Variant report

Variant	esv1801662
Chromosome Location	chr22:21502145-21610821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2444)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2444 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

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	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	BATF	chr22:21555841-21556178	GM12878	blood:	n/a	n/a
4	BATF	chr22:21534431-21534821	GM12878	blood:	n/a	chr22:21534544-21534554
5	BATF	chr22:21521921-21522186	GM12878	blood:	n/a	n/a
6	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
7	BATF	chr22:21533096-21533364	GM12878	blood:	n/a	n/a
8	BATF	chr22:21530065-21530551	GM12878	blood:	n/a	n/a
9	BATF	chr22:21521889-21522186	GM12878	blood:	n/a	n/a
10	BATF	chr22:21526589-21526811	GM12878	blood:	n/a	n/a
11	BATF	chr22:21537247-21537499	GM12878	blood:	n/a	n/a
12	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
13	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
14	BATF	chr22:21598960-21599438	GM12878	blood:	n/a	n/a
15	BATF	chr22:21520245-21520522	GM12878	blood:	n/a	n/a
16	BATF	chr22:21520279-21520520	GM12878	blood:	n/a	n/a
17	BATF	chr22:21533773-21534122	GM12878	blood:	n/a	n/a
18	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
19	BATF	chr22:21539105-21539312	GM12878	blood:	n/a	n/a
20	BATF	chr22:21596510-21596681	GM12878	blood:	n/a	n/a
21	BATF	chr22:21532564-21532829	GM12878	blood:	n/a	n/a
22	BATF	chr22:21529720-21529985	GM12878	blood:	n/a	n/a
23	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
24	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
25	BATF	chr22:21598470-21598721	GM12878	blood:	n/a	chr22:21598499-21598512
26	BATF	chr22:21521062-21521331	GM12878	blood:	n/a	n/a
27	BATF	chr22:21536563-21536760	GM12878	blood:	n/a	n/a
28	BATF	chr22:21514000-21514283	GM12878	blood:	n/a	n/a
29	BATF	chr22:21539847-21540203	GM12878	blood:	n/a	n/a
30	BATF	chr22:21524608-21524792	GM12878	blood:	n/a	n/a
31	BATF	chr22:21551290-21551548	GM12878	blood:	n/a	n/a
32	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
33	BATF	chr22:21598826-21599972	GM12878	blood:	n/a	n/a
34	BATF	chr22:21536438-21536651	GM12878	blood:	n/a	n/a
35	BATF	chr22:21589609-21589832	GM12878	blood:	n/a	n/a
36	BATF	chr22:21595314-21596320	GM12878	blood:	n/a	n/a
37	BATF	chr22:21535504-21535712	GM12878	blood:	n/a	n/a
38	BATF	chr22:21521061-21521331	GM12878	blood:	n/a	n/a
39	BATF	chr22:21539391-21539831	GM12878	blood:	n/a	n/a
40	BCL11A	chr22:21531098-21531274	GM12878	blood:	n/a	n/a
41	BCL11A	chr22:21561794-21562148	GM12878	blood:	n/a	n/a
42	BCL11A	chr22:21545255-21545668	GM12878	blood:	n/a	n/a
43	BCL11A	chr22:21598457-21598767	GM12878	blood:	n/a	n/a
44	BCL11A	chr22:21525723-21525992	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:21529659-21530557	GM12878	blood:	n/a	n/a
46	BCL11A	chr22:21537465-21537720	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:21521035-21521266	GM12878	blood:	n/a	n/a
48	BCL11A	chr22:21595087-21596596	GM12878	blood:	n/a	chr22:21595372-21595380 chr22:21595811-21595820
49	BCL11A	chr22:21561919-21562177	GM12878	blood:	n/a	n/a
50	BCL11A	chr22:21599067-21599394	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21538194-21538244	AoSMC	blood vessel:	n/a
2	chr22:21537792-21537842	NB4	blood:	n/a
3	chr22:21505345-21505395	AG09319	gingival:	n/a
4	chr22:21539377-21539427	NT2-D1	testis:	n/a
5	chr22:21537792-21537842	NHBE	bronchial:	n/a
6	chr22:21539377-21539427	HRPEpiC	eye:	n/a
7	chr22:21505676-21505726	HepG2	liver:	n/a
8	chr22:21505676-21505726	AG10803	skin:	n/a
9	chr22:21537792-21537842	BE2_C	brain:	n/a
10	chr22:21537792-21537842	PFSK-1	brain:	n/a
11	chr22:21541635-21541685	GM06990	blood:	n/a
12	chr22:21505676-21505726	CMK	blood:	n/a
13	chr22:21537792-21537842	AG04449	skin:	fetal
14	chr22:21567227-21567277	GM06990	blood:	n/a
15	chr22:21538194-21538244	GM12891	blood:	n/a
16	chr22:21537792-21537842	Hepatocyte	liver:	n/a
17	chr22:21538194-21538244	PANC-1	pancreas:	n/a
18	chr22:21505345-21505395	HMEC	breast:	n/a
19	chr22:21539377-21539427	PrEC	prostate:	n/a
20	chr22:21567227-21567277	HRCEpiC	kidney:	n/a
21	chr22:21567227-21567277	T-47D	breast:	n/a
22	chr22:21539377-21539427	GM12891	blood:	n/a
23	chr22:21505345-21505395	GM12892	blood:	n/a
24	chr22:21567227-21567277	HMEC	breast:	n/a
25	chr22:21539377-21539427	AG04449	skin:	fetal
26	chr22:21537792-21537842	HEEpiC	esophagus:	n/a
27	chr22:21505676-21505726	HUVEC	blood vessel:	n/a
28	chr22:21538194-21538244	LNCaP	prostate:	n/a
29	chr22:21537792-21537842	PrEC	prostate:	n/a
30	chr22:21541635-21541685	HRE	kidney:	n/a
31	chr22:21538194-21538244	HCT-116	colon:	n/a
32	chr22:21541635-21541685	BJ	skin:	n/a
33	chr22:21538194-21538244	ovcar-3	ovarian:	n/a
34	chr22:21567227-21567277	NB4	blood:	n/a
35	chr22:21505676-21505726	HEEpiC	esophagus:	n/a
36	chr22:21541635-21541685	T-47D	breast:	n/a
37	chr22:21567227-21567277	HIPEpiC	eye:	n/a
38	chr22:21505676-21505726	HRPEpiC	eye:	n/a
39	chr22:21538194-21538244	HMEC	breast:	n/a
40	chr22:21539377-21539427	GM19239	blood:	n/a
41	chr22:21539377-21539427	GM06990	blood:	n/a
42	chr22:21541635-21541685	Caco-2	colon:	n/a
43	chr22:21538194-21538244	HCPEpiC	choroid plexus:	n/a
44	chr22:21567227-21567277	GM19239	blood:	n/a
45	chr22:21538194-21538244	MCF-7	breast:	n/a
46	chr22:21539377-21539427	HNPCEpiC	eye:	n/a
47	chr22:21538194-21538244	RPTEC	kidney:	n/a
48	chr22:21505345-21505395	HCF	heart:	n/a
49	chr22:21567227-21567277	SAEC	small airway:	n/a
50	chr22:21541635-21541685	CMK	blood:	n/a

No data

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000552.1-2	chr22:21524762-21524894	ENSG00000215498.4
2	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
3	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
4	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
5	lnc-AP000552.1-2	chr22:21524762-21525141	ENSG00000215498.4
6	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
7	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
8	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
9	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
10	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
11	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
12	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
13	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
14	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
15	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
16	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
17	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
18	lnc-GGT2-1	chr22:21532181-21532838	ENSG00000234503
19	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
20	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
21	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
22	lnc-AP000552.1-2	chr22:21522174-21522258	ENSG00000215498.4
23	lnc-GGT2-1	chr22:21534049-21534164	ENSG00000234503
24	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
25	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
26	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
27	lnc-AP000552.1-2	chr22:21535741-21537263	ENSG00000215498.4
28	lnc-AP000552.1-2	chr22:21525370-21525497	ENSG00000215498.4
29	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
30	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
31	lnc-AP000552.1-2	chr22:21524762-21524944	ENSG00000215498.4
32	lnc-AP000552.1-2	chr22:21522118-21522258	ENSG00000215498.4
33	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
34	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
35	lnc-AP000552.1-2	chr22:21524102-21524293	ENSG00000215498.4
36	lnc-AP000552.1-2	chr22:21524154-21524293	ENSG00000215498.4
37	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
38	lnc-AP000552.1-2	chr22:21540410-21541366	ENSG00000215498.4
39	lnc-AP000552.1-2	chr22:21537560-21537611	ENSG00000215498.4
40	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
41	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
42	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4

No data

Variant related genes	Relation type
ENSG00000234503	TF binding region
FAM230B	TF binding region
GGT2	TF binding region
ENSG00000234503	CpG island
FAM230B	CpG island
GGT2	CpG island

Extended variants
information (count: 1387 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531562872	chr22:21503400-21503401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137978508	chr22:21503510-21503511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548174724	chr22:21503517-21503518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75911663	chr22:21503689-21503690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367909746	chr22:21503763-21503764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200619406	chr22:21517254-21517255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371660252	chr22:21517333-21517334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375471867	chr22:21517372-21517373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62239809	chr22:21517397-21517398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9620882	chr22:21517412-21517413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs372009033	chr22:21517452-21517453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376691057	chr22:21517482-21517483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2080588	chr22:21517507-21517508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62239812	chr22:21517515-21517516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550431168	chr22:21517609-21517610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62239813	chr22:21517640-21517641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368706625	chr22:21517642-21517643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371835796	chr22:21517652-21517653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs5762645	chr22:21517672-21517673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199541576	chr22:21517679-21517680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201626435	chr22:21517693-21517694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2262467	chr22:21517725-21517726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs78387953	chr22:21517794-21517795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201310350	chr22:21517842-21517843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201473050	chr22:21517843-21517844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs4051870	chr22:21517857-21517858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201757405	chr22:21518252-21518253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs576039194	chr22:21519805-21519806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs111220804	chr22:21519806-21519807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs192448686	chr22:21519819-21519820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550077110	chr22:21519821-21519822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373491714	chr22:21519824-21519825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563908491	chr22:21519826-21519827	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs185353282	chr22:21519848-21519849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188610677	chr22:21519852-21519853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs192725861	chr22:21519864-21519865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529570708	chr22:21519874-21519875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs549737381	chr22:21519876-21519877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs58655657	chr22:21519879-21519880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188232722	chr22:21519900-21519901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs180974218	chr22:21519935-21519936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs528127578	chr22:21519937-21519938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs183564234	chr22:21519948-21519949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs372663571	chr22:21519955-21519956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189517531	chr22:21519972-21519973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182372757	chr22:21519979-21519980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181354923	chr22:21520057-21520058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186373571	chr22:21520063-21520064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs190178547	chr22:21520064-21520065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182395459	chr22:21520068-21520069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:231)

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
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
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21503200-21503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:21520400-21520600	Enhancers	Gastric	stomach
3	chr22:21520600-21520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr22:21520600-21520800	Flanking Active TSS	Gastric	stomach
5	chr22:21520600-21521000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:21520600-21521000	ZNF genes & repeats	Pancreas	Pancrea
7	chr22:21520800-21521000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:21520800-21521000	ZNF genes & repeats	Esophagus	oesophagus
9	chr22:21520800-21521000	Flanking Bivalent TSS/Enh	Gastric	stomach
10	chr22:21548800-21549200	Enhancers	HepG2	liver
11	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
12	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
18	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
23	chr22:21569800-21590800	Weak transcription	Gastric	stomach
24	chr22:21570200-21570800	Enhancers	HMEC	breast
25	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:21576000-21576200	Enhancers	Spleen	Spleen
30	chr22:21590600-21590800	Enhancers	Stomach Mucosa	stomach
31	chr22:21590600-21591200	Enhancers	Pancreas	Pancrea
32	chr22:21590800-21591000	Enhancers	Gastric	stomach
33	chr22:21590800-21591800	Weak transcription	Stomach Mucosa	stomach
34	chr22:21591000-21591800	Weak transcription	Gastric	stomach
35	chr22:21591200-21591600	Weak transcription	Pancreas	Pancrea
36	chr22:21591600-21592800	Enhancers	Pancreas	Pancrea
37	chr22:21591800-21592000	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:21591800-21592200	Enhancers	Fetal Intestine Large	intestine
39	chr22:21591800-21592200	Enhancers	Fetal Intestine Small	intestine
40	chr22:21591800-21592200	Enhancers	Gastric	stomach
41	chr22:21591800-21592200	Enhancers	Stomach Mucosa	stomach
42	chr22:21591800-21592400	Enhancers	HepG2	liver
43	chr22:21592000-21592200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:21592000-21592200	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr22:21592200-21592400	Enhancers	Duodenum Mucosa	Duodenum
46	chr22:21592400-21592800	Active TSS	Duodenum Mucosa	Duodenum
47	chr22:21598600-21599000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr22:21604600-21605000	Bivalent Enhancer	HepG2	liver
49	chr22:21607400-21608600	Enhancers	HepG2	liver
50	chr22:21607800-21608200	Enhancers	Fetal Intestine Small	intestine

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