Variant report

Variant	nsv907737
Chromosome Location	chr17:17388167-17411030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:841)
CpG islands
(count:1404)
Chromatin interactive
region (count:65)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:17399649-17399806	HepG2	liver:	n/a	n/a
2	ATF2	chr17:17387871-17388254	GM12878	blood:	n/a	n/a
3	BACH1	chr17:17398256-17398456	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:17398968-17398978	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:17397899-17398047	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:17400377-17400430	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:17397012-17397070	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr17:17387900-17388253	GM12878	blood:	n/a	chr17:17388050-17388059
9	BCL3	chr17:17399191-17400328	A549	lung:	n/a	chr17:17399950-17399963 chr17:17399720-17399733 chr17:17399810-17399823 chr17:17399949-17399962
10	BHLHE40	chr17:17400184-17400385	GM12878	blood:	n/a	chr17:17400331-17400347 chr17:17400309-17400325
11	BHLHE40	chr17:17399896-17399901	K562	blood:	n/a	n/a
12	BRCA1	chr17:17400218-17400383	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr17:17400262-17400288	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr17:17400172-17400311	HepG2	liver:	n/a	n/a
15	BRCA1	chr17:17399659-17399849	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr17:17399313-17400475	K562	blood:	n/a	chr17:17400175-17400184 chr17:17400169-17400178 chr17:17399874-17399883 chr17:17400444-17400453
17	CCNT2	chr17:17398422-17398517	K562	blood:	n/a	n/a
18	CEBPB	chr17:17410749-17411084	K562	blood:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
19	CEBPB	chr17:17410796-17411057	A549	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
20	CEBPB	chr17:17400101-17400384	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr17:17399803-17399828	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr17:17400160-17400354	HepG2	liver:	n/a	n/a
23	CEBPB	chr17:17410766-17411077	HepG2	liver:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
24	CEBPB	chr17:17400184-17400362	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr17:17410775-17411042	IMR90	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
26	CEBPB	chr17:17405716-17405855	IMR90	lung:	n/a	n/a
27	CEBPD	chr17:17399298-17399982	HepG2	liver:	n/a	n/a
28	CEBPD	chr17:17400041-17400328	HepG2	liver:	n/a	n/a
29	CHD1	chr17:17399429-17399673	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr17:17400195-17400366	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr17:17400286-17400295	GM12878	blood:	n/a	n/a
32	CHD2	chr17:17400234-17400377	K562	blood:	n/a	n/a
33	CHD2	chr17:17399492-17400278	HepG2	liver:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
34	CHD2	chr17:17407915-17407918	HepG2	liver:	n/a	n/a
35	CHD2	chr17:17400211-17400382	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr17:17399502-17400435	Hela-S3	cervix:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
37	CHD2	chr17:17399947-17399971	K562	blood:	n/a	n/a
38	CHD2	chr17:17399301-17399310	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr17:17398350-17398604	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr17:17398192-17399020	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr17:17398200-17398756	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr17:17400077-17400495	A549	lung:	n/a	n/a
43	CREB1	chr17:17399197-17400540	HepG2	liver:	n/a	n/a
44	CREB1	chr17:17399507-17400005	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr17:17399371-17400059	A549	lung:	n/a	n/a
46	CREB1	chr17:17399602-17399902	A549	lung:	n/a	n/a
47	CTBP2	chr17:17399186-17400060	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:17400220-17400370	GM12872	blood:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
49	CTCF	chr17:17404420-17404570	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr17:17400200-17400350	HEEpiC	esophagus:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17399726-17399776	PFSK-1	brain:	n/a
2	chr17:17399726-17399776	PFSK-1	brain:	n/a
3	chr17:17399718-17399768	HEK293	kidney:	embryo
4	chr17:17403227-17403277	MCF10A-Er-Src	breast:	n/a
5	chr17:17400632-17400682	HCT-116	colon:	n/a
6	chr17:17400111-17400161	HCF	heart:	n/a
7	chr17:17400632-17400682	U87	brain:	n/a
8	chr17:17396436-17396486	NB4	blood:	n/a
9	chr17:17399405-17399455	PrEC	prostate:	n/a
10	chr17:17403227-17403277	HRPEpiC	eye:	n/a
11	chr17:17397972-17398022	HPAEpiC	pulmonary alveolar:	n/a
12	chr17:17399802-17399852	HRE	kidney:	n/a
13	chr17:17399405-17399455	BJ	skin:	n/a
14	chr17:17407880-17407930	LNCaP	prostate:	n/a
15	chr17:17399667-17399717	HCM	heart:	n/a
16	chr17:17400632-17400682	ProgFib	skin:	n/a
17	chr17:17399405-17399455	SK-N-SH	brain:	n/a
18	chr17:17400340-17400390	NH-A	brain:	n/a
19	chr17:17407880-17407930	CMK	blood:	n/a
20	chr17:17390793-17390843	MCF-7	breast:	n/a
21	chr17:17407880-17407930	HCPEpiC	choroid plexus:	n/a
22	chr17:17407880-17407930	HMEC	breast:	n/a
23	chr17:17399667-17399717	CMK	blood:	n/a
24	chr17:17399795-17399845	GM19239	blood:	n/a
25	chr17:17389971-17390021	NB4	blood:	n/a
26	chr17:17397972-17398022	GM12892	blood:	n/a
27	chr17:17399667-17399717	A549	lung:	n/a
28	chr17:17389971-17390021	HCPEpiC	choroid plexus:	n/a
29	chr17:17400340-17400390	HEEpiC	esophagus:	n/a
30	chr17:17399941-17399991	HMEC	breast:	n/a
31	chr17:17403227-17403277	BJ	skin:	n/a
32	chr17:17399941-17399991	AG10803	skin:	n/a
33	chr17:17394732-17394782	LNCaP	prostate:	n/a
34	chr17:17390793-17390843	HRE	kidney:	n/a
35	chr17:17399700-17399750	AoSMC	blood vessel:	n/a
36	chr17:17399941-17399991	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:17399941-17399991	K562	blood:	n/a
38	chr17:17399795-17399845	HUVEC	blood vessel:	n/a
39	chr17:17399795-17399845	HRPEpiC	eye:	n/a
40	chr17:17399718-17399768	MCF10A-Er-Src	breast:	n/a
41	chr17:17396436-17396486	Hela-S3	cervix:	n/a
42	chr17:17399802-17399852	SKMC	muscle:	n/a
43	chr17:17389971-17390021	AoSMC	blood vessel:	n/a
44	chr17:17398962-17399012	HEEpiC	esophagus:	n/a
45	chr17:17400632-17400682	SAEC	small airway:	n/a
46	chr17:17389971-17390021	LNCaP	prostate:	n/a
47	chr17:17399795-17399845	AG09319	gingival:	n/a
48	chr17:17403227-17403277	PANC-1	pancreas:	n/a
49	chr17:17400632-17400682	SK-N-SH	brain:	n/a
50	chr17:17399795-17399845	HNPCEpiC	eye:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:17291335..17291987-chr17:17399782..17400706,3	MCF-7	breast:
2	chr17:17395467..17398151-chr8:145688919..145691543,2	MCF-7	breast:
3	chr17:17258335..17259042-chr17:17404049..17404955,3	MCF-7	breast:
4	chr17:17384547..17387384-chr17:17390768..17392757,2	MCF-7	breast:
5	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
6	chr17:17380262..17386605-chr17:17392311..17397391,9	K562	blood:
7	chr17:17379465..17384046-chr17:17386067..17389156,5	MCF-7	breast:
8	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
9	chr17:17400210..17400772-chr17:17473219..17473753,2	MCF-7	breast:
10	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
11	chr17:17389215..17391542-chr17:17392709..17394489,2	K562	blood:
12	chr17:17396999..17399572-chr17:17585740..17587599,2	MCF-7	breast:
13	chr17:17399780..17400738-chr17:17471636..17473808,15	MCF-7	breast:
14	chr17:17399759..17400695-chr17:17544845..17545554,2	K562	blood:
15	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
16	chr17:17400239..17400807-chr17:17472787..17473779,2	K562	blood:
17	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
18	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
19	chr17:17349182..17349868-chr17:17399782..17400771,2	MCF-7	breast:
20	chr17:17389044..17391097-chr17:17393981..17396776,2	MCF-7	breast:
21	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
22	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
23	chr17:17399330..17400214-chr6:31509455..31510221,2	Hela-S3	cervix:
24	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
25	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:
26	chr17:17404221..17407416-chr17:17410177..17412032,3	K562	blood:
27	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:
28	chr17:17377592..17379713-chr17:17402478..17404778,3	K562	blood:
29	chr17:17399769..17400801-chr17:17471936..17472657,4	MCF-7	breast:
30	chr17:17400144..17400698-chr17:17545089..17545735,2	MCF-7	breast:
31	chr17:17384082..17386692-chr17:17387080..17388772,2	MCF-7	breast:
32	chr17:17394182..17397253-chr17:17397708..17401018,3	K562	blood:
33	chr17:17389044..17391097-chr17:17393981..17396776,2	MCF-7	breast:
34	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
35	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
36	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
37	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
38	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
39	chr17:17398857..17400412-chr17:17494167..17496293,2	K562	blood:
40	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
41	chr17:17254341..17256825-chr17:17400091..17402826,3	MCF-7	breast:
42	chr17:17394585..17397525-chr17:17493940..17496244,2	K562	blood:
43	chr17:17389683..17393183-chr17:17396173..17400344,4	K562	blood:
44	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
45	chr17:17379097..17381966-chr17:17388003..17390791,3	MCF-7	breast:
46	chr17:17262294..17265144-chr17:17396153..17398349,2	MCF-7	breast:
47	chr17:17379155..17381711-chr17:17395124..17397164,2	MCF-7	breast:
48	chr17:17393460..17395575-chr17:17398622..17401130,3	K562	blood:
49	chr17:17389215..17391542-chr17:17392709..17394489,2	K562	blood:
50	chr17:17398131..17401509-chr17:17403115..17406009,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED9-1	chr17:17410665-17410931	ENSG00000265511.1

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RASD1	hsa-miR-375	chr17:17397855-17397848
2	RASD1	hsa-miR-375	chr17:17397849-17397871
3	RASD1	hsa-miR-375	chr17:17398413-17398435
4	PEMT	hsa-miR-124-3p	chr17:17408980-17408974
5	PEMT	hsa-miR-124-3p	chr17:17408974-17408994

Variant related genes	Relation type
ENSG00000265511	TF binding region
RASD1	TF binding region
PEMT	TF binding region
ENSG00000265511	CpG island
RASD1	CpG island
PEMT	CpG island
ENSG00000187954	chromatin interactions
ENSG00000167702	chromatin interactions
ENSG00000141026	chromatin interactions
ENSG00000264187	chromatin interactions
ENSG00000254578	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000265511	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000108551	chromatin interactions
ENSG00000154803	chromatin interactions
ENSG00000133027	chromatin interactions
ENSG00000264666	chromatin interactions

Extended variants
information (count: 993 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8066002	chr17:17388167-17388168	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73294315	chr17:17388182-17388183	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575533870	chr17:17388197-17388198	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544356712	chr17:17388201-17388202	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568076144	chr17:17388214-17388215	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141076873	chr17:17388216-17388217	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572609144	chr17:17388244-17388245	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200422156	chr17:17388374-17388375	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527286877	chr17:17388438-17388439	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144903278	chr17:17388476-17388477	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77532914	chr17:17388512-17388513	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547324632	chr17:17388520-17388521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539925647	chr17:17388551-17388552	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375146387	chr17:17388560-17388561	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201356998	chr17:17388584-17388585	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560212148	chr17:17388593-17388594	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182126582	chr17:17388594-17388595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549004964	chr17:17388595-17388596	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569135168	chr17:17388618-17388619	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186837282	chr17:17388692-17388693	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71364026	chr17:17388693-17388694	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551747279	chr17:17388702-17388703	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571332367	chr17:17388726-17388727	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34878405	chr17:17388814-17388815	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534026326	chr17:17388845-17388846	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2141116	chr17:17388860-17388861	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566977424	chr17:17388877-17388878	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78001279	chr17:17388891-17388892	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555350010	chr17:17388899-17388900	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74494704	chr17:17388939-17388940	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538144317	chr17:17388979-17388980	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375783854	chr17:17389067-17389068	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558054531	chr17:17389097-17389098	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76949841	chr17:17389153-17389154	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540845591	chr17:17389226-17389227	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559948147	chr17:17389241-17389242	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77235408	chr17:17389242-17389243	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151035657	chr17:17389252-17389253	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112557175	chr17:17389310-17389311	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369041672	chr17:17389321-17389322	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs66759916	chr17:17389372-17389373	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397687440	chr17:17389382-17389383	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542786380	chr17:17389422-17389423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556414201	chr17:17389437-17389438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34969993	chr17:17389439-17389440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562465810	chr17:17389498-17389499	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531363392	chr17:17389532-17389533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551685421	chr17:17389533-17389534	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565200264	chr17:17389535-17389536	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576674288	chr17:17389562-17389563	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:162)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1530 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17381200-17391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17381200-17394200	Weak transcription	Ovary	ovary
3	chr17:17381200-17394400	Weak transcription	Aorta	Aorta
4	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:17381400-17388800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:17381400-17389400	Genic enhancers	Fetal Thymus	thymus
8	chr17:17381400-17392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:17381400-17394400	Weak transcription	Colonic Mucosa	Colon
10	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:17381600-17388800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:17381600-17394800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:17381800-17388600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:17381800-17389800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:17381800-17391000	Weak transcription	Fetal Kidney	kidney
16	chr17:17381800-17391000	Weak transcription	NHDF-Ad	bronchial
17	chr17:17381800-17393800	Weak transcription	Fetal Lung	lung
18	chr17:17381800-17396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:17381800-17397200	Weak transcription	NH-A	brain
20	chr17:17382000-17390800	Weak transcription	Brain Substantia Nigra	brain
21	chr17:17382000-17391000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:17382000-17391000	Weak transcription	Placenta	Placenta
23	chr17:17382000-17391000	Weak transcription	Osteobl	bone
24	chr17:17382400-17388200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr17:17382400-17388800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:17382400-17396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:17382600-17388400	Weak transcription	Fetal Brain Female	brain
28	chr17:17382600-17390800	Weak transcription	NHLF	lung
29	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
30	chr17:17383200-17390800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:17383600-17389600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr17:17383600-17391000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:17384200-17388800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:17384200-17390600	Weak transcription	Adipose Nuclei	Adipose
36	chr17:17384200-17391000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr17:17384400-17388800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:17384400-17391000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:17384400-17391000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr17:17384400-17392400	Weak transcription	Fetal Brain Male	brain
41	chr17:17384600-17388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:17384600-17391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17384600-17391000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:17384600-17391000	Weak transcription	NHEK	skin
45	chr17:17384600-17392800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:17384600-17393600	Weak transcription	Lung	lung
47	chr17:17384600-17394400	Weak transcription	Pancreas	Pancrea
48	chr17:17384600-17396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:17384800-17389800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:17385000-17389200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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