Variant report

Variant	esv20893
Chromosome Location	chr22:20312593-20426796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2746)
CpG islands
(count:794)
Chromatin interactive
region (count:2)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2746 , 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	chr22:20338681-20338942	GM12878	blood:	n/a	chr22:20338830-20338841 chr22:20338831-20338841
2	BATF	chr22:20344908-20345140	GM12878	blood:	n/a	n/a
3	BATF	chr22:20338058-20338380	GM12878	blood:	n/a	n/a
4	BATF	chr22:20319289-20319572	GM12878	blood:	n/a	n/a
5	BATF	chr22:20378615-20378824	GM12878	blood:	n/a	n/a
6	BATF	chr22:20359857-20360194	GM12878	blood:	n/a	n/a
7	BATF	chr22:20336819-20337115	GM12878	blood:	n/a	n/a
8	BATF	chr22:20329649-20329893	GM12878	blood:	n/a	n/a
9	BATF	chr22:20330888-20331095	GM12878	blood:	n/a	n/a
10	BATF	chr22:20343595-20343809	GM12878	blood:	n/a	n/a
11	BATF	chr22:20328893-20329077	GM12878	blood:	n/a	n/a
12	BATF	chr22:20346212-20346419	GM12878	blood:	n/a	n/a
13	BATF	chr22:20343864-20344220	GM12878	blood:	n/a	n/a
14	BATF	chr22:20355305-20355563	GM12878	blood:	n/a	n/a
15	BATF	chr22:20325334-20325556	GM12878	blood:	n/a	n/a
16	BATF	chr22:20333989-20334290	GM12878	blood:	n/a	n/a
17	BATF	chr22:20326170-20326467	GM12878	blood:	n/a	n/a
18	BATF	chr22:20365733-20366145	GM12878	blood:	n/a	n/a
19	BATF	chr22:20346185-20346381	GM12878	blood:	n/a	n/a
20	BATF	chr22:20378235-20378418	GM12878	blood:	n/a	n/a
21	BATF	chr22:20326192-20326467	GM12878	blood:	n/a	n/a
22	BATF	chr22:20337378-20337650	GM12878	blood:	n/a	n/a
23	BATF	chr22:20343423-20343848	GM12878	blood:	n/a	n/a
24	BATF	chr22:20342284-20342877	GM12878	blood:	n/a	n/a
25	BATF	chr22:20340730-20340943	GM12878	blood:	n/a	n/a
26	BATF	chr22:20343122-20343360	GM12878	blood:	n/a	n/a
27	BATF	chr22:20348946-20349197	GM12878	blood:	n/a	n/a
28	BATF	chr22:20338718-20339171	GM12878	blood:	n/a	chr22:20338830-20338841 chr22:20338831-20338841
29	BATF	chr22:20319274-20319484	GM12878	blood:	n/a	n/a
30	BATF	chr22:20379205-20379431	GM12878	blood:	n/a	n/a
31	BATF	chr22:20334357-20334843	GM12878	blood:	n/a	n/a
32	BATF	chr22:20339791-20339999	GM12878	blood:	n/a	n/a
33	BATF	chr22:20343121-20343327	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:20346170-20346459	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:20321425-20321604	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:20360094-20360447	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:20343108-20344068	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:20330008-20330277	GM12878	blood:	n/a	n/a
39	BCL11A	chr22:20424439-20424711	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:20338589-20338836	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:20326174-20326459	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:20344966-20345376	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:20350132-20350302	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:20326163-20326485	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:20333951-20334849	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:20342310-20342650	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:20349704-20349929	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:20325300-20325448	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:20351272-20351516	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:20359843-20360086	GM12878	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20423500-20423550	RPTEC	kidney:	n/a
2	chr22:20423500-20423550	RPTEC	kidney:	n/a
3	chr22:20343300-20343350	HL-60	blood:	n/a
4	chr22:20342562-20342612	NHDF-neo	bronchial:	n/a
5	chr22:20399974-20400024	SAEC	small airway:	n/a
6	chr22:20376405-20376455	IMR90	lung:	fetal
7	chr22:20381640-20381690	NHDF-neo	bronchial:	n/a
8	chr22:20381640-20381690	HCF	heart:	n/a
9	chr22:20343300-20343350	Jurkat	blood:	n/a
10	chr22:20376405-20376455	Jurkat	blood:	n/a
11	chr22:20341137-20341187	RPTEC	kidney:	n/a
12	chr22:20399974-20400024	IMR90	lung:	fetal
13	chr22:20341137-20341187	HCPEpiC	choroid plexus:	n/a
14	chr22:20399974-20400024	HIPEpiC	eye:	n/a
15	chr22:20343300-20343350	NH-A	brain:	n/a
16	chr22:20381640-20381690	NHBE	bronchial:	n/a
17	chr22:20384320-20384370	BJ	skin:	n/a
18	chr22:20342520-20342570	HRCEpiC	kidney:	n/a
19	chr22:20423500-20423550	HEK293	kidney:	embryo
20	chr22:20400015-20400065	SKMC	muscle:	n/a
21	chr22:20342562-20342612	NB4	blood:	n/a
22	chr22:20423500-20423550	HL-60	blood:	n/a
23	chr22:20376405-20376455	ovcar-3	ovarian:	n/a
24	chr22:20343300-20343350	HCT-116	colon:	n/a
25	chr22:20400015-20400065	NHBE	bronchial:	n/a
26	chr22:20381640-20381690	GM12878	blood:	n/a
27	chr22:20378953-20379003	Caco-2	colon:	n/a
28	chr22:20384320-20384370	PANC-1	pancreas:	n/a
29	chr22:20342562-20342612	U87	brain:	n/a
30	chr22:20399601-20399651	HUVEC	blood vessel:	n/a
31	chr22:20400015-20400065	IMR90	lung:	fetal
32	chr22:20342520-20342570	HCT-116	colon:	n/a
33	chr22:20378953-20379003	BJ	skin:	n/a
34	chr22:20384320-20384370	SK-N-MC	brain:	n/a
35	chr22:20378953-20379003	K562	blood:	n/a
36	chr22:20343300-20343350	HRCEpiC	kidney:	n/a
37	chr22:20400015-20400065	BE2_C	brain:	n/a
38	chr22:20384320-20384370	HL-60	blood:	n/a
39	chr22:20423500-20423550	A549	lung:	n/a
40	chr22:20384320-20384370	HCT-116	colon:	n/a
41	chr22:20381640-20381690	HIPEpiC	eye:	n/a
42	chr22:20399974-20400024	NT2-D1	testis:	n/a
43	chr22:20399974-20400024	NHBE	bronchial:	n/a
44	chr22:20384320-20384370	PFSK-1	brain:	n/a
45	chr22:20423500-20423550	SK-N-MC	brain:	n/a
46	chr22:20342520-20342570	HL-60	blood:	n/a
47	chr22:20381640-20381690	HUVEC	blood vessel:	n/a
48	chr22:20342562-20342612	PFSK-1	brain:	n/a
49	chr22:20342562-20342612	AG04450	lung:	fetal
50	chr22:20343300-20343350	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:
2	chr22:20310368..20313207-chr22:20800660..20802484,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGTLC3-1	chr22:20337736-20338450	ENSG00000230410
2	lnc-DGCR6L-1	chr22:20330726-20331038	XLOC_014300
3	lnc-AC007663.1-2	chr22:20342936-20342955	ENSG00000188424.4
4	lnc-DGCR6L-1	chr22:20331756-20331888	XLOC_014300
5	lnc-AC007663.1-2	chr22:20332017-20332103	ENSG00000188424.4
6	lnc-AC007663.1-2	chr22:20329047-20329071	ENSG00000188424.4
7	lnc-GGTLC3-1	chr22:20341010-20341114	ENSG00000230410
8	lnc-AC007663.1-2	chr22:20325666-20325693	ENSG00000188424.4
9	lnc-GGTLC3-1	chr22:20336866-20337124	ENSG00000230410
10	lnc-AC007663.1-2	chr22:20337006-20337071	ENSG00000188424.4
11	lnc-GGTLC3-1	chr22:20338334-20338449	ENSG00000230410
12	lnc-AC007663.1-2	chr22:20328520-20328578	ENSG00000188424.4
13	lnc-AC007663.1-2	chr22:20339599-20339632	ENSG00000188424.4
14	lnc-AC007663.1-2	chr22:20339072-20339133	ENSG00000188424.4
15	lnc-AC007663.1-5	chr22:20420432-20420591	XLOC_014158
16	lnc-AC007663.1-5	chr22:20404157-20404240	XLOC_014158
17	lnc-AC007663.1-5	chr22:20401139-20401184	XLOC_014158

No data

Variant related genes	Relation type
ENSG00000235704	TF binding region
ENSG00000206176	TF binding region
GGTLC3	TF binding region
DGCR6L	TF binding region
ENSG00000230410	TF binding region
ENSG00000235578	TF binding region
ENSG00000188424	TF binding region
PI4KAP1	TF binding region
ENSG00000235704	CpG island
ENSG00000206176	CpG island
GGTLC3	CpG island
DGCR6L	CpG island
ENSG00000230410	CpG island
ENSG00000235578	CpG island
ENSG00000188424	CpG island
PI4KAP1	CpG island
ENSG00000099910	chromatin interactions
ENSG00000161179	chromatin interactions
AFTPH	miRNA target sites
E2F1	miRNA target sites
AGFG1	miRNA target sites

Extended variants
information (count: 1434 )
Associated
traits (count: 234 )

Variant overlapped rSNPs/rCNVs (count:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9606322	chr22:20312602-20312603	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568697555	chr22:20312616-20312617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9606323	chr22:20312668-20312669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376324341	chr22:20312700-20312701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370378383	chr22:20312723-20312724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9606324	chr22:20312737-20312738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1309267	chr22:20312825-20312826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146399175	chr22:20312878-20312879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111862489	chr22:20312879-20312880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554282438	chr22:20312930-20312931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550697009	chr22:20312945-20312946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539821395	chr22:20312963-20312964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558387996	chr22:20312979-20312980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575184359	chr22:20313006-20313007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112429020	chr22:20313011-20313012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370759034	chr22:20313039-20313040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62217961	chr22:20313086-20313087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56407284	chr22:20313299-20313300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574618558	chr22:20313490-20313491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539949579	chr22:20313498-20313499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189281804	chr22:20313665-20313666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116141170	chr22:20313666-20313667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180894894	chr22:20313706-20313707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563146444	chr22:20313720-20313721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532019682	chr22:20313730-20313731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530184007	chr22:20313736-20313737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187244038	chr22:20313755-20313756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568551034	chr22:20313783-20313784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527930375	chr22:20313824-20313825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1309268	chr22:20313930-20313931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547525545	chr22:20313946-20313947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570932035	chr22:20314121-20314122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200183474	chr22:20314124-20314125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539415100	chr22:20314157-20314158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5762589	chr22:20314300-20314301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556117911	chr22:20314354-20314355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201537272	chr22:20314462-20314463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569752500	chr22:20314472-20314473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537741267	chr22:20314479-20314480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554492695	chr22:20314605-20314606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574500468	chr22:20314629-20314630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111844073	chr22:20314648-20314649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540432084	chr22:20314657-20314658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553553418	chr22:20314680-20314681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374434750	chr22:20314699-20314700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139118237	chr22:20314716-20314717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545941925	chr22:20314732-20314733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562451517	chr22:20314778-20314779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112286989	chr22:20315290-20315291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531374256	chr22:20315294-20315295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:234)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal cancer	21851588	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Urothelial carcinoma	21177765	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20962326	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20308800-20313400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:20309200-20313200	Weak transcription	Spleen	Spleen
3	chr22:20309200-20327000	Weak transcription	Right Atrium	heart
4	chr22:20309400-20315600	Weak transcription	Dnd41	blood
5	chr22:20311800-20315800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:20311800-20316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:20312000-20313600	Weak transcription	Primary T cells from cord blood	blood
8	chr22:20312000-20313600	Weak transcription	Fetal Thymus	thymus
9	chr22:20312000-20315800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr22:20312200-20313600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:20312200-20314600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:20312200-20315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:20312200-20315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr22:20312200-20316000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr22:20312200-20316000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:20312200-20316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:20313600-20313800	Enhancers	Primary T cells from cord blood	blood
18	chr22:20313600-20313800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr22:20313600-20313800	Enhancers	Fetal Thymus	thymus
20	chr22:20313800-20314200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:20313800-20314600	Weak transcription	Fetal Thymus	thymus
22	chr22:20314200-20314800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr22:20314600-20314800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr22:20314600-20314800	Enhancers	Fetal Thymus	thymus
25	chr22:20315400-20315600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:20315400-20316200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr22:20315400-20317000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:20315600-20316400	Flanking Active TSS	Dnd41	blood
29	chr22:20315600-20317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:20315800-20316400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:20315800-20316800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr22:20316000-20316200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr22:20316000-20316200	Enhancers	K562	blood
34	chr22:20316000-20317000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:20316200-20316400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr22:20316200-20316400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr22:20316200-20316400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr22:20316200-20316400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:20316200-20316400	Bivalent Enhancer	K562	blood
40	chr22:20316200-20317000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:20316200-20317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:20316400-20316600	Enhancers	K562	blood
43	chr22:20316400-20317000	Enhancers	Dnd41	blood
44	chr22:20316800-20317000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr22:20316800-20317000	Enhancers	K562	blood
46	chr22:20325600-20325800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:20325600-20326000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr22:20325800-20326000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr22:20325800-20326400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:20325800-20326400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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