Variant report

Variant	nsv914471
Chromosome Location	chr22:22165557-22272737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1856)
CpG islands
(count:1285)
Chromatin interactive
region (count:157)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22214783-22215223	K562	blood:	n/a	chr22:22214936-22214952
2	ARID3A	chr22:22182554-22182576	K562	blood:	n/a	n/a
3	ARID3A	chr22:22170459-22171448	K562	blood:	n/a	n/a
4	ARID3A	chr22:22178529-22178856	K562	blood:	n/a	n/a
5	ARID3A	chr22:22218822-22220433	K562	blood:	n/a	chr22:22219223-22219239 chr22:22219844-22219860
6	ARID3A	chr22:22220674-22221357	K562	blood:	n/a	n/a
7	ARID3A	chr22:22191798-22192251	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22180006-22180826	K562	blood:	n/a	n/a
9	ARID3A	chr22:22222097-22222479	HepG2	liver:	n/a	n/a
10	ARID3A	chr22:22217054-22217443	K562	blood:	n/a	chr22:22217202-22217218
11	ARID3A	chr22:22211739-22212435	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:22256741-22256833	HepG2	liver:	n/a	n/a
13	ARID3A	chr22:22166588-22166892	K562	blood:	n/a	n/a
14	ARID3A	chr22:22212881-22213086	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:22221791-22222719	K562	blood:	n/a	n/a
16	ARID3A	chr22:22230897-22231640	K562	blood:	n/a	n/a
17	ATF1	chr22:22179955-22180205	K562	blood:	n/a	n/a
18	ATF1	chr22:22191528-22191815	K562	blood:	n/a	n/a
19	ATF1	chr22:22211913-22212018	K562	blood:	n/a	n/a
20	ATF1	chr22:22212702-22212943	K562	blood:	n/a	n/a
21	ATF1	chr22:22264747-22264931	K562	blood:	n/a	n/a
22	ATF1	chr22:22170948-22171706	K562	blood:	n/a	n/a
23	ATF1	chr22:22183622-22183684	K562	blood:	n/a	n/a
24	ATF2	chr22:22221953-22222625	GM12878	blood:	n/a	n/a
25	ATF2	chr22:22230879-22231431	GM12878	blood:	n/a	n/a
26	ATF2	chr22:22230967-22231434	GM12878	blood:	n/a	n/a
27	ATF2	chr22:22221928-22222747	GM12878	blood:	n/a	n/a
28	ATF3	chr22:22230690-22231102	K562	blood:	n/a	n/a
29	ATF3	chr22:22222026-22222264	HepG2	liver:	n/a	n/a
30	ATF3	chr22:22221953-22222233	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF3	chr22:22220937-22222709	K562	blood:	n/a	n/a
32	BACH1	chr22:22222001-22222293	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr22:22214637-22214645	K562	blood:	n/a	n/a
34	BACH1	chr22:22226665-22226777	K562	blood:	n/a	n/a
35	BATF	chr22:22219510-22219757	GM12878	blood:	n/a	n/a
36	BATF	chr22:22230961-22231342	GM12878	blood:	n/a	n/a
37	BATF	chr22:22219436-22219788	GM12878	blood:	n/a	n/a
38	BATF	chr22:22170841-22171249	GM12878	blood:	n/a	chr22:22171050-22171061
39	BATF	chr22:22222249-22222600	GM12878	blood:	n/a	n/a
40	BATF	chr22:22221965-22222642	GM12878	blood:	n/a	n/a
41	BATF	chr22:22230933-22231325	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:22221959-22222632	GM12878	blood:	n/a	chr22:22222321-22222334
43	BCL11A	chr22:22230995-22231395	GM12878	blood:	n/a	chr22:22231340-22231347
44	BCLAF1	chr22:22221978-22222672	GM12878	blood:	n/a	chr22:22222321-22222334
45	BCLAF1	chr22:22211595-22212145	GM12878	blood:	n/a	n/a
46	BCLAF1	chr22:22222006-22222741	GM12878	blood:	n/a	chr22:22222321-22222334
47	BHLHE40	chr22:22220190-22222725	K562	blood:	n/a	chr22:22221836-22221852 chr22:22221822-22221838 chr22:22222122-22222131
48	BHLHE40	chr22:22211758-22212263	HepG2	liver:	n/a	n/a
49	BHLHE40	chr22:22170952-22171823	K562	blood:	n/a	n/a
50	BHLHE40	chr22:22215150-22215164	K562	blood:	n/a	n/a

(count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22236176-22236226	AG04450	lung:	fetal
2	chr22:22221056-22221106	NHDF-neo	bronchial:	n/a
3	chr22:22225580-22225630	PFSK-1	brain:	n/a
4	chr22:22221878-22221928	GM06990	blood:	n/a
5	chr22:22236176-22236226	AG04450	lung:	fetal
6	chr22:22221056-22221106	NHDF-neo	bronchial:	n/a
7	chr22:22225580-22225630	PFSK-1	brain:	n/a
8	chr22:22221878-22221928	GM06990	blood:	n/a
9	chr22:22236176-22236226	HUVEC	blood vessel:	n/a
10	chr22:22222162-22222212	HEK293	kidney:	embryo
11	chr22:22222169-22222219	PrEC	prostate:	n/a
12	chr22:22222597-22222647	AG04450	lung:	fetal
13	chr22:22236176-22236226	NHDF-neo	bronchial:	n/a
14	chr22:22217249-22217299	HCM	heart:	n/a
15	chr22:22222162-22222212	HCT-116	colon:	n/a
16	chr22:22222597-22222647	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:22222050-22222100	HCT-116	colon:	n/a
18	chr22:22222040-22222090	HUVEC	blood vessel:	n/a
19	chr22:22222305-22222355	HepG2	liver:	n/a
20	chr22:22225580-22225630	GM12891	blood:	n/a
21	chr22:22222305-22222355	HEEpiC	esophagus:	n/a
22	chr22:22222048-22222098	HNPCEpiC	eye:	n/a
23	chr22:22222597-22222647	Hela-S3	cervix:	n/a
24	chr22:22221878-22221928	GM12878	blood:	n/a
25	chr22:22221599-22221649	HIPEpiC	eye:	n/a
26	chr22:22222162-22222212	SK-N-MC	brain:	n/a
27	chr22:22236465-22236515	T-47D	breast:	n/a
28	chr22:22222040-22222090	HCM	heart:	n/a
29	chr22:22197297-22197347	HRPEpiC	eye:	n/a
30	chr22:22222030-22222080	NH-A	brain:	n/a
31	chr22:22236465-22236515	HRE	kidney:	n/a
32	chr22:22221056-22221106	GM19239	blood:	n/a
33	chr22:22210635-22210685	A549	lung:	n/a
34	chr22:22236176-22236226	ovcar-3	ovarian:	n/a
35	chr22:22222028-22222078	AG10803	skin:	n/a
36	chr22:22221599-22221649	NB4	blood:	n/a
37	chr22:22236176-22236226	NHBE	bronchial:	n/a
38	chr22:22222323-22222373	ECC-1	luminal epithelium:	n/a
39	chr22:22220367-22220417	HEEpiC	esophagus:	n/a
40	chr22:22197297-22197347	HL-60	blood:	n/a
41	chr22:22222323-22222373	IMR90	lung:	fetal
42	chr22:22236465-22236515	NHDF-neo	bronchial:	n/a
43	chr22:22221878-22221928	SK-N-SH_RA	brain:	n/a
44	chr22:22217249-22217299	GM19239	blood:	n/a
45	chr22:22222048-22222098	PFSK-1	brain:	n/a
46	chr22:22222169-22222219	SK-N-MC	brain:	n/a
47	chr22:22222169-22222219	LNCaP	prostate:	n/a
48	chr22:22210635-22210685	SK-N-MC	brain:	n/a
49	chr22:22222597-22222647	GM12892	blood:	n/a
50	chr22:22236465-22236515	HEEpiC	esophagus:	n/a

(count:157 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:22081671..22084644-chr22:22182581..22185976,3	K562	blood:
2	chr22:22249658..22252905-chr22:22259951..22263562,4	K562	blood:
3	chr22:22137712..22139539-chr22:22228080..22230109,2	K562	blood:
4	chr22:22220823..22223520-chr22:22318773..22322069,3	K562	blood:
5	chr22:22254209..22256329-chr22:22258681..22261497,3	K562	blood:
6	chr22:22153675..22157233-chr22:22176291..22179467,3	K562	blood:
7	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
8	chr22:22146096..22148051-chr22:22257614..22260158,2	K562	blood:
9	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
10	chr22:22090286..22091894-chr22:22213594..22215383,2	K562	blood:
11	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
12	chr22:22249618..22251729-chr22:22257192..22258847,2	K562	blood:
13	chr22:22121708..22124390-chr22:22186109..22187874,2	K562	blood:
14	chr22:22178466..22181415-chr22:22220315..22222347,3	MCF-7	breast:
15	chr22:22151815..22154124-chr22:22193537..22196414,2	K562	blood:
16	chr22:22214454..22216771-chr22:22219531..22222744,4	MCF-7	breast:
17	chr22:22151929..22155942-chr22:22170786..22174182,4	K562	blood:
18	chr22:22180113..22182524-chr22:22292764..22294458,2	K562	blood:
19	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
20	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
21	chr22:22228689..22232377-chr22:22290701..22294300,4	K562	blood:
22	chr22:22215700..22218556-chr22:22295554..22298706,3	K562	blood:
23	chr22:22241135..22242732-chr22:22247285..22249362,2	K562	blood:
24	chr22:22253444..22256329-chr22:22257367..22260186,3	K562	blood:
25	chr22:22107491..22109673-chr22:22180297..22182742,2	K562	blood:
26	chr22:22067152..22067656-chr22:22271772..22272482,2	K562	blood:
27	chr22:22221122..22223071-chr22:22230330..22233153,2	MCF-7	breast:
28	chr22:22053860..22056327-chr22:22270499..22272537,2	K562	blood:
29	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
30	chr22:22255775..22257984-chr22:22276245..22278618,2	K562	blood:
31	chr22:22089342..22091390-chr22:22180328..22182254,2	K562	blood:
32	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:
33	chr22:22226621..22228509-chr22:22306665..22308324,2	K562	blood:
34	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:
35	chr22:22122532..22126168-chr22:22220788..22223701,4	K562	blood:
36	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
37	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
38	chr22:22221402..22223173-chr22:22398013..22400687,2	K562	blood:
39	chr22:22255129..22259166-chr22:22267129..22272472,7	K562	blood:
40	chr22:22177909..22178847-chr22:22292516..22293066,3	K562	blood:
41	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
42	chr22:22259830..22262116-chr22:22275142..22276644,2	K562	blood:
43	chr22:22219525..22222944-chr22:22304293..22307333,4	K562	blood:
44	chr22:22222543..22224623-chr22:22247258..22248880,2	K562	blood:
45	chr16:84538077..84538699-chr22:22222028..22222529,2	HCT-116	colon:
46	chr22:22124761..22127250-chr22:22218552..22220662,2	K562	blood:
47	chr22:22195671..22198608-chr22:22219400..22221487,2	MCF-7	breast:
48	chr22:22241378..22243809-chr22:22296342..22298388,2	K562	blood:
49	chr22:22146204..22148000-chr22:22223590..22225701,2	K562	blood:
50	chr22:22256382..22259284-chr22:22291547..22294130,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-6	chr22:22259443-22260193	NONHSAT083722
2	lnc-PPIL2-5	chr22:22185463-22185789	NONHSAT083721
3	lnc-PPIL2-5	chr22:22184681-22184830	NONHSAT083721

No data

Variant related genes	Relation type
MAPK1	TF binding region
ENSG00000225544	TF binding region
MAPK1	CpG island
ENSG00000225544	CpG island
ENSG00000161179	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000173276	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000140950	chromatin interactions
ENSG00000243147	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000089902	chromatin interactions

Extended variants
information (count: 4245 )
Associated
traits (count: 226 )

Variant overlapped rSNPs/rCNVs (count:4245 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8136902	chr22:22165557-22165558	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376589948	chr22:22165561-22165562	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559417189	chr22:22165572-22165573	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188205648	chr22:22165585-22165586	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556034778	chr22:22165601-22165602	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551345243	chr22:22165613-22165614	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192619182	chr22:22165650-22165651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570826556	chr22:22165660-22165661	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539838891	chr22:22165683-22165684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199966950	chr22:22165685-22165686	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550336105	chr22:22165686-22165687	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148372848	chr22:22165731-22165732	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61706233	chr22:22165742-22165743	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143345741	chr22:22165822-22165823	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572734305	chr22:22165825-22165826	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548067709	chr22:22165829-22165830	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572515549	chr22:22165861-22165862	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184873030	chr22:22165862-22165863	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558124213	chr22:22165906-22165907	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577268926	chr22:22165910-22165911	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541747762	chr22:22165918-22165919	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147456894	chr22:22165922-22165923	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373815888	chr22:22165933-22165934	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116358576	chr22:22165936-22165937	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532655963	chr22:22165973-22165974	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573380390	chr22:22165990-22165991	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111544626	chr22:22166004-22166005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543482160	chr22:22166009-22166010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559507957	chr22:22166012-22166013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528226230	chr22:22166014-22166015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551700510	chr22:22166015-22166016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145398298	chr22:22166057-22166058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559324045	chr22:22166058-22166059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533396164	chr22:22166064-22166065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs550175149	chr22:22166088-22166089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35096158	chr22:22166121-22166122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570036303	chr22:22166131-22166132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12167814	chr22:22166212-22166213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs5999653	chr22:22166226-22166227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190172919	chr22:22166234-22166235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115669107	chr22:22166274-22166275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566267915	chr22:22166294-22166295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548408578	chr22:22166358-22166359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558472853	chr22:22166380-22166381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181612471	chr22:22166449-22166450	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs8141851	chr22:22166450-22166451	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs556562599	chr22:22166454-22166455	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150646571	chr22:22166463-22166464	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375838773	chr22:22166509-22166510	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542709467	chr22:22166523-22166524	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:226)

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
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3542 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
4	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
5	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:22142800-22170600	Weak transcription	Colonic Mucosa	Colon
7	chr22:22145800-22170600	Weak transcription	Small Intestine	intestine
8	chr22:22160000-22167600	Weak transcription	Pancreas	Pancrea
9	chr22:22160000-22171600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:22160400-22171200	Weak transcription	Right Ventricle	heart
11	chr22:22160600-22171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:22160600-22172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:22160800-22171400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:22160800-22171400	Weak transcription	Gastric	stomach
15	chr22:22160800-22172400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:22161000-22169800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr22:22161000-22170400	Weak transcription	HMEC	breast
18	chr22:22161000-22171400	Weak transcription	Esophagus	oesophagus
19	chr22:22161200-22166200	Weak transcription	Fetal Brain Female	brain
20	chr22:22161200-22167800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:22161400-22169800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:22161400-22173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:22161600-22168000	Weak transcription	Lung	lung
24	chr22:22161600-22170000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr22:22161600-22170400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:22161600-22170400	Weak transcription	NHEK	skin
27	chr22:22161600-22182000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:22161800-22166400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:22161800-22169000	Weak transcription	Left Ventricle	heart
30	chr22:22161800-22169000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:22161800-22169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:22161800-22170400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:22161800-22170400	Weak transcription	HSMMtube	muscle
34	chr22:22161800-22170600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:22162000-22166200	Weak transcription	Brain Germinal Matrix	brain
36	chr22:22162000-22167200	Weak transcription	Fetal Intestine Large	intestine
37	chr22:22162000-22167400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr22:22162000-22167800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:22162000-22168200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:22162000-22169400	Weak transcription	Spleen	Spleen
41	chr22:22162000-22169600	Weak transcription	HUVEC	blood vessel
42	chr22:22162000-22169800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr22:22162000-22169800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:22162000-22170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:22162000-22170400	Weak transcription	Fetal Kidney	kidney
46	chr22:22162000-22170400	Weak transcription	HSMM	muscle
47	chr22:22162000-22170600	Weak transcription	Placenta	Placenta
48	chr22:22162000-22171400	Weak transcription	Liver	Liver
49	chr22:22162000-22171400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr22:22162000-22171400	Weak transcription	Ovary	ovary

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