonary alveolar:	n/a
35	chr22:20460068-20460118	BE2_C	brain:	n/a
36	chr22:20641735-20641785	Caco-2	colon:	n/a
37	chr22:20484804-20484854	H1-hESC	embryonic stem cell:	embryo
38	chr22:20640123-20640173	HCPEpiC	choroid plexus:	n/a
39	chr22:20639089-20639139	SK-N-SH_RA	brain:	n/a
40	chr22:20640332-20640382	HRCEpiC	kidney:	n/a
41	chr22:20639089-20639139	BE2_C	brain:	n/a
42	chr22:20483668-20483718	RPTEC	kidney:	n/a
43	chr22:20641735-20641785	GM19239	blood:	n/a
44	chr22:20640332-20640382	AG09309	skin:	n/a
45	chr22:20457884-20457934	SAEC	small airway:	n/a
46	chr22:20484804-20484854	T-47D	breast:	n/a
47	chr22:20484804-20484854	HCF	heart:	n/a
48	chr22:20456706-20456756	GM12878	blood:	n/a
49	chr22:20640332-20640382	NHBE	bronchial:	n/a
50	chr22:20641735-20641785	AG09319	gingival:	n/a

No data

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
2	lnc-USP41-1	chr22:20632132-20632559	ENSG00000223579
3	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
4	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
5	lnc-USP41-1	chr22:20661121-20661407	ENSG00000223579
6	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
7	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
8	lnc-ZNF74-2	chr22:20645733-20645991	ENSG00000227005
9	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
10	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
11	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
12	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
13	lnc-USP41-1	chr22:20656688-20656828	ENSG00000223579
14	lnc-USP41-1	chr22:20640889-20641015	ENSG00000223579
15	lnc-USP41-1	chr22:20650758-20650844	ENSG00000223579
16	lnc-USP41-1	chr22:20653789-20653813	ENSG00000223579
17	lnc-ZNF74-2	chr22:20644408-20644523	ENSG00000227005
18	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
19	lnc-USP41-1	chr22:20656688-20656782	ENSG00000223579
20	lnc-USP41-1	chr22:20637203-20638159	ENSG00000223579
21	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579
22	lnc-USP41-1	chr22:20645786-20645851	ENSG00000223579
23	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
24	lnc-USP41-1	chr22:20643225-20643258	ENSG00000223579
25	lnc-USP41-1	chr22:20660211-20660269	ENSG00000223579
26	lnc-USP41-1	chr22:20640968-20641015	ENSG00000223579
27	lnc-RIMBP3-1	chr22:20455669-20455969	NONHSAT083514
28	lnc-USP41-1	chr22:20643724-20643785	ENSG00000223579
29	lnc-USP41-1	chr22:20654282-20654340	ENSG00000223579

No data

Variant related genes	Relation type
CA15P2	TF binding region
ENSG00000252024	TF binding region
ENSG00000236984	TF binding region
RIMBP3	TF binding region
ENSG00000223579	TF binding region
PPP1R26P2	TF binding region
ENSG00000216522	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
ENSG00000252024	CpG island
ENSG00000236984	CpG island
RIMBP3	CpG island
ENSG00000223579	CpG island
PPP1R26P2	CpG island
ENSG00000216522	CpG island
ENSG00000252571	CpG island
PPP1R26P3	CpG island
FAM230A	CpG island
ENSG00000227005	CpG island
RN7SKP131	CpG island

Extended variants
information (count: 1029 )
Associated
traits (count: 241 )

Variant overlapped rSNPs/rCNVs (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62219201	chr22:20452273-20452274	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs566121752	chr22:20452865-20452866	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs562584592	chr22:20452873-20452874	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs5994337	chr22:20454620-20454621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145617183	chr22:20454872-20454873	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs861804	chr22:20455089-20455090	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs567965932	chr22:20455204-20455205	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs527936679	chr22:20455218-20455219	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs201488057	chr22:20455232-20455233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs469343	chr22:20455713-20455714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9618837	chr22:20456082-20456083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112611023	chr22:20456090-20456091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112261404	chr22:20456444-20456445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112777751	chr22:20456445-20456446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs5997742	chr22:20456498-20456499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547699809	chr22:20456634-20456635	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9618840	chr22:20456696-20456697	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370193134	chr22:20456706-20456707	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs374395444	chr22:20456765-20456766	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199627467	chr22:20456851-20456852	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539623704	chr22:20456920-20456921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200551182	chr22:20457060-20457061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550141271	chr22:20457062-20457063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570126722	chr22:20457076-20457077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374875339	chr22:20457150-20457151	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377495714	chr22:20457158-20457159	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9617896	chr22:20457170-20457171	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374985615	chr22:20457171-20457172	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534048922	chr22:20457189-20457190	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554084852	chr22:20457203-20457204	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs141165655	chr22:20457204-20457205	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs577242940	chr22:20457310-20457311	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9617898	chr22:20457348-20457349	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs468996	chr22:20457361-20457362	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199673858	chr22:20457383-20457384	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2242315	chr22:20457485-20457486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200584390	chr22:20457514-20457515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9618841	chr22:20457665-20457666	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201621720	chr22:20457691-20457692	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576041344	chr22:20457734-20457735	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541569155	chr22:20457784-20457785	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs561689669	chr22:20457789-20457790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199716798	chr22:20457793-20457794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527310654	chr22:20457803-20457804	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372487519	chr22:20457826-20457827	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374471115	chr22:20457828-20457829	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201506791	chr22:20457829-20457830	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547019113	chr22:20457835-20457836	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564425615	chr22:20457837-20457838	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs202034782	chr22:20457841-20457842	Enhancers Weak transcription	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20454600-20454800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:20456600-20459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:20457000-20457400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr22:20457000-20459400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:20457000-20459400	Weak transcription	Right Atrium	heart
6	chr22:20457400-20457800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:20457800-20458800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr22:20458000-20458200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:20458000-20458600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr22:20458000-20458600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:20458200-20461000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:20458400-20458600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr22:20458400-20458600	Enhancers	Dnd41	blood
14	chr22:20459400-20459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:20459400-20459600	Enhancers	Adipose Nuclei	Adipose
16	chr22:20459400-20459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:20459400-20459800	Enhancers	HMEC	breast
18	chr22:20459400-20459800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr22:20459600-20459800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr22:20459600-20459800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:20459600-20459800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:20459600-20459800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr22:20459600-20459800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:20459600-20460200	Enhancers	Colonic Mucosa	Colon
25	chr22:20459600-20460200	Active TSS	HepG2	liver
26	chr22:20459800-20460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:20459800-20460000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr22:20459800-20460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:20460000-20460200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:20460200-20460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:20460400-20460800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:20460800-20461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:20461000-20461200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:20461200-20462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:20462400-20462600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:20508000-20508600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:20656400-20657600	Weak transcription	HUVEC	blood vessel
38	chr22:20657000-20657800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr22:20657000-20658000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr22:20657000-20658000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr22:20657000-20658000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr22:20657200-20657400	Bivalent/Poised TSS	Right Atrium	heart
43	chr22:20657200-20657600	Weak transcription	Fetal Lung	lung
44	chr22:20657200-20657800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:20657200-20657800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:20657200-20657800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr22:20657200-20657800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:20657200-20658000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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