Variant report

Variant	esv11245
Chromosome Location	chr22:21461592-21519224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21462458-21463637	K562	blood:	n/a	n/a
2	ATF3	chr22:21505263-21505378	K562	blood:	n/a	chr22:21505324-21505335 chr22:21505327-21505337 chr22:21505324-21505334 chr22:21505323-21505336 chr22:21505325-21505338 chr22:21505323-21505338 chr22:21505325-21505336 chr22:21505327-21505335 chr22:21505315-21505335 chr22:21505325-21505336 chr22:21505324-21505334 chr22:21505327-21505334 chr22:21505324-21505337 chr22:21505324-21505337
3	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
4	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr22:21474047-21475063	GM12878	blood:	n/a	n/a
6	BATF	chr22:21487931-21488176	GM12878	blood:	n/a	n/a
7	BATF	chr22:21475097-21475299	GM12878	blood:	n/a	n/a
8	BATF	chr22:21484942-21485380	GM12878	blood:	n/a	n/a
9	BATF	chr22:21476106-21476356	GM12878	blood:	n/a	n/a
10	BATF	chr22:21488874-21489181	GM12878	blood:	n/a	n/a
11	BATF	chr22:21471783-21471995	GM12878	blood:	n/a	n/a
12	BATF	chr22:21496561-21496815	GM12878	blood:	n/a	n/a
13	BATF	chr22:21468628-21469019	GM12878	blood:	n/a	n/a
14	BATF	chr22:21469301-21469556	GM12878	blood:	n/a	chr22:21469418-21469429
15	BATF	chr22:21488893-21489171	GM12878	blood:	n/a	n/a
16	BATF	chr22:21478538-21478859	GM12878	blood:	n/a	n/a
17	BATF	chr22:21474334-21474742	GM12878	blood:	n/a	n/a
18	BATF	chr22:21478910-21479111	GM12878	blood:	n/a	n/a
19	BATF	chr22:21473984-21474189	GM12878	blood:	n/a	n/a
20	BATF	chr22:21514000-21514283	GM12878	blood:	n/a	n/a
21	BCL11A	chr22:21480752-21480991	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:21469187-21469804	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:21485914-21486157	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:21469248-21469721	GM12878	blood:	n/a	n/a
25	BCL11A	chr22:21516133-21516312	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:21475091-21475377	GM12878	blood:	n/a	n/a
27	BCL11A	chr22:21496640-21496840	GM12878	blood:	n/a	n/a
28	BCL11A	chr22:21470256-21470442	GM12878	blood:	n/a	n/a
29	BCL11A	chr22:21470877-21471204	GM12878	blood:	n/a	chr22:21471143-21471151
30	BCL11A	chr22:21474695-21475023	GM12878	blood:	n/a	n/a
31	BCL11A	chr22:21488906-21489207	GM12878	blood:	n/a	n/a
32	BCL11A	chr22:21474019-21474638	GM12878	blood:	n/a	n/a
33	BCL11A	chr22:21476172-21476346	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:21473957-21475002	GM12878	blood:	n/a	n/a
35	BHLHE40	chr22:21469164-21469628	HepG2	liver:	n/a	n/a
36	BHLHE40	chr22:21496694-21496924	HepG2	liver:	n/a	chr22:21496842-21496851 chr22:21496843-21496852 chr22:21496840-21496853 chr22:21496842-21496851
37	BHLHE40	chr22:21474060-21474462	HepG2	liver:	n/a	n/a
38	BHLHE40	chr22:21494910-21495238	HepG2	liver:	n/a	n/a
39	CBX3	chr22:21473925-21474879	K562	blood:	n/a	n/a
40	CBX3	chr22:21496424-21497104	K562	blood:	n/a	n/a
41	CBX3	chr22:21496504-21496981	K562	blood:	n/a	n/a
42	CBX3	chr22:21474040-21474599	K562	blood:	n/a	n/a
43	CCNT2	chr22:21463069-21463100	K562	blood:	n/a	n/a
44	CEBPB	chr22:21474107-21474592	K562	blood:	n/a	n/a
45	CEBPB	chr22:21492689-21492898	HepG2	liver:	n/a	chr22:21492730-21492741 chr22:21492729-21492742
46	CEBPD	chr22:21499198-21499779	K562	blood:	n/a	n/a
47	CTCF	chr22:21473968-21474614	A549	lung:	n/a	chr22:21474277-21474298 chr22:21474275-21474293 chr22:21474278-21474291 chr22:21474276-21474292
48	CTCF	chr22:21503620-21503770	GM12875	blood:	n/a	n/a
49	CTCF	chr22:21474203-21474522	LNCaP	prostate:	n/a	chr22:21474277-21474298 chr22:21474275-21474293 chr22:21474278-21474291 chr22:21474276-21474292
50	CTCF	chr22:21485155-21485162	GM10248	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21480518-21480568	HepG2	liver:	n/a
2	chr22:21479855-21479905	HPAEpiC	pulmonary alveolar:	n/a
3	chr22:21505345-21505395	NHDF-neo	bronchial:	n/a
4	chr22:21479855-21479905	A549	lung:	n/a
5	chr22:21479855-21479905	U87	brain:	n/a
6	chr22:21505345-21505395	ECC-1	luminal epithelium:	n/a
7	chr22:21482479-21482529	PANC-1	pancreas:	n/a
8	chr22:21480518-21480568	SK-N-MC	brain:	n/a
9	chr22:21480518-21480568	LNCaP	prostate:	n/a
10	chr22:21480518-21480568	NT2-D1	testis:	n/a
11	chr22:21480518-21480568	RPTEC	kidney:	n/a
12	chr22:21479855-21479905	HEEpiC	esophagus:	n/a
13	chr22:21479855-21479905	HL-60	blood:	n/a
14	chr22:21505345-21505395	NT2-D1	testis:	n/a
15	chr22:21505676-21505726	HL-60	blood:	n/a
16	chr22:21482479-21482529	PrEC	prostate:	n/a
17	chr22:21482479-21482529	AG09309	skin:	n/a
18	chr22:21505345-21505395	HepG2	liver:	n/a
19	chr22:21505676-21505726	PrEC	prostate:	n/a
20	chr22:21480518-21480568	HMEC	breast:	n/a
21	chr22:21479855-21479905	LNCaP	prostate:	n/a
22	chr22:21505676-21505726	PANC-1	pancreas:	n/a
23	chr22:21482479-21482529	SK-N-MC	brain:	n/a
24	chr22:21505676-21505726	AoSMC	blood vessel:	n/a
25	chr22:21479855-21479905	PANC-1	pancreas:	n/a
26	chr22:21479855-21479905	AG09319	gingival:	n/a
27	chr22:21482479-21482529	AoSMC	blood vessel:	n/a
28	chr22:21480518-21480568	K562	blood:	n/a
29	chr22:21482479-21482529	GM12891	blood:	n/a
30	chr22:21480518-21480568	HCM	heart:	n/a
31	chr22:21505676-21505726	MCF-7	breast:	n/a
32	chr22:21482479-21482529	AG04449	skin:	fetal
33	chr22:21482479-21482529	GM12892	blood:	n/a
34	chr22:21505676-21505726	NH-A	brain:	n/a
35	chr22:21505345-21505395	HNPCEpiC	eye:	n/a
36	chr22:21479855-21479905	AG04450	lung:	fetal
37	chr22:21480518-21480568	U87	brain:	n/a
38	chr22:21482479-21482529	NT2-D1	testis:	n/a
39	chr22:21479855-21479905	SKMC	muscle:	n/a
40	chr22:21479855-21479905	AG10803	skin:	n/a
41	chr22:21505676-21505726	SK-N-SH	brain:	n/a
42	chr22:21482479-21482529	NHBE	bronchial:	n/a
43	chr22:21482479-21482529	Hepatocyte	liver:	n/a
44	chr22:21482479-21482529	SK-N-SH_RA	brain:	n/a
45	chr22:21505676-21505726	HCPEpiC	choroid plexus:	n/a
46	chr22:21505676-21505726	GM19239	blood:	n/a
47	chr22:21480518-21480568	AG09319	gingival:	n/a
48	chr22:21480518-21480568	AG10803	skin:	n/a
49	chr22:21479855-21479905	GM19239	blood:	n/a
50	chr22:21482479-21482529	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
2	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
3	chr22:21355602..21358079-chr22:21461383..21463245,2	MCF-7	breast:
4	chr22:21356384..21358791-chr22:21460678..21463188,2	K562	blood:

Variant related genes	Relation type
ENSG00000224688	TF binding region
BCRP2	TF binding region
ENSG00000197210	TF binding region
FAM230B	TF binding region
POM121L7	TF binding region
ENSG00000224688	CpG island
BCRP2	CpG island
ENSG00000197210	CpG island
FAM230B	CpG island
POM121L7	CpG island
ENSG00000230513	chromatin interactions
ENSG00000184436	chromatin interactions

Extended variants
information (count: 460 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566161924	chr22:21461592-21461593	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs5762401	chr22:21461607-21461608	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55851001	chr22:21461648-21461649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558210071	chr22:21461656-21461657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192845202	chr22:21461723-21461724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537075539	chr22:21461766-21461767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557077374	chr22:21461775-21461776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573743837	chr22:21461879-21461880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11703357	chr22:21461882-21461883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553086148	chr22:21461893-21461894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563969802	chr22:21461911-21461912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539262897	chr22:21461940-21461941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77283135	chr22:21461958-21461959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78550870	chr22:21461961-21461962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2543399	chr22:21461982-21461983	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545278729	chr22:21462004-21462005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564882531	chr22:21462005-21462006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533131915	chr22:21462007-21462008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543444150	chr22:21462016-21462017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2543400	chr22:21462045-21462046	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184046001	chr22:21462067-21462068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368025368	chr22:21462101-21462102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549220773	chr22:21462123-21462124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146116883	chr22:21462130-21462131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2541928	chr22:21462161-21462162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561336433	chr22:21462188-21462189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528729126	chr22:21462208-21462209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552084716	chr22:21462274-21462275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6005669	chr22:21462330-21462331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572004335	chr22:21462342-21462343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140392	chr22:21462353-21462354	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556969564	chr22:21462492-21462493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7284734	chr22:21462534-21462535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536300350	chr22:21462549-21462550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62238569	chr22:21462601-21462602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73166604	chr22:21462607-21462608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552833251	chr22:21462612-21462613	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572991208	chr22:21462625-21462626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199634095	chr22:21462641-21462642	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73166606	chr22:21462658-21462659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558412449	chr22:21462736-21462737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113416775	chr22:21462738-21462739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544119401	chr22:21462783-21462784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568757241	chr22:21462786-21462787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187146752	chr22:21462811-21462812	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577978917	chr22:21462816-21462817	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12168041	chr22:21462817-21462818	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112277962	chr22:21462826-21462827	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573992539	chr22:21462883-21462884	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543106235	chr22:21462896-21462897	Enhancers Weak transcription	Chromatin interactive region	2 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	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
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
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
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21457400-21470400	Weak transcription	Right Atrium	heart
2	chr22:21460600-21462400	Weak transcription	A549	lung
3	chr22:21460800-21461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:21461000-21461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:21461200-21463200	Weak transcription	K562	blood
6	chr22:21462400-21464000	Enhancers	A549	lung
7	chr22:21462600-21463800	Enhancers	Hela-S3	cervix
8	chr22:21462800-21463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:21463200-21463600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr22:21463200-21463800	Enhancers	K562	blood
11	chr22:21483400-21483800	Enhancers	K562	blood
12	chr22:21492600-21493000	Enhancers	HepG2	liver
13	chr22:21497000-21497200	Bivalent Enhancer	K562	blood
14	chr22:21503200-21503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

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