Variant report

Variant	esv3384426
Chromosome Location	chr22:20340952-20349050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:365)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20343423-20343848	GM12878	blood:	n/a	n/a
2	BATF	chr22:20348946-20349197	GM12878	blood:	n/a	n/a
3	BATF	chr22:20344908-20345140	GM12878	blood:	n/a	n/a
4	BATF	chr22:20346185-20346381	GM12878	blood:	n/a	n/a
5	BATF	chr22:20343595-20343809	GM12878	blood:	n/a	n/a
6	BATF	chr22:20342284-20342877	GM12878	blood:	n/a	n/a
7	BATF	chr22:20346212-20346419	GM12878	blood:	n/a	n/a
8	BATF	chr22:20343121-20343327	GM12878	blood:	n/a	n/a
9	BATF	chr22:20343864-20344220	GM12878	blood:	n/a	n/a
10	BATF	chr22:20343122-20343360	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:20342147-20342941	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:20343108-20344068	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:20346170-20346459	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:20340608-20341203	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:20342310-20342650	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:20345187-20345362	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:20344966-20345376	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:20341698-20341947	GM12878	blood:	n/a	n/a
19	BHLHE40	chr22:20345360-20345616	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:20348087-20348416	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:20345635-20345881	HepG2	liver:	n/a	n/a
22	BHLHE40	chr22:20347089-20347330	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:20344867-20345228	HepG2	liver:	n/a	n/a
24	BHLHE40	chr22:20345930-20346847	HepG2	liver:	n/a	n/a
25	BHLHE40	chr22:20347360-20347587	HepG2	liver:	n/a	n/a
26	EBF1	chr22:20343903-20344222	GM12878	blood:	n/a	n/a
27	EBF1	chr22:20343912-20344251	GM12878	blood:	n/a	n/a
28	EBF1	chr22:20342302-20342815	GM12878	blood:	n/a	n/a
29	EBF1	chr22:20346293-20346689	GM12878	blood:	n/a	n/a
30	EBF1	chr22:20341874-20342214	GM12878	blood:	n/a	n/a
31	EBF1	chr22:20348951-20349222	GM12878	blood:	n/a	n/a
32	EBF1	chr22:20342597-20342809	GM12878	blood:	n/a	n/a
33	EP300	chr22:20342562-20342843	GM12878	blood:	n/a	n/a
34	EP300	chr22:20346267-20346456	HepG2	liver:	n/a	n/a
35	EP300	chr22:20345972-20346547	GM12878	blood:	n/a	n/a
36	EP300	chr22:20342149-20342927	GM12878	blood:	n/a	n/a
37	EP300	chr22:20346324-20346474	GM12878	blood:	n/a	n/a
38	EP300	chr22:20348883-20349257	GM12878	blood:	n/a	n/a
39	EP300	chr22:20346906-20348021	GM12878	blood:	n/a	chr22:20347883-20347892
40	EP300	chr22:20344484-20345758	GM12878	blood:	n/a	n/a
41	EP300	chr22:20345022-20345188	GM12878	blood:	n/a	n/a
42	EP300	chr22:20346994-20347247	GM12878	blood:	n/a	n/a
43	EP300	chr22:20340804-20340954	GM12878	blood:	n/a	n/a
44	EP300	chr22:20342327-20342512	GM12878	blood:	n/a	n/a
45	EP300	chr22:20341507-20341895	GM12878	blood:	n/a	n/a
46	EP300	chr22:20343123-20344164	GM12878	blood:	n/a	n/a
47	EP300	chr22:20345276-20345455	GM12878	blood:	n/a	n/a
48	EP300	chr22:20340628-20341459	GM12878	blood:	n/a	n/a
49	EP300	chr22:20346157-20346370	HepG2	liver:	n/a	n/a
50	FOSL2	chr22:20348874-20349343	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20342562-20342612	HMEC	breast:	n/a
2	chr22:20341137-20341187	NT2-D1	testis:	n/a
3	chr22:20341137-20341187	A549	lung:	n/a
4	chr22:20342520-20342570	GM12892	blood:	n/a
5	chr22:20342562-20342612	Jurkat	blood:	n/a
6	chr22:20343300-20343350	ProgFib	skin:	n/a
7	chr22:20342562-20342612	A549	lung:	n/a
8	chr22:20343300-20343350	GM19239	blood:	n/a
9	chr22:20342562-20342612	NHDF-neo	bronchial:	n/a
10	chr22:20342562-20342612	RPTEC	kidney:	n/a
11	chr22:20343300-20343350	AG04449	skin:	fetal
12	chr22:20342520-20342570	ECC-1	luminal epithelium:	n/a
13	chr22:20341137-20341187	BE2_C	brain:	n/a
14	chr22:20343300-20343350	MCF-7	breast:	n/a
15	chr22:20342520-20342570	Caco-2	colon:	n/a
16	chr22:20342520-20342570	PrEC	prostate:	n/a
17	chr22:20342520-20342570	NHDF-neo	bronchial:	n/a
18	chr22:20342562-20342612	H1-hESC	embryonic stem cell:	embryo
19	chr22:20342562-20342612	IMR90	lung:	fetal
20	chr22:20342562-20342612	GM06990	blood:	n/a
21	chr22:20342520-20342570	PFSK-1	brain:	n/a
22	chr22:20342520-20342570	HRPEpiC	eye:	n/a
23	chr22:20342562-20342612	AG10803	skin:	n/a
24	chr22:20342562-20342612	ECC-1	luminal epithelium:	n/a
25	chr22:20341137-20341187	SKMC	muscle:	n/a
26	chr22:20342562-20342612	HL-60	blood:	n/a
27	chr22:20343300-20343350	AG09319	gingival:	n/a
28	chr22:20342520-20342570	AG09309	skin:	n/a
29	chr22:20341137-20341187	NHBE	bronchial:	n/a
30	chr22:20342520-20342570	HEK293	kidney:	embryo
31	chr22:20342562-20342612	HCF	heart:	n/a
32	chr22:20342562-20342612	NT2-D1	testis:	n/a
33	chr22:20341137-20341187	PFSK-1	brain:	n/a
34	chr22:20341137-20341187	U87	brain:	n/a
35	chr22:20341137-20341187	SK-N-SH	brain:	n/a
36	chr22:20342520-20342570	BJ	skin:	n/a
37	chr22:20342520-20342570	SAEC	small airway:	n/a
38	chr22:20343300-20343350	A549	lung:	n/a
39	chr22:20343300-20343350	IMR90	lung:	fetal
40	chr22:20342562-20342612	AoSMC	blood vessel:	n/a
41	chr22:20343300-20343350	SK-N-SH_RA	brain:	n/a
42	chr22:20342562-20342612	GM12878	blood:	n/a
43	chr22:20342562-20342612	MCF-7	breast:	n/a
44	chr22:20342562-20342612	LNCaP	prostate:	n/a
45	chr22:20342520-20342570	GM19239	blood:	n/a
46	chr22:20343300-20343350	GM06990	blood:	n/a
47	chr22:20342562-20342612	NB4	blood:	n/a
48	chr22:20341137-20341187	HPAEpiC	pulmonary alveolar:	n/a
49	chr22:20342562-20342612	ProgFib	skin:	n/a
50	chr22:20342562-20342612	HRPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007663.1-2	chr22:20342936-20342955	ENSG00000188424.4
2	lnc-GGTLC3-1	chr22:20341010-20341114	ENSG00000230410

No data

Variant related genes	Relation type
ENSG00000230410	TF binding region
ENSG00000230410	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62218567	chr22:20340981-20340982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537780205	chr22:20340990-20340991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200279950	chr22:20341138-20341139	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs574213206	chr22:20341142-20341143	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs536342927	chr22:20341154-20341155	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs553506061	chr22:20341430-20341431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182804923	chr22:20341446-20341447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371680902	chr22:20341748-20341749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375471964	chr22:20341778-20341779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369753901	chr22:20341817-20341818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373214565	chr22:20341846-20341847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376194795	chr22:20341876-20341877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545433750	chr22:20341918-20341919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62218569	chr22:20341923-20341924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62218570	chr22:20341925-20341926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62218571	chr22:20341927-20341928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62218572	chr22:20341929-20341930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62218573	chr22:20341938-20341939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62218574	chr22:20341946-20341947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs62218575	chr22:20341952-20341953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62218576	chr22:20341954-20341955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62218577	chr22:20341961-20341962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577845698	chr22:20341968-20341969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543741560	chr22:20341977-20341978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62218578	chr22:20341983-20341984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62218579	chr22:20341986-20341987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62218580	chr22:20341994-20341995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62218609	chr22:20342010-20342011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62218610	chr22:20342013-20342014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549844862	chr22:20342019-20342020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs62218611	chr22:20342027-20342028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372865562	chr22:20342028-20342029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377103934	chr22:20342054-20342055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs77398770	chr22:20342064-20342065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12167870	chr22:20342076-20342077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548765360	chr22:20342103-20342104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142563569	chr22:20342105-20342106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201304930	chr22:20342106-20342107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370227910	chr22:20342114-20342115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12167504	chr22:20342118-20342119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374712408	chr22:20342130-20342131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377742602	chr22:20342137-20342138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534093718	chr22:20342139-20342140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs75349106	chr22:20342140-20342141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76504310	chr22:20342145-20342146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368337885	chr22:20342148-20342149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113577352	chr22:20342157-20342158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539626801	chr22:20342172-20342173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs537331475	chr22:20342178-20342179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs78243422	chr22:20342193-20342194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20345800-20346400	Enhancers	HepG2	liver

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