Variant report

Variant	nsv907734
Chromosome Location	chr17:17381764-17425858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1081)
CpG islands
(count:1588)
Chromatin interactive
region (count:94)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

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	chr17:17398968-17398978	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:17397012-17397070	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:17398256-17398456	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:17397899-17398047	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:17400377-17400430	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	chr17:17412516-17412612	K562	blood:	n/a	n/a
12	BHLHE40	chr17:17415310-17415513	K562	blood:	n/a	n/a
13	BHLHE40	chr17:17399896-17399901	K562	blood:	n/a	n/a
14	BRCA1	chr17:17399659-17399849	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr17:17400262-17400288	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr17:17400172-17400311	HepG2	liver:	n/a	n/a
17	BRCA1	chr17:17400218-17400383	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr17:17398422-17398517	K562	blood:	n/a	n/a
19	CCNT2	chr17:17399313-17400475	K562	blood:	n/a	chr17:17400175-17400184 chr17:17400169-17400178 chr17:17399874-17399883 chr17:17400444-17400453
20	CEBPB	chr17:17410766-17411077	HepG2	liver:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
21	CEBPB	chr17:17418817-17419159	IMR90	lung:	n/a	chr17:17418961-17418972 chr17:17418961-17418974 chr17:17418960-17418977 chr17:17418961-17418972
22	CEBPB	chr17:17410775-17411042	IMR90	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
23	CEBPB	chr17:17415261-17415620	IMR90	lung:	n/a	n/a
24	CEBPB	chr17:17400160-17400354	HepG2	liver:	n/a	n/a
25	CEBPB	chr17:17405716-17405855	IMR90	lung:	n/a	n/a
26	CEBPB	chr17:17400101-17400384	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr17:17418912-17419112	H1-hESC	embryonic stem cell:	n/a	chr17:17418961-17418972 chr17:17418961-17418974 chr17:17418960-17418977 chr17:17418961-17418972
28	CEBPB	chr17:17382552-17382834	HepG2	liver:	n/a	n/a
29	CEBPB	chr17:17410796-17411057	A549	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
30	CEBPB	chr17:17400184-17400362	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr17:17399803-17399828	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr17:17418611-17418647	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr17:17410749-17411084	K562	blood:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
34	CEBPD	chr17:17400041-17400328	HepG2	liver:	n/a	n/a
35	CEBPD	chr17:17399298-17399982	HepG2	liver:	n/a	n/a
36	CHD1	chr17:17400195-17400366	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr17:17399429-17399673	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr17:17415120-17415691	IMR90	lung:	n/a	n/a
39	CHD1	chr17:17417622-17417643	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr17:17400234-17400377	K562	blood:	n/a	n/a
41	CHD2	chr17:17399301-17399310	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr17:17400286-17400295	GM12878	blood:	n/a	n/a
43	CHD2	chr17:17398350-17398604	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr17:17407915-17407918	HepG2	liver:	n/a	n/a
45	CHD2	chr17:17399502-17400435	Hela-S3	cervix:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
46	CHD2	chr17:17400211-17400382	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr17:17418476-17418657	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr17:17399947-17399971	K562	blood:	n/a	n/a
49	CHD2	chr17:17399492-17400278	HepG2	liver:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
50	CREB1	chr17:17400077-17400495	A549	lung:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17400632-17400682	NB4	blood:	n/a
2	chr17:17418691-17418741	IMR90	lung:	fetal
3	chr17:17400632-17400682	NB4	blood:	n/a
4	chr17:17418691-17418741	IMR90	lung:	fetal
5	chr17:17398962-17399012	ECC-1	luminal epithelium:	n/a
6	chr17:17400340-17400390	Hela-S3	cervix:	n/a
7	chr17:17399941-17399991	A549	lung:	n/a
8	chr17:17399405-17399455	ProgFib	skin:	n/a
9	chr17:17399795-17399845	GM12878	blood:	n/a
10	chr17:17400111-17400161	BJ	skin:	n/a
11	chr17:17399700-17399750	AG04449	skin:	fetal
12	chr17:17398264-17398314	CMK	blood:	n/a
13	chr17:17399941-17399991	HCF	heart:	n/a
14	chr17:17409003-17409053	BE2_C	brain:	n/a
15	chr17:17399729-17399779	NB4	blood:	n/a
16	chr17:17418691-17418741	GM12878	blood:	n/a
17	chr17:17399718-17399768	HRPEpiC	eye:	n/a
18	chr17:17383910-17383960	HRCEpiC	kidney:	n/a
19	chr17:17389863-17389913	Caco-2	colon:	n/a
20	chr17:17399795-17399845	AG09309	skin:	n/a
21	chr17:17399795-17399845	HUVEC	blood vessel:	n/a
22	chr17:17396436-17396486	AG09319	gingival:	n/a
23	chr17:17399405-17399455	LNCaP	prostate:	n/a
24	chr17:17399795-17399845	NHDF-neo	bronchial:	n/a
25	chr17:17390793-17390843	HCF	heart:	n/a
26	chr17:17399700-17399750	SK-N-SH	brain:	n/a
27	chr17:17400340-17400390	HCF	heart:	n/a
28	chr17:17389863-17389913	LNCaP	prostate:	n/a
29	chr17:17397972-17398022	NHBE	bronchial:	n/a
30	chr17:17399405-17399455	Caco-2	colon:	n/a
31	chr17:17399941-17399991	T-47D	breast:	n/a
32	chr17:17389863-17389913	U87	brain:	n/a
33	chr17:17389863-17389913	HMEC	breast:	n/a
34	chr17:17390793-17390843	HCM	heart:	n/a
35	chr17:17383910-17383960	PrEC	prostate:	n/a
36	chr17:17400632-17400682	HAEpiC	amniotic membrane:	n/a
37	chr17:17399405-17399455	HAEpiC	amniotic membrane:	n/a
38	chr17:17399667-17399717	HUVEC	blood vessel:	n/a
39	chr17:17390793-17390843	GM12891	blood:	n/a
40	chr17:17414998-17415048	GM12878	blood:	n/a
41	chr17:17409003-17409053	MCF10A-Er-Src	breast:	n/a
42	chr17:17399802-17399852	RPTEC	kidney:	n/a
43	chr17:17389971-17390021	IMR90	lung:	fetal
44	chr17:17394732-17394782	HL-60	blood:	n/a
45	chr17:17399941-17399991	AG04449	skin:	fetal
46	chr17:17407880-17407930	MCF10A-Er-Src	breast:	n/a
47	chr17:17407880-17407930	Hela-S3	cervix:	n/a
48	chr17:17403227-17403277	MCF10A-Er-Src	breast:	n/a
49	chr17:17398264-17398314	HAEpiC	amniotic membrane:	n/a
50	chr17:17396436-17396486	Hela-S3	cervix:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:17259051..17260073-chr17:17399842..17400699,3	MCF-7	breast:
2	chr17:17396999..17399572-chr17:17585740..17587599,2	MCF-7	breast:
3	chr17:17400239..17400807-chr17:17472787..17473779,2	K562	blood:
4	chr17:17282517..17284843-chr17:17397818..17399697,2	MCF-7	breast:
5	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
6	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
7	chr17:17389215..17391542-chr17:17392709..17394489,2	K562	blood:
8	chr17:17412469..17415269-chr17:17430447..17432803,2	MCF-7	breast:
9	chr17:17400144..17400698-chr17:17545089..17545735,2	MCF-7	breast:
10	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
11	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
12	chr17:17398348..17401153-chr17:17494060..17496594,3	MCF-7	breast:
13	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
14	chr17:17389044..17391097-chr17:17393981..17396776,2	MCF-7	breast:
15	chr17:17404221..17407416-chr17:17410177..17412032,3	K562	blood:
16	chr17:17407715..17410629-chr17:17418150..17421035,2	MCF-7	breast:
17	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
18	chr17:17405820..17407609-chr17:17411201..17413921,2	MCF-7	breast:
19	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
20	chr17:17398857..17400412-chr17:17494167..17496293,2	K562	blood:
21	chr17:17380272..17389088-chr17:17391260..17395887,13	K562	blood:
22	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:
23	chr17:17413540..17416682-chr17:17491858..17494964,3	MCF-7	breast:
24	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:
25	chr17:17382327..17386627-chr17:17397610..17400464,6	MCF-7	breast:
26	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
27	chr17:17415079..17418148-chr17:17445039..17448328,3	MCF-7	breast:
28	chr17:17379465..17384046-chr17:17386067..17389156,5	MCF-7	breast:
29	chr17:17291141..17292010-chr17:17399819..17400387,2	MCF-7	breast:
30	chr17:17259223..17259968-chr17:17404096..17405018,2	MCF-7	breast:
31	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
32	chr17:17415416..17417029-chr17:17420667..17422439,2	MCF-7	breast:
33	chr17:17382779..17384449-chr17:17466823..17468946,2	MCF-7	breast:
34	chr17:17400222..17400791-chr17:17471763..17472291,2	K562	blood:
35	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
36	chr17:17384547..17387384-chr17:17390768..17392757,2	MCF-7	breast:
37	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
38	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
39	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
40	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
41	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
42	chr17:17396965..17400190-chr17:17416535..17418625,3	MCF-7	breast:
43	chr17:17399780..17400738-chr17:17471636..17473808,15	MCF-7	breast:
44	chr17:17399769..17400801-chr17:17471936..17472657,4	MCF-7	breast:
45	chr17:17422447..17424302-chr17:17424957..17427591,2	MCF-7	breast:
46	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
47	chr17:17393460..17395575-chr17:17398622..17401130,3	K562	blood:
48	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
49	chr17:17379018..17381864-chr17:17382301..17386049,5	MCF-7	breast:
50	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED9-1	chr17:17410665-17410931	ENSG00000265511.1
2	lnc-MED9-1	chr17:17411095-17411622	ENSG00000265511.1

No data

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

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

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
ENSG00000198563	chromatin interactions
ENSG00000154803	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000133027	chromatin interactions
ENSG00000141026	chromatin interactions
ENSG00000187954	chromatin interactions
ENSG00000108551	chromatin interactions
ENSG00000167702	chromatin interactions
ENSG00000264187	chromatin interactions
ENSG00000264666	chromatin interactions
ENSG00000265511	chromatin interactions
ENSG00000254578	chromatin interactions

Extended variants
information (count: 1858 )
Associated
traits (count: 163 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1242502	chr17:17381764-17381765	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538739251	chr17:17381787-17381788	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575642360	chr17:17381839-17381840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76435989	chr17:17381866-17381867	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544496072	chr17:17381873-17381874	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182792723	chr17:17381911-17381912	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533331082	chr17:17381940-17381941	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540450347	chr17:17381944-17381945	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560150012	chr17:17381959-17381960	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528981310	chr17:17381981-17381982	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9910537	chr17:17382004-17382005	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549106766	chr17:17382029-17382030	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563478137	chr17:17382048-17382049	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568749052	chr17:17382053-17382054	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187398404	chr17:17382143-17382144	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34087993	chr17:17382165-17382166	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550373953	chr17:17382171-17382172	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56376204	chr17:17382186-17382187	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551678914	chr17:17382201-17382202	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191630210	chr17:17382207-17382208	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145953340	chr17:17382209-17382210	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139853362	chr17:17382239-17382240	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1263509	chr17:17382245-17382246	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185063622	chr17:17382269-17382270	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535576807	chr17:17382319-17382320	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55888211	chr17:17382338-17382339	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568538959	chr17:17382377-17382378	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569488943	chr17:17382387-17382388	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544229271	chr17:17382506-17382507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558005122	chr17:17382512-17382513	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58186296	chr17:17382545-17382546	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142834483	chr17:17382581-17382582	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371365828	chr17:17382585-17382586	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143303515	chr17:17382637-17382638	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377392576	chr17:17382646-17382647	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371031008	chr17:17382683-17382684	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373422981	chr17:17382711-17382712	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540378228	chr17:17382747-17382748	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537443956	chr17:17382774-17382775	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529530376	chr17:17382797-17382798	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371672890	chr17:17382833-17382834	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs60733498	chr17:17382842-17382843	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35147742	chr17:17382847-17382848	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78812049	chr17:17382848-17382849	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542341529	chr17:17382874-17382875	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148564876	chr17:17382915-17382916	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377507293	chr17:17382918-17382919	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113454025	chr17:17382968-17382969	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571838896	chr17:17382984-17382985	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531304552	chr17:17382992-17382993	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:163)

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
Melanoma	22183965	CNVD

Chromatin state (count:2356 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17380000-17381800	Active TSS	Right Ventricle	heart
2	chr17:17380400-17381800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:17380400-17382000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr17:17380400-17385600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr17:17380600-17381800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:17380600-17382000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:17380600-17382600	Active TSS	Right Atrium	heart
8	chr17:17380800-17381800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17380800-17381800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:17380800-17381800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:17380800-17381800	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr17:17380800-17381800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr17:17380800-17381800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:17380800-17381800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr17:17380800-17381800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr17:17380800-17381800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr17:17380800-17381800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr17:17380800-17381800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr17:17380800-17381800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:17380800-17381800	Flanking Active TSS	NHEK	skin
21	chr17:17380800-17382000	Flanking Active TSS	Hela-S3	cervix
22	chr17:17380800-17382000	Transcr. at gene 5' and 3'	K562	blood
23	chr17:17380800-17382400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr17:17381000-17381800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:17381000-17381800	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr17:17381000-17381800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr17:17381000-17381800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:17381000-17381800	Flanking Active TSS	Fetal Heart	heart
29	chr17:17381000-17381800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr17:17381000-17381800	Enhancers	Spleen	Spleen
31	chr17:17381000-17381800	Flanking Active TSS	GM12878-XiMat	blood
32	chr17:17381000-17381800	Flanking Active TSS	HMEC	breast
33	chr17:17381000-17382000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17381000-17382000	Flanking Active TSS	HepG2	liver
35	chr17:17381000-17382600	Enhancers	Small Intestine	intestine
36	chr17:17381000-17383200	Weak transcription	Lung	lung
37	chr17:17381200-17381800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:17381200-17381800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:17381200-17381800	Flanking Active TSS	A549	lung
40	chr17:17381200-17382000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:17381200-17382000	Enhancers	Primary B cells from peripheral blood	blood
42	chr17:17381200-17382000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:17381200-17382000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:17381200-17382000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr17:17381200-17382000	Enhancers	Brain Substantia Nigra	brain
46	chr17:17381200-17382000	Enhancers	Placenta	Placenta
47	chr17:17381200-17382400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:17381200-17382400	Enhancers	Fetal Stomach	stomach
49	chr17:17381200-17382600	Enhancers	Stomach Mucosa	stomach
50	chr17:17381200-17382800	Enhancers	Primary B cells from cord blood	blood

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