Variant report

Variant	esv3423141
Chromosome Location	chr22:22074283-22135439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1680)
CpG islands
(count:977)
Chromatin interactive
region (count:163)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1680 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22108775-22110663	K562	blood:	n/a	n/a
2	ARID3A	chr22:22089256-22089896	K562	blood:	n/a	n/a
3	ARID3A	chr22:22090153-22090405	K562	blood:	n/a	n/a
4	ARID3A	chr22:22133311-22133943	K562	blood:	n/a	n/a
5	ATF1	chr22:22108776-22109714	K562	blood:	n/a	n/a
6	ATF1	chr22:22114936-22115664	K562	blood:	n/a	n/a
7	ATF1	chr22:22133275-22133607	K562	blood:	n/a	n/a
8	ATF1	chr22:22110058-22110480	K562	blood:	n/a	n/a
9	ATF2	chr22:22116954-22117845	GM12878	blood:	n/a	n/a
10	ATF2	chr22:22110091-22110785	GM12878	blood:	n/a	n/a
11	ATF2	chr22:22121195-22121792	GM12878	blood:	n/a	n/a
12	ATF2	chr22:22110187-22110755	GM12878	blood:	n/a	n/a
13	ATF2	chr22:22090399-22090648	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr22:22116919-22117833	GM12878	blood:	n/a	n/a
15	ATF3	chr22:22085156-22085628	K562	blood:	n/a	n/a
16	ATF3	chr22:22085283-22085638	K562	blood:	n/a	n/a
17	ATF3	chr22:22092339-22092812	K562	blood:	n/a	n/a
18	ATF3	chr22:22089508-22090939	K562	blood:	n/a	chr22:22090324-22090333
19	BACH1	chr22:22108719-22110743	K562	blood:	n/a	n/a
20	BACH1	chr22:22117207-22117385	K562	blood:	n/a	n/a
21	BACH1	chr22:22089779-22090921	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr22:22090700-22090772	K562	blood:	n/a	n/a
23	BACH1	chr22:22129568-22129648	K562	blood:	n/a	n/a
24	BATF	chr22:22115385-22115773	GM12878	blood:	n/a	n/a
25	BATF	chr22:22121092-22121749	GM12878	blood:	n/a	chr22:22121176-22121185
26	BATF	chr22:22116960-22117351	GM12878	blood:	n/a	n/a
27	BATF	chr22:22110099-22110612	GM12878	blood:	n/a	n/a
28	BATF	chr22:22115408-22115706	GM12878	blood:	n/a	n/a
29	BATF	chr22:22121104-22121721	GM12878	blood:	n/a	chr22:22121176-22121185
30	BATF	chr22:22110081-22110614	GM12878	blood:	n/a	n/a
31	BATF	chr22:22116966-22117399	GM12878	blood:	n/a	n/a
32	BCL11A	chr22:22110197-22110544	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:22117034-22117333	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:22116949-22117351	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:22121344-22121720	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:22110233-22110538	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:22121342-22121774	GM12878	blood:	n/a	n/a
38	BCL3	chr22:22110056-22110685	GM12878	blood:	n/a	n/a
39	BCL3	chr22:22130435-22131880	K562	blood:	n/a	chr22:22131492-22131501
40	BCL3	chr22:22110185-22110602	GM12878	blood:	n/a	n/a
41	BCL3	chr22:22108533-22114154	K562	blood:	n/a	n/a
42	BCLAF1	chr22:22109931-22110974	GM12878	blood:	n/a	n/a
43	BCLAF1	chr22:22116953-22117875	GM12878	blood:	n/a	n/a
44	BCLAF1	chr22:22089050-22090609	K562	blood:	n/a	n/a
45	BCLAF1	chr22:22089690-22090197	GM12878	blood:	n/a	n/a
46	BHLHE40	chr22:22089524-22090574	GM12878	blood:	n/a	chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891
47	BHLHE40	chr22:22092414-22092739	K562	blood:	n/a	n/a
48	BHLHE40	chr22:22115564-22115591	K562	blood:	n/a	n/a
49	BHLHE40	chr22:22080921-22081298	K562	blood:	n/a	n/a
50	BHLHE40	chr22:22089816-22090512	HepG2	liver:	n/a	chr22:22089867-22089883 chr22:22089875-22089891

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22090486-22090536	HIPEpiC	eye:	n/a
2	chr22:22090486-22090536	HIPEpiC	eye:	n/a
3	chr22:22090486-22090536	PFSK-1	brain:	n/a
4	chr22:22089752-22089802	PrEC	prostate:	n/a
5	chr22:22089752-22089802	HRCEpiC	kidney:	n/a
6	chr22:22090066-22090116	PrEC	prostate:	n/a
7	chr22:22090486-22090536	SK-N-MC	brain:	n/a
8	chr22:22090126-22090176	SAEC	small airway:	n/a
9	chr22:22118304-22118354	NHBE	bronchial:	n/a
10	chr22:22090804-22090854	NHDF-neo	bronchial:	n/a
11	chr22:22089368-22089418	Caco-2	colon:	n/a
12	chr22:22089827-22089877	IMR90	lung:	fetal
13	chr22:22090804-22090854	GM12878	blood:	n/a
14	chr22:22089368-22089418	AG09309	skin:	n/a
15	chr22:22090486-22090536	LNCaP	prostate:	n/a
16	chr22:22089368-22089418	HNPCEpiC	eye:	n/a
17	chr22:22118304-22118354	AG10803	skin:	n/a
18	chr22:22086335-22086385	PFSK-1	brain:	n/a
19	chr22:22090129-22090179	AoSMC	blood vessel:	n/a
20	chr22:22089827-22089877	HRPEpiC	eye:	n/a
21	chr22:22089368-22089418	PrEC	prostate:	n/a
22	chr22:22089368-22089418	H1-hESC	embryonic stem cell:	embryo
23	chr22:22089417-22089467	SK-N-MC	brain:	n/a
24	chr22:22086335-22086385	SKMC	muscle:	n/a
25	chr22:22090126-22090176	HMEC	breast:	n/a
26	chr22:22090486-22090536	Jurkat	blood:	n/a
27	chr22:22089368-22089418	SKMC	muscle:	n/a
28	chr22:22093983-22094033	HRCEpiC	kidney:	n/a
29	chr22:22090796-22090846	AG04449	skin:	fetal
30	chr22:22118304-22118354	GM12878	blood:	n/a
31	chr22:22090124-22090174	GM12878	blood:	n/a
32	chr22:22086335-22086385	HCPEpiC	choroid plexus:	n/a
33	chr22:22090124-22090174	HCT-116	colon:	n/a
34	chr22:22086335-22086385	HEEpiC	esophagus:	n/a
35	chr22:22090066-22090116	HIPEpiC	eye:	n/a
36	chr22:22090796-22090846	GM12878	blood:	n/a
37	chr22:22089827-22089877	NT2-D1	testis:	n/a
38	chr22:22090066-22090116	GM19239	blood:	n/a
39	chr22:22090804-22090854	CMK	blood:	n/a
40	chr22:22093983-22094033	NHBE	bronchial:	n/a
41	chr22:22090132-22090182	Jurkat	blood:	n/a
42	chr22:22090804-22090854	U87	brain:	n/a
43	chr22:22089368-22089418	HMEC	breast:	n/a
44	chr22:22089827-22089877	HMEC	breast:	n/a
45	chr22:22090486-22090536	BJ	skin:	n/a
46	chr22:22089752-22089802	HAEpiC	amniotic membrane:	n/a
47	chr22:22090796-22090846	SK-N-SH_RA	brain:	n/a
48	chr22:22090129-22090179	HCF	heart:	n/a
49	chr22:22090129-22090179	ECC-1	luminal epithelium:	n/a
50	chr22:22090124-22090174	K562	blood:	n/a

(count:163 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
2	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
3	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
4	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
5	chr22:22106546..22109125-chr22:22213093..22217007,3	K562	blood:
6	chr22:22094397..22096556-chr22:22202913..22204728,2	K562	blood:
7	chr22:22092924..22094778-chr22:22097040..22099183,2	MCF-7	breast:
8	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:
9	chr22:22120197..22121193-chr22:22292258..22293064,2	K562	blood:
10	chr22:22093571..22096168-chr22:22117600..22119106,2	MCF-7	breast:
11	chr22:22130567..22133549-chr22:22209125..22210877,2	K562	blood:
12	chr22:22128885..22129564-chr22:22292386..22293174,2	MCF-7	breast:
13	chr22:22067102..22068170-chr22:22080299..22081635,13	K562	blood:
14	chr22:22072410..22075324-chr22:22075644..22077666,2	MCF-7	breast:
15	chr22:22115887..22117741-chr22:22205712..22207853,2	K562	blood:
16	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
17	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
18	chr22:22085813..22088174-chr22:22279983..22282803,2	K562	blood:
19	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
20	chr22:22088507..22090590-chr22:22096138..22098741,2	MCF-7	breast:
21	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
22	chr22:21995824..21997937-chr22:22089395..22092110,2	MCF-7	breast:
23	chr22:22107700..22110660-chr22:22291267..22295337,4	K562	blood:
24	chr22:21981226..21984550-chr22:22079610..22083014,3	MCF-7	breast:
25	chr22:22108696..22110374-chr22:22279549..22281970,2	K562	blood:
26	chr22:22071696..22075407-chr22:22082382..22085993,5	K562	blood:
27	chr22:22129393..22130914-chr22:22299587..22301892,2	K562	blood:
28	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
29	chr22:22093571..22096168-chr22:22117600..22119106,2	MCF-7	breast:
30	chr22:22095626..22098293-chr4:146105951..146107730,2	MCF-7	breast:
31	chr22:22134933..22136529-chr22:22139947..22142320,2	K562	blood:
32	chr22:22062493..22064208-chr22:22081011..22082860,2	K562	blood:
33	chr22:22067152..22067817-chr22:22080630..22081487,3	MCF-7	breast:
34	chr22:22084430..22086760-chr22:22307318..22308898,2	K562	blood:
35	chr22:22091591..22094874-chr22:22098707..22104176,4	MCF-7	breast:
36	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:
37	chr22:22084176..22086091-chr22:22097609..22100060,2	K562	blood:
38	chr22:22116046..22118494-chr22:22321132..22322757,2	K562	blood:
39	chr22:22072101..22074972-chr22:22077643..22079155,2	K562	blood:
40	chr22:22119642..22122030-chr22:22221200..22223104,2	K562	blood:
41	chr22:22106802..22107652-chr22:22117095..22117849,2	K562	blood:
42	chr22:22056257..22058152-chr22:22092441..22095055,2	K562	blood:
43	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
44	chr22:22092924..22094778-chr22:22097040..22099183,2	MCF-7	breast:
45	chr22:22100635..22103684-chr22:22106701..22109706,3	MCF-7	breast:
46	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
47	chr22:22126755..22128874-chr22:22292679..22294452,2	K562	blood:
48	chr22:22072219..22074505-chr22:22292301..22294547,2	K562	blood:
49	chr22:22073793..22075931-chr22:22253335..22255670,2	K562	blood:
50	chr22:22124761..22127250-chr22:22218552..22220662,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-4	chr22:22106747-22106918	NONHSAT083718
2	lnc-PPIL2-4	chr22:22106358-22106522	NONHSAT083718
3	lnc-PPIL2-4	chr22:22106747-22106917	NONHSAT083717
4	lnc-PPIL2-4	chr22:22107011-22107258	NONHSAT083717
5	lnc-MAPK1-1	chr22:22077172-22077471	NONHSAT083715
6	lnc-PPIL2-4	chr22:22105751-22106248	NONHSAT083717

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAPK1	hsa-miR-320a	chr22:22122105-22122099
2	MAPK1	hsa-miR-320a	chr22:22117145-22117172
3	MAPK1	hsa-miR-28-5p	chr22:22123375-22123396

Variant related genes	Relation type
YPEL1	TF binding region
RN7SL280P	TF binding region
MAPK1	TF binding region
YPEL1	CpG island
RN7SL280P	CpG island
MAPK1	CpG island
ENSG00000008324	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000244671	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000100030	chromatin interactions

Extended variants
information (count: 2610 )
Associated
traits (count: 223 )

Variant overlapped rSNPs/rCNVs (count:2610 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112623506	chr22:22074301-22074302	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113018527	chr22:22074344-22074345	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs146964445	chr22:22074375-22074376	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs5999180	chr22:22074393-22074394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376248119	chr22:22074418-22074419	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs13058644	chr22:22074440-22074441	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112994310	chr22:22074453-22074454	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs13058534	chr22:22074465-22074466	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs548335203	chr22:22074466-22074467	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538121581	chr22:22074529-22074530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542460769	chr22:22074539-22074540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562228427	chr22:22074540-22074541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183115613	chr22:22074553-22074554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548096214	chr22:22074601-22074602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564619421	chr22:22074650-22074651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569853724	chr22:22074660-22074661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532986113	chr22:22074679-22074680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143369999	chr22:22074687-22074688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369346301	chr22:22074713-22074714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535150732	chr22:22074714-22074715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113451344	chr22:22074724-22074725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565903891	chr22:22074735-22074736	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372317168	chr22:22074736-22074737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558081791	chr22:22074791-22074792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375558866	chr22:22074823-22074824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539842488	chr22:22074968-22074969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192486200	chr22:22074999-22075000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182651548	chr22:22075025-22075026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115355228	chr22:22075038-22075039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369837638	chr22:22075047-22075048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148382488	chr22:22075096-22075097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373648495	chr22:22075102-22075103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530672640	chr22:22075103-22075104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60040471	chr22:22075119-22075120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs572645815	chr22:22075134-22075135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs541254421	chr22:22075159-22075160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141397056	chr22:22075161-22075162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113351829	chr22:22075181-22075182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534152168	chr22:22075183-22075184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571715345	chr22:22075264-22075265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562913014	chr22:22075301-22075302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376942221	chr22:22075305-22075306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561058354	chr22:22075307-22075308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9619486	chr22:22075354-22075355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9622048	chr22:22075355-22075356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34631495	chr22:22075359-22075360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548699783	chr22:22075410-22075411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79088200	chr22:22075411-22075412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565637468	chr22:22075415-22075416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528296388	chr22:22075417-22075418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:223)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2079 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:22065000-22076800	Weak transcription	Ovary	ovary
6	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
9	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
11	chr22:22067800-22077000	Weak transcription	Fetal Thymus	thymus
12	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:22068000-22080000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr22:22068000-22081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:22068000-22081000	Weak transcription	Brain Anterior Caudate	brain
16	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
18	chr22:22068200-22074800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
21	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:22069000-22077000	Weak transcription	Right Atrium	heart
23	chr22:22069000-22077800	Weak transcription	Fetal Stomach	stomach
24	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:22069200-22080400	Weak transcription	Thymus	Thymus
26	chr22:22069200-22080800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
28	chr22:22069400-22077600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:22069400-22080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:22069400-22080800	Weak transcription	Dnd41	blood
31	chr22:22069400-22081000	Weak transcription	Brain Germinal Matrix	brain
32	chr22:22069600-22075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:22070400-22075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:22070400-22078200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:22071000-22080800	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:22073200-22074400	Enhancers	Primary B cells from peripheral blood	blood
37	chr22:22073600-22076800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:22073600-22082200	Weak transcription	Lung	lung
39	chr22:22073600-22088800	Weak transcription	Gastric	stomach
40	chr22:22073800-22080200	Weak transcription	Fetal Heart	heart
41	chr22:22074000-22080000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:22074000-22081000	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
44	chr22:22074400-22078400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr22:22075600-22076400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:22075800-22076400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:22076400-22080400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:22076800-22077200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:22076800-22077200	Enhancers	Ovary	ovary

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