Variant report

Variant	esv12578
Chromosome Location	chr22:21653692-21797733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2726)
CpG islands
(count:1038)
Chromatin interactive
region (count:2)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2726 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:21659286-21659493	GM12878	blood:	n/a	n/a
2	BATF	chr22:21679248-21679454	GM12878	blood:	n/a	n/a
3	BATF	chr22:21653924-21654130	GM12878	blood:	n/a	n/a
4	BATF	chr22:21665661-21665880	GM12878	blood:	n/a	n/a
5	BATF	chr22:21738444-21738711	GM12878	blood:	n/a	n/a
6	BATF	chr22:21661858-21662246	GM12878	blood:	n/a	n/a
7	BATF	chr22:21664502-21664702	GM12878	blood:	n/a	n/a
8	BATF	chr22:21671350-21671638	GM12878	blood:	n/a	n/a
9	BATF	chr22:21664688-21664901	GM12878	blood:	n/a	n/a
10	BATF	chr22:21661897-21662111	GM12878	blood:	n/a	n/a
11	BATF	chr22:21686882-21687165	GM12878	blood:	n/a	n/a
12	BATF	chr22:21670784-21671270	GM12878	blood:	n/a	n/a
13	BATF	chr22:21660566-21660798	GM12878	blood:	n/a	n/a
14	BATF	chr22:21680752-21681052	GM12878	blood:	n/a	n/a
15	BATF	chr22:21661486-21661800	GM12878	blood:	n/a	n/a
16	BATF	chr22:21680010-21680280	GM12878	blood:	n/a	n/a
17	BATF	chr22:21771592-21771785	GM12878	blood:	n/a	n/a
18	BATF	chr22:21668510-21668775	GM12878	blood:	n/a	n/a
19	BATF	chr22:21686970-21687232	GM12878	blood:	n/a	n/a
20	BATF	chr22:21754245-21754462	GM12878	blood:	n/a	n/a
21	BATF	chr22:21680010-21680279	GM12878	blood:	n/a	n/a
22	BATF	chr22:21691873-21692088	GM12878	blood:	n/a	n/a
23	BATF	chr22:21667217-21667566	GM12878	blood:	n/a	n/a
24	BATF	chr22:21666477-21666908	GM12878	blood:	n/a	chr22:21666820-21666830
25	BATF	chr22:21665627-21665835	GM12878	blood:	n/a	n/a
26	BATF	chr22:21667975-21668247	GM12878	blood:	n/a	n/a
27	BATF	chr22:21677006-21677202	GM12878	blood:	n/a	n/a
28	BATF	chr22:21680783-21681060	GM12878	blood:	n/a	n/a
29	BATF	chr22:21655763-21656117	GM12878	blood:	n/a	n/a
30	BATF	chr22:21662377-21662584	GM12878	blood:	n/a	n/a
31	BATF	chr22:21656504-21656819	GM12878	blood:	n/a	n/a
32	BATF	chr22:21659324-21659520	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:21668512-21668704	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:21738418-21738724	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:21679254-21679450	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:21680772-21681085	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:21670020-21670241	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:21654185-21654429	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:21671391-21671676	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:21670778-21671366	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:21660283-21660476	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:21655793-21655980	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:21674427-21674617	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:21662762-21663166	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:21680018-21680203	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:21660824-21661114	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:21675029-21675236	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:21660257-21660673	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:21654739-21654965	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:21675400-21675620	GM12878	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21774669-21774719	Jurkat	blood:	n/a
2	chr22:21774669-21774719	Jurkat	blood:	n/a
3	chr22:21771551-21771601	NT2-D1	testis:	n/a
4	chr22:21771551-21771601	HMEC	breast:	n/a
5	chr22:21772272-21772322	H1-hESC	embryonic stem cell:	embryo
6	chr22:21772272-21772322	NH-A	brain:	n/a
7	chr22:21660828-21660878	Hepatocyte	liver:	n/a
8	chr22:21664376-21664426	HCPEpiC	choroid plexus:	n/a
9	chr22:21692413-21692463	HIPEpiC	eye:	n/a
10	chr22:21715770-21715820	SK-N-MC	brain:	n/a
11	chr22:21772272-21772322	HAEpiC	amniotic membrane:	n/a
12	chr22:21660828-21660878	ProgFib	skin:	n/a
13	chr22:21770855-21770905	GM19239	blood:	n/a
14	chr22:21772272-21772322	HMEC	breast:	n/a
15	chr22:21714908-21714958	SKMC	muscle:	n/a
16	chr22:21773494-21773544	HCPEpiC	choroid plexus:	n/a
17	chr22:21710822-21710872	T-47D	breast:	n/a
18	chr22:21774669-21774719	HUVEC	blood vessel:	n/a
19	chr22:21692413-21692463	AG04450	lung:	fetal
20	chr22:21714051-21714101	SK-N-MC	brain:	n/a
21	chr22:21660828-21660878	U87	brain:	n/a
22	chr22:21714051-21714101	HCT-116	colon:	n/a
23	chr22:21771551-21771601	HAEpiC	amniotic membrane:	n/a
24	chr22:21718166-21718216	GM12878	blood:	n/a
25	chr22:21718166-21718216	HCPEpiC	choroid plexus:	n/a
26	chr22:21695329-21695379	AG09319	gingival:	n/a
27	chr22:21692413-21692463	LNCaP	prostate:	n/a
28	chr22:21698406-21698456	SK-N-SH_RA	brain:	n/a
29	chr22:21735028-21735078	BE2_C	brain:	n/a
30	chr22:21660828-21660878	SK-N-MC	brain:	n/a
31	chr22:21710822-21710872	HIPEpiC	eye:	n/a
32	chr22:21772272-21772322	HCPEpiC	choroid plexus:	n/a
33	chr22:21710822-21710872	GM06990	blood:	n/a
34	chr22:21692413-21692463	H1-hESC	embryonic stem cell:	embryo
35	chr22:21695329-21695379	AG09309	skin:	n/a
36	chr22:21698406-21698456	RPTEC	kidney:	n/a
37	chr22:21698406-21698456	AG09319	gingival:	n/a
38	chr22:21735028-21735078	NB4	blood:	n/a
39	chr22:21664376-21664426	HepG2	liver:	n/a
40	chr22:21773494-21773544	GM19239	blood:	n/a
41	chr22:21715770-21715820	AG09319	gingival:	n/a
42	chr22:21695329-21695379	HCF	heart:	n/a
43	chr22:21718166-21718216	HEEpiC	esophagus:	n/a
44	chr22:21714908-21714958	T-47D	breast:	n/a
45	chr22:21695329-21695379	SK-N-SH	brain:	n/a
46	chr22:21735028-21735078	AG04450	lung:	fetal
47	chr22:21695329-21695379	H1-hESC	embryonic stem cell:	embryo
48	chr22:21714908-21714958	MCF-7	breast:	n/a
49	chr22:21770855-21770905	HEK293	kidney:	embryo
50	chr22:21773494-21773544	HRPEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
2	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3B-2	chr22:21725711-21725760	l_2251_chr22:21725710-21727925_testes
2	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
3	lnc-GGT2-2	chr22:21655286-21655713	NONHSAT083653
4	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
5	lnc-GGT2-2	chr22:21676237-21676616	ENSG00000206142
6	lnc-GGT2-2	chr22:21660358-21661314	NONHSAT083653
7	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
8	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
9	lnc-AP000552.1-1	chr22:21668536-21669193	ENSG00000237407
10	lnc-GGT2-2	chr22:21677152-21677166	ENSG00000206142
11	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
12	lnc-GGT2-2	chr22:21677085-21677273	ENSG00000206142
13	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
14	lnc-GGT2-2	chr22:21679120-21679226	ENSG00000206142
15	lnc-AP000552.1-1	chr22:21667209-21667325	ENSG00000237407
16	lnc-GGT2-2	chr22:21677085-21677224	ENSG00000206142
17	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
18	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
19	lnc-GGT2-2	chr22:21676484-21676616	ENSG00000206142
20	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
21	lnc-RIMBP3B-1	chr22:21743480-21743780	NONHSAT083665
22	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
23	lnc-GGT2-2	chr22:21673559-21673645	NONHSAT083653
24	lnc-GGT2-2	chr22:21677085-21677147	ENSG00000206142
25	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
26	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
27	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
28	lnc-GGT2-2	chr22:21668589-21668654	NONHSAT083653
29	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
30	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
31	lnc-GGT2-2	chr22:21666528-21666589	NONHSAT083653
32	lnc-RIMBP3B-2	chr22:21726368-21726939	l_2251_chr22:21725710-21727925_testes
33	lnc-GGT2-2	chr22:21666029-21666062	NONHSAT083653
34	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
35	lnc-GGT2-2	chr22:21675881-21676008	ENSG00000206142
36	lnc-RIMBP3B-2	chr22:21727743-21727925	l_2251_chr22:21725710-21727925_testes
37	lnc-GGT2-2	chr22:21660358-21661314	ENSG00000206142
38	lnc-GGT2-2	chr22:21676592-21676616	NONHSAT083653
39	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
40	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
41	lnc-GGT2-2	chr22:21677085-21677166	NONHSAT083653
42	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
43	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
44	lnc-GGT2-2	chr22:21676430-21676616	ENSG00000206142
45	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
46	lnc-GGT2-2	chr22:21655286-21655713	ENSG00000206142
47	lnc-GGT2-2	chr22:21679120-21679331	ENSG00000206142

No data

Variant related genes	Relation type
ENSG00000252020	TF binding region
ENSG00000226534	TF binding region
RN7SKP63	TF binding region
ENSG00000252402	TF binding region
BCRP6	TF binding region
ENSG00000237407	TF binding region
PPP1R26P5	TF binding region
ENSG00000252314	TF binding region
RIMBP3B	TF binding region
HIC2	TF binding region
FAM230C	TF binding region
ENSG00000252020	CpG island
ENSG00000226534	CpG island
RN7SKP63	CpG island
ENSG00000252402	CpG island
BCRP6	CpG island
ENSG00000237407	CpG island
PPP1R26P5	CpG island
ENSG00000252314	CpG island
RIMBP3B	CpG island
HIC2	CpG island
FAM230C	CpG island

Extended variants
information (count: 813 )
Associated
traits (count: 224 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145072845	chr22:21653730-21653731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375384192	chr22:21653833-21653834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113273308	chr22:21653853-21653854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181280643	chr22:21655514-21655515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs62234746	chr22:21655619-21655620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs9606770	chr22:21660440-21660441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs534078446	chr22:21660569-21660570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs470342	chr22:21660573-21660574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs9621078	chr22:21660580-21660581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs9606771	chr22:21660587-21660588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9609066	chr22:21660701-21660702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs9609067	chr22:21660807-21660808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs554333566	chr22:21660828-21660829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs577325004	chr22:21660835-21660836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs546379472	chr22:21660838-21660839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs9609068	chr22:21661068-21661069	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs9621080	chr22:21661128-21661129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs542837	chr22:21662211-21662212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9609071	chr22:21662571-21662572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7289101	chr22:21662663-21662664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9609075	chr22:21662686-21662687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186705931	chr22:21662747-21662748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9621088	chr22:21662748-21662749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs9619135	chr22:21662885-21662886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373164349	chr22:21662991-21662992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377698983	chr22:21662997-21662998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370002653	chr22:21663023-21663024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9680800	chr22:21663116-21663117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs9680767	chr22:21663131-21663132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374575055	chr22:21663158-21663159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377368605	chr22:21663206-21663207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370320919	chr22:21663260-21663261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374730536	chr22:21663288-21663289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376512932	chr22:21663315-21663316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs371004112	chr22:21663342-21663343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs17857193	chr22:21663343-21663344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs17857192	chr22:21663348-21663349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561715190	chr22:21663368-21663369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374327074	chr22:21663369-21663370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201508032	chr22:21663374-21663375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs17857196	chr22:21663375-21663376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs17857195	chr22:21663387-21663388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs17857194	chr22:21663391-21663392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs199650322	chr22:21663401-21663402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9680777	chr22:21663404-21663405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372169787	chr22:21663422-21663423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374607482	chr22:21663423-21663424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs367675106	chr22:21663429-21663430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571462888	chr22:21663455-21663456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs17855634	chr22:21663457-21663458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:224)

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
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
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
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21714800-21715000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr22:21718200-21718400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr22:21722400-21724800	Weak transcription	Right Atrium	heart
4	chr22:21756400-21756600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:21756400-21757200	Enhancers	K562	blood
6	chr22:21756400-21757400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:21756400-21757400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr22:21756400-21757600	Active TSS	HepG2	liver
9	chr22:21757200-21757400	Flanking Active TSS	K562	blood
10	chr22:21757400-21757800	Enhancers	K562	blood
11	chr22:21757600-21757800	Flanking Active TSS	HepG2	liver
12	chr22:21757600-21758000	Enhancers	Fetal Intestine Large	intestine
13	chr22:21770400-21770600	Enhancers	K562	blood
14	chr22:21770600-21770800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr22:21770600-21771000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr22:21770600-21771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:21770600-21771000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr22:21770600-21771000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:21770600-21771000	Active TSS	HepG2	liver
20	chr22:21770600-21771000	Flanking Active TSS	K562	blood
21	chr22:21770600-21772400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr22:21770800-21771000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:21770800-21771000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr22:21770800-21771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:21770800-21771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:21770800-21771000	Enhancers	Adipose Nuclei	Adipose
27	chr22:21770800-21771000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr22:21770800-21772200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr22:21771000-21771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:21771000-21772000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:21771000-21772000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr22:21771000-21772000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:21771000-21772000	Weak transcription	K562	blood
34	chr22:21771000-21772000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr22:21771000-21772200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:21771000-21773200	Weak transcription	HepG2	liver
37	chr22:21771600-21772000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr22:21771600-21772200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:21771600-21772200	Active TSS	Gastric	stomach
40	chr22:21771600-21772400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:21771600-21772400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:21771600-21772400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:21771600-21772400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr22:21771600-21772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:21771600-21772400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr22:21771600-21772400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:21771600-21772400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:21771600-21772400	Active TSS	Aorta	Aorta
49	chr22:21771600-21772400	Active TSS	Esophagus	oesophagus
50	chr22:21771600-21772400	Active TSS	Pancreatic Islets	Pancreatic Islet

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