Variant report

Variant	esv2763699
Chromosome Location	chr22:21542615-21845355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6151)
CpG islands
(count:2321)
Chromatin interactive
region (count:19)
LncRNA
region (count:50)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:6151 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

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	ARID3A	chr22:21811453-21812088	HepG2	liver:	n/a	n/a
3	ATF1	chr22:21822456-21822596	K562	blood:	n/a	n/a
4	ATF3	chr22:21799163-21799497	K562	blood:	n/a	n/a
5	BACH1	chr22:21810600-21810850	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr22:21643759-21643961	GM12878	blood:	n/a	n/a
7	BATF	chr22:21670784-21671270	GM12878	blood:	n/a	n/a
8	BATF	chr22:21680752-21681052	GM12878	blood:	n/a	n/a
9	BATF	chr22:21668510-21668775	GM12878	blood:	n/a	n/a
10	BATF	chr22:21667975-21668247	GM12878	blood:	n/a	n/a
11	BATF	chr22:21671350-21671638	GM12878	blood:	n/a	n/a
12	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
13	BATF	chr22:21665627-21665835	GM12878	blood:	n/a	n/a
14	BATF	chr22:21667217-21667566	GM12878	blood:	n/a	n/a
15	BATF	chr22:21644369-21644724	GM12878	blood:	n/a	n/a
16	BATF	chr22:21643643-21643852	GM12878	blood:	n/a	n/a
17	BATF	chr22:21666477-21666908	GM12878	blood:	n/a	chr22:21666820-21666830
18	BATF	chr22:21822965-21823191	GM12878	blood:	n/a	n/a
19	BATF	chr22:21680010-21680279	GM12878	blood:	n/a	n/a
20	BATF	chr22:21661486-21661800	GM12878	blood:	n/a	n/a
21	BATF	chr22:21655763-21656117	GM12878	blood:	n/a	n/a
22	BATF	chr22:21754245-21754462	GM12878	blood:	n/a	n/a
23	BATF	chr22:21598960-21599438	GM12878	blood:	n/a	n/a
24	BATF	chr22:21686970-21687232	GM12878	blood:	n/a	n/a
25	BATF	chr22:21664688-21664901	GM12878	blood:	n/a	n/a
26	BATF	chr22:21664502-21664702	GM12878	blood:	n/a	n/a
27	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
28	BATF	chr22:21661897-21662111	GM12878	blood:	n/a	n/a
29	BATF	chr22:21680010-21680280	GM12878	blood:	n/a	n/a
30	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
31	BATF	chr22:21686882-21687165	GM12878	blood:	n/a	n/a
32	BATF	chr22:21596510-21596681	GM12878	blood:	n/a	n/a
33	BATF	chr22:21822372-21822581	GM12878	blood:	n/a	n/a
34	BATF	chr22:21640199-21640520	GM12878	blood:	n/a	n/a
35	BATF	chr22:21662377-21662584	GM12878	blood:	n/a	n/a
36	BATF	chr22:21771592-21771785	GM12878	blood:	n/a	n/a
37	BATF	chr22:21642702-21642952	GM12878	blood:	n/a	n/a
38	BATF	chr22:21598826-21599972	GM12878	blood:	n/a	n/a
39	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
40	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
41	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
42	BATF	chr22:21622260-21622514	GM12878	blood:	n/a	n/a
43	BATF	chr22:21691873-21692088	GM12878	blood:	n/a	n/a
44	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
45	BATF	chr22:21679248-21679454	GM12878	blood:	n/a	n/a
46	BATF	chr22:21629855-21630214	GM12878	blood:	n/a	n/a
47	BATF	chr22:21630913-21631158	GM12878	blood:	n/a	n/a
48	BATF	chr22:21659286-21659493	GM12878	blood:	n/a	n/a
49	BATF	chr22:21633690-21634128	GM12878	blood:	n/a	n/a
50	BATF	chr22:21659324-21659520	GM12878	blood:	n/a	n/a

(count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21714051-21714101	NT2-D1	testis:	n/a
2	chr22:21822779-21822829	Hepatocyte	liver:	n/a
3	chr22:21692413-21692463	PANC-1	pancreas:	n/a
4	chr22:21714051-21714101	NT2-D1	testis:	n/a
5	chr22:21822779-21822829	Hepatocyte	liver:	n/a
6	chr22:21692413-21692463	PANC-1	pancreas:	n/a
7	chr22:21710822-21710872	NHDF-neo	bronchial:	n/a
8	chr22:21618908-21618958	A549	lung:	n/a
9	chr22:21822779-21822829	PrEC	prostate:	n/a
10	chr22:21798159-21798209	SKMC	muscle:	n/a
11	chr22:21692413-21692463	RPTEC	kidney:	n/a
12	chr22:21718166-21718216	HUVEC	blood vessel:	n/a
13	chr22:21820215-21820265	HRE	kidney:	n/a
14	chr22:21800832-21800882	SAEC	small airway:	n/a
15	chr22:21621725-21621775	HAEpiC	amniotic membrane:	n/a
16	chr22:21804711-21804761	HMEC	breast:	n/a
17	chr22:21621725-21621775	HCPEpiC	choroid plexus:	n/a
18	chr22:21692413-21692463	PrEC	prostate:	n/a
19	chr22:21714908-21714958	ECC-1	luminal epithelium:	n/a
20	chr22:21715770-21715820	NB4	blood:	n/a
21	chr22:21798794-21798844	RPTEC	kidney:	n/a
22	chr22:21735028-21735078	PrEC	prostate:	n/a
23	chr22:21770855-21770905	U87	brain:	n/a
24	chr22:21714908-21714958	HRPEpiC	eye:	n/a
25	chr22:21772272-21772322	HUVEC	blood vessel:	n/a
26	chr22:21710822-21710872	Hela-S3	cervix:	n/a
27	chr22:21660828-21660878	ECC-1	luminal epithelium:	n/a
28	chr22:21660828-21660878	AG04449	skin:	fetal
29	chr22:21695329-21695379	RPTEC	kidney:	n/a
30	chr22:21710822-21710872	MCF10A-Er-Src	breast:	n/a
31	chr22:21774669-21774719	T-47D	breast:	n/a
32	chr22:21770855-21770905	HCM	heart:	n/a
33	chr22:21621725-21621775	A549	lung:	n/a
34	chr22:21823558-21823608	HIPEpiC	eye:	n/a
35	chr22:21714908-21714958	SK-N-MC	brain:	n/a
36	chr22:21773494-21773544	LNCaP	prostate:	n/a
37	chr22:21770821-21770871	HIPEpiC	eye:	n/a
38	chr22:21664376-21664426	AG10803	skin:	n/a
39	chr22:21822779-21822829	CMK	blood:	n/a
40	chr22:21772272-21772322	RPTEC	kidney:	n/a
41	chr22:21639231-21639281	Hela-S3	cervix:	n/a
42	chr22:21636474-21636524	AG09309	skin:	n/a
43	chr22:21621725-21621775	SKMC	muscle:	n/a
44	chr22:21567227-21567277	NT2-D1	testis:	n/a
45	chr22:21801764-21801814	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:21800832-21800882	Jurkat	blood:	n/a
47	chr22:21800832-21800882	BJ	skin:	n/a
48	chr22:21821976-21822026	GM12891	blood:	n/a
49	chr22:21825384-21825434	Caco-2	colon:	n/a
50	chr22:21770855-21770905	HRE	kidney:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
2	chr22:21808392..21810710-chr22:21921341..21923915,2	K562	blood:
3	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
4	chr22:21807608..21809744-chr22:21982806..21985295,2	K562	blood:
5	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
6	chr22:21802032..21802554-chr22:22000750..22001398,2	K562	blood:
7	chr22:21805758..21807437-chr22:21977909..21980793,2	K562	blood:
8	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
9	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
10	chr22:21804862..21806367-chr22:21977646..21980199,2	K562	blood:
11	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
12	chr12:89917592..89920413-chr22:21802852..21804467,2	MCF-7	breast:
13	chr22:21799835..21803948-chr22:22005820..22007869,4	K562	blood:
14	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
15	chr22:21802884..21804534-chr22:21977171..21979118,2	K562	blood:
16	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
17	chr22:21800442..21802407-chr22:21977326..21979370,2	K562	blood:
18	chr22:21801362..21804188-chr22:22036295..22038184,2	K562	blood:
19	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGT2-2	chr22:21660358-21661314	ENSG00000206142
2	lnc-AP000552.1-1	chr22:21668536-21669193	ENSG00000237407
3	lnc-GGT2-2	chr22:21676237-21676616	ENSG00000206142
4	lnc-RIMBP3C-3	chr22:21803801-21805329	NONHSAT083673
5	lnc-GGT2-2	chr22:21676484-21676616	ENSG00000206142
6	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
7	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
8	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
9	lnc-GGT2-2	chr22:21666528-21666589	NONHSAT083653
10	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
11	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
12	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
13	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
14	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
15	lnc-RIMBP3B-1	chr22:21743480-21743780	NONHSAT083665
16	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
17	lnc-RIMBP3B-2	chr22:21726368-21726939	l_2251_chr22:21725710-21727925_testes
18	lnc-GGT2-2	chr22:21660358-21661314	NONHSAT083653
19	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
20	lnc-RIMBP3B-2	chr22:21725711-21725760	l_2251_chr22:21725710-21727925_testes
21	lnc-GGT2-2	chr22:21673559-21673645	NONHSAT083653
22	lnc-GGT2-2	chr22:21675881-21676008	ENSG00000206142
23	lnc-HIC2-1	chr22:21820783-21821265	ENSG00000206140
24	lnc-GGT2-2	chr22:21677085-21677224	ENSG00000206142
25	lnc-GGT2-2	chr22:21666029-21666062	NONHSAT083653
26	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
27	lnc-RIMBP3B-2	chr22:21727743-21727925	l_2251_chr22:21725710-21727925_testes
28	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
29	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
30	lnc-GGT2-2	chr22:21679120-21679331	ENSG00000206142
31	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
32	lnc-GGT2-2	chr22:21679120-21679226	ENSG00000206142
33	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
34	lnc-GGT2-2	chr22:21676592-21676616	NONHSAT083653
35	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
36	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
37	lnc-GGT2-2	chr22:21677085-21677166	NONHSAT083653
38	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
39	lnc-GGT2-2	chr22:21677152-21677166	ENSG00000206142
40	lnc-AP000552.1-1	chr22:21667209-21667325	ENSG00000237407
41	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
42	lnc-GGT2-2	chr22:21676430-21676616	ENSG00000206142
43	lnc-GGT2-2	chr22:21668589-21668654	NONHSAT083653
44	lnc-GGT2-2	chr22:21655286-21655713	NONHSAT083653
45	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
46	lnc-GGT2-2	chr22:21677085-21677273	ENSG00000206142
47	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
48	lnc-GGT2-2	chr22:21677085-21677147	ENSG00000206142
49	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
50	lnc-GGT2-2	chr22:21655286-21655713	ENSG00000206142

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HIC2	hsa-miR-30b-5p	chr22:21803819-21803840
2	HIC2	hsa-miR-24-3p	chr22:21801714-21801720
3	HIC2	hsa-miR-30b-5p	chr22:21803833-21803840

Variant related genes	Relation type
ENSG00000252020	TF binding region
BCRP6	TF binding region
ENSG00000226885	TF binding region
ENSG00000226534	TF binding region
ENSG00000237407	TF binding region
PPP1R26P5	TF binding region
TMEM191C	TF binding region
ENSG00000252314	TF binding region
GGT2	TF binding region
RN7SKP63	TF binding region
RIMBP3B	TF binding region
ENSG00000252402	TF binding region
HIC2	TF binding region
FAM230C	TF binding region
POM121L8P	TF binding region
PI4KAP2	TF binding region
ENSG00000252020	CpG island
BCRP6	CpG island
ENSG00000226885	CpG island
ENSG00000226534	CpG island
ENSG00000237407	CpG island
PPP1R26P5	CpG island
TMEM191C	CpG island
ENSG00000252314	CpG island
GGT2	CpG island
RN7SKP63	CpG island
RIMBP3B	CpG island
ENSG00000252402	CpG island
HIC2	CpG island
FAM230C	CpG island
POM121L8P	CpG island
PI4KAP2	CpG island
ENSG00000185651	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000139323	chromatin interactions
ENSG00000257594	chromatin interactions
ENSG00000259075	chromatin interactions
ENSG00000270344	chromatin interactions
ENSG00000207751	chromatin interactions

Extended variants
information (count: 3402 )
Associated
traits (count: 237 )

Variant overlapped rSNPs/rCNVs (count:3402 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376023262	chr22:21548847-21548848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539026951	chr22:21548855-21548856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556144556	chr22:21548896-21548897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9625840	chr22:21548911-21548912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2329677	chr22:21549008-21549009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4051747	chr22:21549028-21549029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576130	chr22:21549055-21549056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62240940	chr22:21549077-21549078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555594085	chr22:21549121-21549122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62240941	chr22:21549131-21549132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373484895	chr22:21557230-21557231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377540303	chr22:21557241-21557242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544114783	chr22:21557266-21557267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201558515	chr22:21557268-21557269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529637628	chr22:21557278-21557279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75885650	chr22:21557287-21557288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2543392	chr22:21557288-21557289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79638301	chr22:21557299-21557300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374393972	chr22:21557300-21557301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112559344	chr22:21557316-21557317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141850698	chr22:21557348-21557349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200775095	chr22:21557349-21557350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528170026	chr22:21557383-21557384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112975494	chr22:21557448-21557449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368713332	chr22:21557470-21557471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372932442	chr22:21557508-21557509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201898062	chr22:21557626-21557627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370476211	chr22:21557641-21557642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375052377	chr22:21557652-21557653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200749114	chr22:21557671-21557672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369044307	chr22:21557676-21557677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551482741	chr22:21557732-21557733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571338070	chr22:21557748-21557749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368432962	chr22:21557750-21557751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371302796	chr22:21557758-21557759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537214413	chr22:21557787-21557788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200170290	chr22:21558100-21558101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201116619	chr22:21558105-21558106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202186364	chr22:21558160-21558161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376573313	chr22:21558242-21558243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200230917	chr22:21558428-21558429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62240953	chr22:21558437-21558438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567175093	chr22:21558448-21558449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536148148	chr22:21558461-21558462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62240954	chr22:21558486-21558487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562821601	chr22:21558489-21558490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62240955	chr22:21558498-21558499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199937638	chr22:21558524-21558525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375849458	chr22:21558557-21558558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369855411	chr22:21558575-21558576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:237)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Asthma	21956041	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21548800-21549200	Enhancers	HepG2	liver
2	chr22:21557200-21557400	Enhancers	Fetal Muscle Trunk	muscle
3	chr22:21557400-21558400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:21558400-21558600	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:21558600-21559000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr22:21558600-21559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:21558600-21559000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:21558600-21559000	Enhancers	Fetal Muscle Leg	muscle
9	chr22:21559000-21560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:21559000-21560200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:21560200-21560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:21560400-21560600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr22:21566000-21569400	Weak transcription	Right Atrium	heart
14	chr22:21569800-21590800	Weak transcription	Gastric	stomach
15	chr22:21570200-21570800	Enhancers	HMEC	breast
16	chr22:21570400-21570600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:21570400-21570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:21570400-21570800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:21576000-21576200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:21576000-21576200	Enhancers	Spleen	Spleen
21	chr22:21590600-21590800	Enhancers	Stomach Mucosa	stomach
22	chr22:21590600-21591200	Enhancers	Pancreas	Pancrea
23	chr22:21590800-21591000	Enhancers	Gastric	stomach
24	chr22:21590800-21591800	Weak transcription	Stomach Mucosa	stomach
25	chr22:21591000-21591800	Weak transcription	Gastric	stomach
26	chr22:21591200-21591600	Weak transcription	Pancreas	Pancrea
27	chr22:21591600-21592800	Enhancers	Pancreas	Pancrea
28	chr22:21591800-21592000	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:21591800-21592200	Enhancers	Fetal Intestine Large	intestine
30	chr22:21591800-21592200	Enhancers	Fetal Intestine Small	intestine
31	chr22:21591800-21592200	Enhancers	Gastric	stomach
32	chr22:21591800-21592200	Enhancers	Stomach Mucosa	stomach
33	chr22:21591800-21592400	Enhancers	HepG2	liver
34	chr22:21592000-21592200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:21592000-21592200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:21592200-21592400	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:21592400-21592800	Active TSS	Duodenum Mucosa	Duodenum
38	chr22:21598600-21599000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:21604600-21605000	Bivalent Enhancer	HepG2	liver
40	chr22:21607400-21608600	Enhancers	HepG2	liver
41	chr22:21607800-21608200	Enhancers	Fetal Intestine Small	intestine
42	chr22:21607800-21608600	Enhancers	Fetal Intestine Large	intestine
43	chr22:21608400-21608600	Enhancers	HSMMtube	muscle
44	chr22:21608600-21609800	Weak transcription	Fetal Intestine Large	intestine
45	chr22:21608600-21609800	Weak transcription	HepG2	liver
46	chr22:21608600-21610400	Weak transcription	HSMMtube	muscle
47	chr22:21609800-21610200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:21609800-21610600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:21609800-21610600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:21609800-21610600	Enhancers	Hela-S3	cervix

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