Variant report

Variant	nsv1056553
Chromosome Location	chr22:34116979-34286191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1140)
CpG islands
(count:61)
Chromatin interactive
region (count:47)
LncRNA
region (count:88)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1140 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:34219541-34219836	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:34260707-34261720	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:34263027-34263505	HepG2	liver:	n/a	n/a
4	ATF2	chr22:34237683-34238915	GM12878	blood:	n/a	n/a
5	ATF2	chr22:34267904-34268303	GM12878	blood:	n/a	n/a
6	ATF2	chr22:34267833-34268333	GM12878	blood:	n/a	n/a
7	ATF2	chr22:34183601-34184137	GM12878	blood:	n/a	n/a
8	ATF2	chr22:34237716-34238353	GM12878	blood:	n/a	n/a
9	ATF2	chr22:34185755-34186363	GM12878	blood:	n/a	n/a
10	ATF2	chr22:34181226-34181686	GM12878	blood:	n/a	n/a
11	ATF2	chr22:34183459-34184387	GM12878	blood:	n/a	n/a
12	ATF2	chr22:34185841-34186312	GM12878	blood:	n/a	n/a
13	BACH1	chr22:34135101-34135251	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr22:34225564-34225840	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr22:34267545-34267589	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr22:34221773-34221807	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr22:34244328-34244642	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr22:34183589-34183875	GM12878	blood:	n/a	n/a
19	BATF	chr22:34244253-34244653	GM12878	blood:	n/a	chr22:34244450-34244461
20	BATF	chr22:34279594-34279893	GM12878	blood:	n/a	chr22:34279726-34279737
21	BATF	chr22:34185847-34186124	GM12878	blood:	n/a	n/a
22	BATF	chr22:34279533-34279901	GM12878	blood:	n/a	chr22:34279726-34279737
23	BATF	chr22:34237726-34237991	GM12878	blood:	n/a	n/a
24	BATF	chr22:34154766-34154993	GM12878	blood:	n/a	n/a
25	BATF	chr22:34185838-34186311	GM12878	blood:	n/a	n/a
26	BATF	chr22:34184057-34184349	GM12878	blood:	n/a	n/a
27	BCL11A	chr22:34279585-34279869	GM12878	blood:	n/a	n/a
28	BCL11A	chr22:34279521-34279833	GM12878	blood:	n/a	n/a
29	BCL11A	chr22:34183569-34183918	GM12878	blood:	n/a	n/a
30	BCL3	chr22:34279570-34279880	GM12878	blood:	n/a	n/a
31	BCL3	chr22:34185878-34186387	GM12878	blood:	n/a	n/a
32	BCL3	chr22:34153825-34154068	GM12878	blood:	n/a	n/a
33	BCL3	chr22:34139772-34140140	GM12878	blood:	n/a	n/a
34	BCLAF1	chr22:34238364-34238878	GM12878	blood:	n/a	n/a
35	BCLAF1	chr22:34183553-34184056	GM12878	blood:	n/a	n/a
36	BCLAF1	chr22:34285684-34286171	GM12878	blood:	n/a	n/a
37	BCLAF1	chr22:34181218-34181676	GM12878	blood:	n/a	n/a
38	BCLAF1	chr22:34183601-34183918	GM12878	blood:	n/a	n/a
39	BCLAF1	chr22:34185839-34186424	GM12878	blood:	n/a	n/a
40	BCLAF1	chr22:34237755-34238277	GM12878	blood:	n/a	n/a
41	BHLHE40	chr22:34119934-34120194	GM12878	blood:	n/a	n/a
42	BHLHE40	chr22:34185856-34186187	GM12878	blood:	n/a	n/a
43	BHLHE40	chr22:34168931-34169192	GM12878	blood:	n/a	n/a
44	BHLHE40	chr22:34202110-34202534	GM12878	blood:	n/a	n/a
45	CEBPB	chr22:34181187-34181655	IMR90	lung:	n/a	n/a
46	CEBPB	chr22:34260635-34261548	HepG2	liver:	n/a	chr22:34260820-34260831
47	CEBPB	chr22:34235773-34235879	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr22:34257657-34257790	K562	blood:	n/a	chr22:34257719-34257730
49	CEBPB	chr22:34160073-34160312	H1-hESC	embryonic stem cell:	n/a	chr22:34160214-34160225 chr22:34160212-34160223
50	CEBPB	chr22:34260670-34260959	HepG2	liver:	n/a	chr22:34260820-34260831

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:34192387-34192437	AG04450	lung:	fetal
2	chr22:34192387-34192437	AoSMC	blood vessel:	n/a
3	chr22:34192387-34192437	AG10803	skin:	n/a
4	chr22:34192387-34192437	LNCaP	prostate:	n/a
5	chr22:34192387-34192437	HL-60	blood:	n/a
6	chr22:34192387-34192437	BJ	skin:	n/a
7	chr22:34192387-34192437	HCT-116	colon:	n/a
8	chr22:34192387-34192437	GM19239	blood:	n/a
9	chr22:34192387-34192437	HAEpiC	amniotic membrane:	n/a
10	chr22:34192387-34192437	HRE	kidney:	n/a
11	chr22:34192387-34192437	H1-hESC	embryonic stem cell:	embryo
12	chr22:34192387-34192437	ECC-1	luminal epithelium:	n/a
13	chr22:34192387-34192437	HNPCEpiC	eye:	n/a
14	chr22:34192387-34192437	A549	lung:	n/a
15	chr22:34192387-34192437	HCM	heart:	n/a
16	chr22:34192387-34192437	ProgFib	skin:	n/a
17	chr22:34192387-34192437	AG04449	skin:	fetal
18	chr22:34192387-34192437	SK-N-SH_RA	brain:	n/a
19	chr22:34192387-34192437	HepG2	liver:	n/a
20	chr22:34192387-34192437	AG09319	gingival:	n/a
21	chr22:34192387-34192437	Caco-2	colon:	n/a
22	chr22:34192387-34192437	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:34192387-34192437	HIPEpiC	eye:	n/a
24	chr22:34192387-34192437	GM12891	blood:	n/a
25	chr22:34192387-34192437	HEK293	kidney:	embryo
26	chr22:34192387-34192437	PFSK-1	brain:	n/a
27	chr22:34192387-34192437	PrEC	prostate:	n/a
28	chr22:34192387-34192437	MCF-7	breast:	n/a
29	chr22:34192387-34192437	CMK	blood:	n/a
30	chr22:34192387-34192437	Hela-S3	cervix:	n/a
31	chr22:34192387-34192437	NHDF-neo	bronchial:	n/a
32	chr22:34192387-34192437	HEEpiC	esophagus:	n/a
33	chr22:34192387-34192437	MCF10A-Er-Src	breast:	n/a
34	chr22:34192387-34192437	RPTEC	kidney:	n/a
35	chr22:34192387-34192437	NT2-D1	testis:	n/a
36	chr22:34192387-34192437	T-47D	breast:	n/a
37	chr22:34192387-34192437	SK-N-MC	brain:	n/a
38	chr22:34192387-34192437	HMEC	breast:	n/a
39	chr22:34192387-34192437	GM12878	blood:	n/a
40	chr22:34192387-34192437	GM12892	blood:	n/a
41	chr22:34192387-34192437	IMR90	lung:	fetal
42	chr22:34192387-34192437	HCPEpiC	choroid plexus:	n/a
43	chr22:34192387-34192437	K562	blood:	n/a
44	chr22:34192387-34192437	ovcar-3	ovarian:	n/a
45	chr22:34192387-34192437	BE2_C	brain:	n/a
46	chr22:34192387-34192437	HRPEpiC	eye:	n/a
47	chr22:34192387-34192437	SKMC	muscle:	n/a
48	chr22:34192387-34192437	SK-N-SH	brain:	n/a
49	chr22:34192387-34192437	U87	brain:	n/a
50	chr22:34192387-34192437	HCF	heart:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:34248231..34249994-chr22:34261049..34263874,2	MCF-7	breast:
2	chr22:34279207..34280839-chr22:34295025..34297477,2	MCF-7	breast:
3	chr22:34259639..34261419-chr22:34267116..34269181,2	MCF-7	breast:
4	chr22:34255181..34259842-chr22:34260995..34265736,9	MCF-7	breast:
5	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
6	chr22:34261283..34264105-chr22:34285527..34288136,2	MCF-7	breast:
7	chr22:34264153..34267717-chr22:34273021..34274940,3	MCF-7	breast:
8	chr22:34243203..34243910-chr9:5087187..5087998,2	MCF-7	breast:
9	chr22:34248231..34249994-chr22:34261049..34263874,2	MCF-7	breast:
10	chr22:34153944..34154522-chr22:34255921..34256610,2	MCF-7	breast:
11	chr22:34264153..34267717-chr22:34273021..34274940,3	MCF-7	breast:
12	chr22:34270457..34273179-chr22:34316799..34318425,2	MCF-7	breast:
13	chr22:34255666..34258346-chr22:34316396..34318049,2	MCF-7	breast:
14	chr22:34143232..34145432-chr22:34315745..34318657,2	MCF-7	breast:
15	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:
16	chr22:34247996..34248570-chr22:34261032..34261815,2	MCF-7	breast:
17	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:
18	chr22:34277917..34281628-chr22:34285820..34288664,3	MCF-7	breast:
19	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:
20	chr22:34277917..34281628-chr22:34285820..34288664,3	MCF-7	breast:
21	chr22:34172664..34173221-chr22:34313368..34314036,2	MCF-7	breast:
22	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:
23	chr22:34247616..34248584-chr22:34315645..34316533,2	MCF-7	breast:
24	chr22:34259639..34261419-chr22:34267116..34269181,2	MCF-7	breast:
25	chr22:34261522..34263199-chr22:34316447..34319258,2	MCF-7	breast:
26	chr22:34261283..34264105-chr22:34285527..34288136,2	MCF-7	breast:
27	chr22:34270428..34272649-chr22:34273804..34275941,2	MCF-7	breast:
28	chr22:34269817..34272444-chr22:34314882..34316654,2	MCF-7	breast:
29	chr22:34247996..34248570-chr22:34261032..34261815,2	MCF-7	breast:
30	chr22:34248614..34251924-chr22:34259957..34262591,3	MCF-7	breast:
31	chr22:34248240..34252170-chr22:34315347..34319641,4	MCF-7	breast:
32	chr22:34181411..34183196-chr22:34314966..34317332,2	MCF-7	breast:
33	chr22:34265653..34267240-chr22:34270322..34272194,2	MCF-7	breast:
34	chr22:34276961..34279522-chr22:34313897..34317110,3	MCF-7	breast:
35	chr22:34255630..34257426-chr22:34307549..34309607,2	MCF-7	breast:
36	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:
37	chr22:34260736..34263686-chr22:34313890..34318281,7	MCF-7	breast:
38	chr22:34248614..34251924-chr22:34259957..34262591,3	MCF-7	breast:
39	chr22:34262180..34264985-chr22:34291444..34294296,2	MCF-7	breast:
40	chr22:34265653..34267240-chr22:34270322..34272194,2	MCF-7	breast:
41	chr22:34245347..34248923-chr22:34315491..34319689,7	MCF-7	breast:
42	chr22:34283913..34285789-chr22:34315526..34317915,2	MCF-7	breast:
43	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
44	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:
45	chr22:34153944..34154522-chr22:34255921..34256610,2	MCF-7	breast:
46	chr22:34246562..34250566-chr22:34253925..34258689,11	MCF-7	breast:
47	chr22:34270428..34272649-chr22:34273804..34275941,2	MCF-7	breast:

(count:88 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-6	chr22:34133550-34133769	ENSG00000224973.1
2	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085014
3	lnc-TIMP3-6	chr22:34122102-34122183	ENSG00000224973.1
4	lnc-TIMP3-6	chr22:34140116-34140315	NONHSAT085014
5	lnc-TIMP3-6	chr22:34142402-34142444	ENSG00000224973.1
6	lnc-TIMP3-6	chr22:34123477-34123574	ENSG00000224973.1
7	lnc-TIMP3-6	chr22:34142402-34142444	NONHSAT085014
8	lnc-TIMP3-6	chr22:34143657-34143811	NONHSAT085011
9	lnc-TIMP3-6	chr22:34140116-34140315	NONHSAT085011
10	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085018
11	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085012
12	lnc-TIMP3-6	chr22:34123477-34123618	NONHSAT085015
13	lnc-TIMP3-6	chr22:34121003-34121087	NONHSAT085014
14	lnc-TIMP3-6	chr22:34146591-34146830	ENSG00000224973.1
15	lnc-TIMP3-6	chr22:34122102-34122183	NONHSAT085015
16	lnc-TIMP3-6	chr22:34140116-34140315	ENSG00000224973.1
17	lnc-TIMP3-6	chr22:34140116-34140315	ENSG00000224973.1
18	lnc-TIMP3-6	chr22:34121003-34121087	NONHSAT085015
19	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085011
20	lnc-TIMP3-6	chr22:34121013-34121087	ENSG00000224973.1
21	lnc-TIMP3-6	chr22:34146591-34146715	NONHSAT085015
22	lnc-TIMP3-6	chr22:34121598-34121742	ENSG00000224973.1
23	lnc-TIMP3-6	chr22:34139122-34139185	ENSG00000224973.1
24	lnc-TIMP3-6	chr22:34121598-34121742	NONHSAT085011
25	lnc-TIMP3-6	chr22:34121598-34121742	NONHSAT085012
26	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085013
27	lnc-TIMP3-6	chr22:34146591-34146803	NONHSAT085012
28	lnc-TIMP3-6	chr22:34121055-34121087	ENSG00000224973.1
29	lnc-TIMP3-6	chr22:34123477-34123618	ENSG00000224973.1
30	lnc-TIMP3-6	chr22:34142402-34142444	NONHSAT085015
31	lnc-TIMP3-6	chr22:34128242-34129671	NONHSAT085011
32	lnc-TIMP3-6	chr22:34142402-34142444	NONHSAT085011
33	lnc-TIMP3-6	chr22:34123477-34123618	NONHSAT085011
34	lnc-TIMP3-6	chr22:34121000-34121087	NONHSAT085013
35	lnc-TIMP3-6	chr22:34122102-34122183	NONHSAT085011
36	lnc-TIMP3-6	chr22:34139996-34140315	ENSG00000224973.1
37	lnc-TIMP3-6	chr22:34123477-34123618	NONHSAT085012
38	lnc-TIMP3-6	chr22:34143657-34143811	ENSG00000224973.1
39	lnc-TIMP3-6	chr22:34146591-34146644	ENSG00000224973.1
40	lnc-TIMP3-6	chr22:34143657-34143811	NONHSAT085018
41	lnc-TIMP3-6	chr22:34121026-34121087	ENSG00000224973.1
42	lnc-TIMP3-6	chr22:34142402-34142444	NONHSAT085012
43	lnc-TIMP3-6	chr22:34142402-34142444	ENSG00000224973.1
44	lnc-TIMP3-6	chr22:34140116-34140315	ENSG00000224973.1
45	lnc-TIMP3-6	chr22:34121598-34121742	NONHSAT085013
46	lnc-TIMP3-6	chr22:34121000-34121087	ENSG00000224973.1
47	lnc-TIMP3-6	chr22:34121058-34121087	ENSG00000224973.1
48	lnc-TIMP3-6	chr22:34121598-34121742	ENSG00000224973.1
49	lnc-TIMP3-6	chr22:34133550-34133769	NONHSAT085015
50	lnc-TIMP3-6	chr22:34128242-34129671	ENSG00000224973.1

No data

Variant related genes	Relation type
LARGE-AS1	TF binding region
LARGE	TF binding region
LARGE-IT1	TF binding region
LARGE-AS1	CpG island
LARGE	CpG island
LARGE-IT1	CpG island
ENSG00000273082	chromatin interactions
ENSG00000133424	chromatin interactions

Extended variants
information (count: 7436 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:7436 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528403886	chr22:34117004-34117005	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117183287	chr22:34117038-34117039	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548058274	chr22:34117056-34117057	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564912822	chr22:34117068-34117069	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568293063	chr22:34117106-34117107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2267272	chr22:34117139-34117140	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2267273	chr22:34117145-34117146	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570461652	chr22:34117167-34117168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539504559	chr22:34117235-34117236	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561006490	chr22:34117271-34117272	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140465824	chr22:34117326-34117327	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74649057	chr22:34117355-34117356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16992866	chr22:34117360-34117361	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2012111	chr22:34117487-34117488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544490525	chr22:34117509-34117510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547893991	chr22:34117540-34117541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567599961	chr22:34117574-34117575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564669382	chr22:34117598-34117599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs16992868	chr22:34117618-34117619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540308453	chr22:34117651-34117652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192482585	chr22:34117665-34117666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529240351	chr22:34117692-34117693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369216199	chr22:34117695-34117696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542153992	chr22:34117705-34117706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568120825	chr22:34117706-34117707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550044886	chr22:34117707-34117708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533631548	chr22:34117718-34117719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184762983	chr22:34117722-34117723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553944382	chr22:34117743-34117744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2267274	chr22:34117778-34117779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs16992874	chr22:34117830-34117831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs5999070	chr22:34117835-34117836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189097528	chr22:34117841-34117842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374888470	chr22:34117843-34117844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546699627	chr22:34117907-34117908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566512230	chr22:34117937-34117938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535448464	chr22:34117956-34117957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555305572	chr22:34117977-34117978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569468452	chr22:34117991-34117992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559253695	chr22:34118049-34118050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538504567	chr22:34118066-34118067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558097875	chr22:34118074-34118075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs239313	chr22:34118081-34118082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142453948	chr22:34118096-34118097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111581740	chr22:34118099-34118100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs171198	chr22:34118137-34118138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542664940	chr22:34118143-34118144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543662418	chr22:34118155-34118156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12172550	chr22:34118174-34118175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368645394	chr22:34118188-34118189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
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	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:3537 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34104200-34118800	Weak transcription	Right Ventricle	heart
2	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:34110800-34118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:34110800-34119800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr22:34110800-34120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:34110800-34122200	Weak transcription	Aorta	Aorta
7	chr22:34111000-34118800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:34111000-34121400	Weak transcription	Ovary	ovary
9	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:34111800-34122000	Weak transcription	Fetal Stomach	stomach
11	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
12	chr22:34112000-34118200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:34112600-34119800	Weak transcription	Left Ventricle	heart
14	chr22:34114600-34119200	Weak transcription	Fetal Heart	heart
15	chr22:34115800-34117000	Enhancers	Pancreas	Pancrea
16	chr22:34115800-34117400	Enhancers	Liver	Liver
17	chr22:34116200-34117000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:34116200-34117000	Enhancers	Gastric	stomach
19	chr22:34116200-34117400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:34116200-34117400	Enhancers	Stomach Mucosa	stomach
21	chr22:34116200-34117400	Enhancers	HepG2	liver
22	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:34116600-34117400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr22:34116800-34122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:34117000-34117200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr22:34117000-34118400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:34117000-34120000	Weak transcription	Gastric	stomach
28	chr22:34117000-34120000	Weak transcription	Pancreas	Pancrea
29	chr22:34117200-34117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:34117200-34117400	Weak transcription	Fetal Brain Female	brain
31	chr22:34117200-34117600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:34117400-34118800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:34117400-34120000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:34117400-34122400	Weak transcription	Liver	Liver
36	chr22:34117600-34118800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:34118200-34118600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:34118400-34118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:34118400-34118800	Weak transcription	Fetal Brain Female	brain
40	chr22:34118400-34120000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:34118400-34121600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:34118400-34121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:34118400-34122400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:34118600-34118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr22:34118600-34119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:34118600-34121600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:34118800-34119000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr22:34118800-34119000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:34118800-34119000	Enhancers	Fetal Brain Female	brain
50	chr22:34118800-34119200	Enhancers	Spleen	Spleen

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