Variant report

Variant	esv17920
Chromosome Location	chr22:21564890-21679017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2561)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2561 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21592118-21592318	HepG2	liver:	n/a	n/a
2	BATF	chr22:21656504-21656819	GM12878	blood:	n/a	n/a
3	BATF	chr22:21598960-21599438	GM12878	blood:	n/a	n/a
4	BATF	chr22:21612702-21613053	GM12878	blood:	n/a	n/a
5	BATF	chr22:21659286-21659493	GM12878	blood:	n/a	n/a
6	BATF	chr22:21665627-21665835	GM12878	blood:	n/a	n/a
7	BATF	chr22:21671350-21671638	GM12878	blood:	n/a	n/a
8	BATF	chr22:21640199-21640520	GM12878	blood:	n/a	n/a
9	BATF	chr22:21667975-21668247	GM12878	blood:	n/a	n/a
10	BATF	chr22:21630913-21631158	GM12878	blood:	n/a	n/a
11	BATF	chr22:21649952-21650430	GM12878	blood:	n/a	n/a
12	BATF	chr22:21661486-21661800	GM12878	blood:	n/a	n/a
13	BATF	chr22:21629855-21630214	GM12878	blood:	n/a	n/a
14	BATF	chr22:21649545-21649756	GM12878	blood:	n/a	chr22:21649662-21649673
15	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
16	BATF	chr22:21664688-21664901	GM12878	blood:	n/a	n/a
17	BATF	chr22:21662377-21662584	GM12878	blood:	n/a	n/a
18	BATF	chr22:21598470-21598721	GM12878	blood:	n/a	chr22:21598499-21598512
19	BATF	chr22:21666477-21666908	GM12878	blood:	n/a	chr22:21666820-21666830
20	BATF	chr22:21643643-21643852	GM12878	blood:	n/a	n/a
21	BATF	chr22:21668510-21668775	GM12878	blood:	n/a	n/a
22	BATF	chr22:21622260-21622514	GM12878	blood:	n/a	n/a
23	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
24	BATF	chr22:21629925-21630195	GM12878	blood:	n/a	n/a
25	BATF	chr22:21647063-21647283	GM12878	blood:	n/a	n/a
26	BATF	chr22:21670784-21671270	GM12878	blood:	n/a	n/a
27	BATF	chr22:21595314-21596320	GM12878	blood:	n/a	n/a
28	BATF	chr22:21677006-21677202	GM12878	blood:	n/a	n/a
29	BATF	chr22:21589609-21589832	GM12878	blood:	n/a	n/a
30	BATF	chr22:21655763-21656117	GM12878	blood:	n/a	n/a
31	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
32	BATF	chr22:21661858-21662246	GM12878	blood:	n/a	n/a
33	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
34	BATF	chr22:21633690-21634128	GM12878	blood:	n/a	n/a
35	BATF	chr22:21667217-21667566	GM12878	blood:	n/a	n/a
36	BATF	chr22:21661897-21662111	GM12878	blood:	n/a	n/a
37	BATF	chr22:21660566-21660798	GM12878	blood:	n/a	n/a
38	BATF	chr22:21643759-21643961	GM12878	blood:	n/a	n/a
39	BATF	chr22:21596510-21596681	GM12878	blood:	n/a	n/a
40	BATF	chr22:21642702-21642952	GM12878	blood:	n/a	n/a
41	BATF	chr22:21598826-21599972	GM12878	blood:	n/a	n/a
42	BATF	chr22:21665661-21665880	GM12878	blood:	n/a	n/a
43	BATF	chr22:21664502-21664702	GM12878	blood:	n/a	n/a
44	BATF	chr22:21653924-21654130	GM12878	blood:	n/a	n/a
45	BATF	chr22:21643995-21645011	GM12878	blood:	n/a	n/a
46	BATF	chr22:21644369-21644724	GM12878	blood:	n/a	n/a
47	BATF	chr22:21659324-21659520	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:21592466-21592660	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:21673708-21673878	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:21597186-21597443	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21621725-21621775	HMEC	breast:	n/a
2	chr22:21664376-21664426	U87	brain:	n/a
3	chr22:21567227-21567277	AG09309	skin:	n/a
4	chr22:21664376-21664426	T-47D	breast:	n/a
5	chr22:21636512-21636562	U87	brain:	n/a
6	chr22:21664376-21664426	HCM	heart:	n/a
7	chr22:21567227-21567277	GM12892	blood:	n/a
8	chr22:21639231-21639281	BJ	skin:	n/a
9	chr22:21567227-21567277	LNCaP	prostate:	n/a
10	chr22:21660828-21660878	Jurkat	blood:	n/a
11	chr22:21567227-21567277	HCT-116	colon:	n/a
12	chr22:21621725-21621775	GM12878	blood:	n/a
13	chr22:21636474-21636524	NH-A	brain:	n/a
14	chr22:21621725-21621775	SK-N-MC	brain:	n/a
15	chr22:21621725-21621775	AG09309	skin:	n/a
16	chr22:21664376-21664426	MCF10A-Er-Src	breast:	n/a
17	chr22:21660828-21660878	HCM	heart:	n/a
18	chr22:21618908-21618958	AG09309	skin:	n/a
19	chr22:21636512-21636562	Hela-S3	cervix:	n/a
20	chr22:21618908-21618958	BJ	skin:	n/a
21	chr22:21636474-21636524	PFSK-1	brain:	n/a
22	chr22:21636474-21636524	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:21664376-21664426	HEK293	kidney:	embryo
24	chr22:21639231-21639281	H1-hESC	embryonic stem cell:	embryo
25	chr22:21567227-21567277	HCM	heart:	n/a
26	chr22:21618908-21618958	HCPEpiC	choroid plexus:	n/a
27	chr22:21639231-21639281	AoSMC	blood vessel:	n/a
28	chr22:21618908-21618958	ovcar-3	ovarian:	n/a
29	chr22:21639231-21639281	NHBE	bronchial:	n/a
30	chr22:21621725-21621775	SK-N-SH	brain:	n/a
31	chr22:21664376-21664426	Hepatocyte	liver:	n/a
32	chr22:21664376-21664426	HRCEpiC	kidney:	n/a
33	chr22:21618908-21618958	MCF-7	breast:	n/a
34	chr22:21664376-21664426	HL-60	blood:	n/a
35	chr22:21636474-21636524	BJ	skin:	n/a
36	chr22:21636474-21636524	GM12878	blood:	n/a
37	chr22:21664376-21664426	HCPEpiC	choroid plexus:	n/a
38	chr22:21636474-21636524	Caco-2	colon:	n/a
39	chr22:21618908-21618958	HEK293	kidney:	embryo
40	chr22:21664376-21664426	HEEpiC	esophagus:	n/a
41	chr22:21636512-21636562	ovcar-3	ovarian:	n/a
42	chr22:21621725-21621775	Jurkat	blood:	n/a
43	chr22:21660828-21660878	GM12892	blood:	n/a
44	chr22:21660828-21660878	NH-A	brain:	n/a
45	chr22:21636512-21636562	LNCaP	prostate:	n/a
46	chr22:21660828-21660878	BE2_C	brain:	n/a
47	chr22:21621725-21621775	HAEpiC	amniotic membrane:	n/a
48	chr22:21618908-21618958	AoSMC	blood vessel:	n/a
49	chr22:21636512-21636562	ProgFib	skin:	n/a
50	chr22:21639231-21639281	HCM	heart:	n/a

No data

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGT2-2	chr22:21673559-21673645	NONHSAT083653
2	lnc-GGT2-2	chr22:21677085-21677147	ENSG00000206142
3	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
4	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
5	lnc-GGT2-2	chr22:21666029-21666062	NONHSAT083653
6	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
7	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
8	lnc-GGT2-2	chr22:21660358-21661314	ENSG00000206142
9	lnc-GGT2-2	chr22:21675881-21676008	ENSG00000206142
10	lnc-GGT2-2	chr22:21676592-21676616	NONHSAT083653
11	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
12	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
13	lnc-GGT2-2	chr22:21677085-21677166	NONHSAT083653
14	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
15	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
16	lnc-GGT2-2	chr22:21655286-21655713	ENSG00000206142
17	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
18	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
19	lnc-GGT2-2	chr22:21666528-21666589	NONHSAT083653
20	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
21	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
22	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
23	lnc-GGT2-2	chr22:21677085-21677224	ENSG00000206142
24	lnc-GGT2-2	chr22:21660358-21661314	NONHSAT083653
25	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
26	lnc-GGT2-2	chr22:21676237-21676616	ENSG00000206142
27	lnc-GGT2-2	chr22:21655286-21655713	NONHSAT083653
28	lnc-GGT2-2	chr22:21668589-21668654	NONHSAT083653
29	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
30	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
31	lnc-AP000552.1-1	chr22:21668536-21669193	ENSG00000237407
32	lnc-GGT2-2	chr22:21676484-21676616	ENSG00000206142
33	lnc-GGT2-2	chr22:21676430-21676616	ENSG00000206142
34	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
35	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
36	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
37	lnc-AP000552.1-1	chr22:21667209-21667325	ENSG00000237407
38	lnc-GGT2-2	chr22:21677085-21677273	ENSG00000206142
39	lnc-GGT2-2	chr22:21677152-21677166	ENSG00000206142

No data

Variant related genes	Relation type
BCRP6	TF binding region
ENSG00000226885	TF binding region
ENSG00000237407	TF binding region
GGT2	TF binding region
FAM230C	TF binding region
POM121L8P	TF binding region
BCRP6	CpG island
ENSG00000226885	CpG island
ENSG00000237407	CpG island
GGT2	CpG island
FAM230C	CpG island
POM121L8P	CpG island

Extended variants
information (count: 1257 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372839086	chr22:21566227-21566228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374834056	chr22:21566274-21566275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367628610	chr22:21566280-21566281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567037515	chr22:21566428-21566429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538824108	chr22:21566429-21566430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201373668	chr22:21566545-21566546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552376374	chr22:21566583-21566584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144694729	chr22:21566597-21566598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569163698	chr22:21566646-21566647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538160709	chr22:21566653-21566654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554134945	chr22:21566674-21566675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574398551	chr22:21566702-21566703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112402677	chr22:21566739-21566740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368578817	chr22:21566861-21566862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142150538	chr22:21566862-21566863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76920124	chr22:21566897-21566898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79628241	chr22:21566898-21566899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562681511	chr22:21566918-21566919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576393052	chr22:21566966-21566967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542189308	chr22:21567153-21567154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202105890	chr22:21567154-21567155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62241360	chr22:21567200-21567201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372285563	chr22:21567228-21567229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530071592	chr22:21567259-21567260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375567951	chr22:21567275-21567276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9614058	chr22:21567591-21567592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9625860	chr22:21567673-21567674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546989902	chr22:21568084-21568085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560358216	chr22:21568086-21568087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532644566	chr22:21568105-21568106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552314876	chr22:21568117-21568118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201450904	chr22:21568204-21568205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187999128	chr22:21568205-21568206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538146395	chr22:21568213-21568214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548499938	chr22:21568228-21568229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111910563	chr22:21568234-21568235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568033641	chr22:21568294-21568295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9614060	chr22:21568349-21568350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554365135	chr22:21568709-21568710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138934341	chr22:21568711-21568712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533525366	chr22:21568730-21568731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546464503	chr22:21568808-21568809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556567729	chr22:21568866-21568867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9614061	chr22:21568941-21568942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371690295	chr22:21568942-21568943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553731192	chr22:21568945-21568946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369815281	chr22:21568952-21568953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200987796	chr22:21568957-21568958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201668534	chr22:21568970-21568971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375024955	chr22:21568990-21568991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:229)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
2	chr22:21569800-21590800	Weak transcription	Gastric	stomach
3	chr22:21570200-21570800	Enhancers	HMEC	breast
4	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:21576000-21576200	Enhancers	Spleen	Spleen
9	chr22:21590600-21590800	Enhancers	Stomach Mucosa	stomach
10	chr22:21590600-21591200	Enhancers	Pancreas	Pancrea
11	chr22:21590800-21591000	Enhancers	Gastric	stomach
12	chr22:21590800-21591800	Weak transcription	Stomach Mucosa	stomach
13	chr22:21591000-21591800	Weak transcription	Gastric	stomach
14	chr22:21591200-21591600	Weak transcription	Pancreas	Pancrea
15	chr22:21591600-21592800	Enhancers	Pancreas	Pancrea
16	chr22:21591800-21592000	Enhancers	Duodenum Mucosa	Duodenum
17	chr22:21591800-21592200	Enhancers	Fetal Intestine Large	intestine
18	chr22:21591800-21592200	Enhancers	Fetal Intestine Small	intestine
19	chr22:21591800-21592200	Enhancers	Gastric	stomach
20	chr22:21591800-21592200	Enhancers	Stomach Mucosa	stomach
21	chr22:21591800-21592400	Enhancers	HepG2	liver
22	chr22:21592000-21592200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:21592000-21592200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr22:21592200-21592400	Enhancers	Duodenum Mucosa	Duodenum
25	chr22:21592400-21592800	Active TSS	Duodenum Mucosa	Duodenum
26	chr22:21598600-21599000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr22:21604600-21605000	Bivalent Enhancer	HepG2	liver
28	chr22:21607400-21608600	Enhancers	HepG2	liver
29	chr22:21607800-21608200	Enhancers	Fetal Intestine Small	intestine
30	chr22:21607800-21608600	Enhancers	Fetal Intestine Large	intestine
31	chr22:21608400-21608600	Enhancers	HSMMtube	muscle
32	chr22:21608600-21609800	Weak transcription	Fetal Intestine Large	intestine
33	chr22:21608600-21609800	Weak transcription	HepG2	liver
34	chr22:21608600-21610400	Weak transcription	HSMMtube	muscle
35	chr22:21609800-21610200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:21609800-21610600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:21609800-21610600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:21609800-21610600	Enhancers	Hela-S3	cervix
39	chr22:21609800-21611400	Enhancers	HepG2	liver
40	chr22:21610000-21610200	Enhancers	Fetal Intestine Large	intestine
41	chr22:21610400-21611400	Enhancers	HSMMtube	muscle
42	chr22:21610400-21611600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:21649000-21649400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:21649200-21649800	Enhancers	K562	blood

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