Variant report

Variant	nsv833524
Chromosome Location	chr17:66524030-66705194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1668)
CpG islands
(count:1282)
Chromatin interactive
region (count:88)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

(count:1668 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:66610277-66610288	K562	blood:	n/a	n/a
2	ARID3A	chr17:66594528-66595123	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:66530325-66530606	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:66580944-66581508	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:66604796-66604838	HepG2	liver:	n/a	n/a
6	ARID3A	chr17:66608006-66608536	HepG2	liver:	n/a	n/a
7	ARID3A	chr17:66602885-66603054	HepG2	liver:	n/a	n/a
8	ATF2	chr17:66610057-66610484	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr17:66574397-66574407	K562	blood:	n/a	n/a
10	BACH1	chr17:66595950-66596865	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr17:66610122-66610378	K562	blood:	n/a	n/a
12	BHLHE40	chr17:66597260-66597613	HepG2	liver:	n/a	chr17:66597317-66597333
13	BRCA1	chr17:66576635-66576799	HepG2	liver:	n/a	n/a
14	BRCA1	chr17:66611835-66611882	HepG2	liver:	n/a	n/a
15	CBX3	chr17:66604614-66604966	HCT-116	colon:	n/a	n/a
16	CBX3	chr17:66604622-66605156	HCT-116	colon:	n/a	n/a
17	CCNT2	chr17:66596329-66596524	K562	blood:	n/a	n/a
18	CCNT2	chr17:66530892-66531004	K562	blood:	n/a	n/a
19	CCNT2	chr17:66697243-66697443	K562	blood:	n/a	n/a
20	CEBPB	chr17:66563295-66563483	HepG2	liver:	n/a	n/a
21	CEBPB	chr17:66694039-66694614	Hela-S3	cervix:	n/a	chr17:66694349-66694360 chr17:66694348-66694361 chr17:66694070-66694083
22	CEBPB	chr17:66647431-66647451	HepG2	liver:	n/a	n/a
23	CEBPB	chr17:66594709-66594951	HepG2	liver:	n/a	n/a
24	CEBPB	chr17:66694171-66694532	A549	lung:	n/a	chr17:66694349-66694360 chr17:66694348-66694361
25	CEBPB	chr17:66599169-66599292	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr17:66693976-66694545	IMR90	lung:	n/a	chr17:66694349-66694360 chr17:66694348-66694361 chr17:66694070-66694083
27	CEBPB	chr17:66694233-66694419	HepG2	liver:	n/a	chr17:66694349-66694360 chr17:66694348-66694361
28	CEBPB	chr17:66694065-66694669	HCT-116	colon:	n/a	chr17:66694349-66694360 chr17:66694348-66694361 chr17:66694070-66694083
29	CEBPB	chr17:66568337-66568670	HepG2	liver:	n/a	chr17:66568495-66568504 chr17:66568495-66568504 chr17:66568492-66568509 chr17:66568495-66568504 chr17:66568493-66568504 chr17:66568495-66568504 chr17:66568494-66568505 chr17:66568493-66568506
30	CEBPB	chr17:66616239-66616282	HepG2	liver:	n/a	chr17:66616246-66616257
31	CEBPB	chr17:66576357-66576796	HepG2	liver:	n/a	chr17:66576592-66576603 chr17:66576590-66576607
32	CEBPB	chr17:66694217-66694503	H1-hESC	embryonic stem cell:	n/a	chr17:66694349-66694360 chr17:66694348-66694361
33	CEBPB	chr17:66563185-66563552	HepG2	liver:	n/a	n/a
34	CEBPB	chr17:66644279-66644293	HepG2	liver:	n/a	n/a
35	CEBPB	chr17:66657846-66658124	HepG2	liver:	n/a	chr17:66657990-66658003 chr17:66657991-66658002
36	CEBPB	chr17:66568333-66568656	K562	blood:	n/a	chr17:66568495-66568504 chr17:66568495-66568504 chr17:66568492-66568509 chr17:66568495-66568504 chr17:66568493-66568504 chr17:66568495-66568504 chr17:66568494-66568505 chr17:66568493-66568506
37	CEBPB	chr17:66563218-66563552	HepG2	liver:	n/a	n/a
38	CEBPB	chr17:66563186-66563562	HepG2	liver:	n/a	n/a
39	CEBPB	chr17:66587784-66587984	K562	blood:	n/a	n/a
40	CEBPB	chr17:66677297-66677520	HepG2	liver:	n/a	n/a
41	CEBPB	chr17:66694179-66694485	K562	blood:	n/a	chr17:66694349-66694360 chr17:66694348-66694361
42	CEBPB	chr17:66647359-66647491	A549	lung:	n/a	n/a
43	CEBPB	chr17:66576482-66576698	A549	lung:	n/a	chr17:66576592-66576603 chr17:66576590-66576607
44	CEBPB	chr17:66568420-66568560	HepG2	liver:	n/a	chr17:66568495-66568504 chr17:66568495-66568504 chr17:66568492-66568509 chr17:66568495-66568504 chr17:66568493-66568504 chr17:66568495-66568504 chr17:66568494-66568505 chr17:66568493-66568506
45	CEBPB	chr17:66693914-66694775	HCT-116	colon:	n/a	chr17:66694349-66694360 chr17:66694348-66694361 chr17:66694070-66694083
46	CEBPB	chr17:66701552-66701774	IMR90	lung:	n/a	n/a
47	CEBPB	chr17:66610974-66611419	MCF-7	breast:	n/a	n/a
48	CEBPB	chr17:66576323-66576852	HepG2	liver:	n/a	chr17:66576592-66576603 chr17:66576590-66576607
49	CEBPB	chr17:66647438-66647469	IMR90	lung:	n/a	n/a
50	CEBPB	chr17:66576431-66576791	HepG2	liver:	n/a	chr17:66576592-66576603 chr17:66576590-66576607

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:66596275-66596325	NHBE	bronchial:	n/a
2	chr17:66596275-66596325	NHBE	bronchial:	n/a
3	chr17:66597007-66597057	SK-N-SH	brain:	n/a
4	chr17:66596275-66596325	NT2-D1	testis:	n/a
5	chr17:66594586-66594636	HCF	heart:	n/a
6	chr17:66555864-66555914	K562	blood:	n/a
7	chr17:66596999-66597049	ProgFib	skin:	n/a
8	chr17:66573573-66573623	NH-A	brain:	n/a
9	chr17:66657633-66657683	AG09319	gingival:	n/a
10	chr17:66592243-66592293	Caco-2	colon:	n/a
11	chr17:66555864-66555914	HPAEpiC	pulmonary alveolar:	n/a
12	chr17:66592243-66592293	Hepatocyte	liver:	n/a
13	chr17:66554600-66554650	GM06990	blood:	n/a
14	chr17:66597500-66597550	SAEC	small airway:	n/a
15	chr17:66554600-66554650	Jurkat	blood:	n/a
16	chr17:66702732-66702782	HIPEpiC	eye:	n/a
17	chr17:66526694-66526744	Hepatocyte	liver:	n/a
18	chr17:66597378-66597428	PrEC	prostate:	n/a
19	chr17:66702732-66702782	GM19239	blood:	n/a
20	chr17:66597007-66597057	NT2-D1	testis:	n/a
21	chr17:66594875-66594925	Jurkat	blood:	n/a
22	chr17:66597007-66597057	Hela-S3	cervix:	n/a
23	chr17:66657633-66657683	AoSMC	blood vessel:	n/a
24	chr17:66555141-66555191	K562	blood:	n/a
25	chr17:66573573-66573623	K562	blood:	n/a
26	chr17:66573573-66573623	AoSMC	blood vessel:	n/a
27	chr17:66597007-66597057	HEEpiC	esophagus:	n/a
28	chr17:66596275-66596325	HepG2	liver:	n/a
29	chr17:66597372-66597422	NB4	blood:	n/a
30	chr17:66555864-66555914	HCF	heart:	n/a
31	chr17:66596275-66596325	Caco-2	colon:	n/a
32	chr17:66555141-66555191	ECC-1	luminal epithelium:	n/a
33	chr17:66588601-66588651	HCPEpiC	choroid plexus:	n/a
34	chr17:66702732-66702782	HMEC	breast:	n/a
35	chr17:66592243-66592293	MCF-7	breast:	n/a
36	chr17:66694586-66694636	GM12892	blood:	n/a
37	chr17:66555864-66555914	AoSMC	blood vessel:	n/a
38	chr17:66555864-66555914	A549	lung:	n/a
39	chr17:66592243-66592293	RPTEC	kidney:	n/a
40	chr17:66657633-66657683	NHDF-neo	bronchial:	n/a
41	chr17:66596999-66597049	AG10803	skin:	n/a
42	chr17:66594586-66594636	ECC-1	luminal epithelium:	n/a
43	chr17:66597007-66597057	NHBE	bronchial:	n/a
44	chr17:66597378-66597428	HCF	heart:	n/a
45	chr17:66597372-66597422	AG04450	lung:	fetal
46	chr17:66592243-66592293	T-47D	breast:	n/a
47	chr17:66596275-66596325	NHDF-neo	bronchial:	n/a
48	chr17:66588601-66588651	HRCEpiC	kidney:	n/a
49	chr17:66573573-66573623	SK-N-SH_RA	brain:	n/a
50	chr17:66694586-66694636	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:66529985..66530933-chr17:66609187..66610631,6	MCF-7	breast:
2	chr17:66545890..66547411-chr17:66550502..66553080,2	MCF-7	breast:
3	chr17:66568011..66569692-chr17:66570952..66573120,2	MCF-7	breast:
4	chr17:66561395..66563836-chr17:66567665..66570201,2	MCF-7	breast:
5	chr17:66549645..66553348-chr17:66560847..66563979,4	MCF-7	breast:
6	chr17:66527864..66531011-chr17:66532032..66534027,3	MCF-7	breast:
7	chr17:66530039..66530857-chr17:66609476..66610343,3	MCF-7	breast:
8	chr17:66601169..66603557-chr17:66607136..66609788,2	MCF-7	breast:
9	chr17:66583779..66585724-chr17:66586654..66588181,2	MCF-7	breast:
10	chr17:66528639..66530741-chr17:66530963..66533446,4	MCF-7	breast:
11	chr17:66535353..66536627-chr17:66609171..66610753,8	MCF-7	breast:
12	chr17:66680620..66682606-chr17:66699443..66702030,2	K562	blood:
13	chr17:66529985..66530933-chr17:66609187..66610631,6	MCF-7	breast:
14	chr17:66535403..66536231-chr17:66755796..66756599,3	MCF-7	breast:
15	chr17:66528639..66530741-chr17:66530963..66533446,4	MCF-7	breast:
16	chr17:66535353..66536627-chr17:66609171..66610753,8	MCF-7	breast:
17	chr17:66545890..66547411-chr17:66550502..66553080,2	MCF-7	breast:
18	chr17:66683001..66685178-chr17:66690448..66692903,2	MCF-7	breast:
19	chr17:66630097..66631029-chr17:66755701..66756657,4	MCF-7	breast:
20	chr17:66571720..66573973-chr17:66576760..66578500,2	K562	blood:
21	chr17:66523700..66527434-chr17:66534416..66537406,5	MCF-7	breast:
22	chr17:66529744..66531083-chr17:66755766..66756671,8	MCF-7	breast:
23	chr17:66666780..66669632-chr17:66670131..66672815,2	MCF-7	breast:
24	chr17:66549645..66553348-chr17:66560847..66563979,4	MCF-7	breast:
25	chr17:66550801..66553709-chr17:66555577..66557317,2	K562	blood:
26	chr17:66507181..66509363-chr17:66616036..66618534,2	MCF-7	breast:
27	chr17:66582830..66585296-chr17:66588108..66590010,2	K562	blood:
28	chr17:66507858..66510140-chr17:66521050..66524441,3	K562	blood:
29	chr17:66523580..66525122-chr17:66528078..66530398,2	MCF-7	breast:
30	chr17:66572034..66573645-chr17:66589626..66592620,2	MCF-7	breast:
31	chr17:66634857..66636649-chr17:66638616..66641473,2	MCF-7	breast:
32	chr17:66508255..66510518-chr17:66525854..66528774,2	K562	blood:
33	chr17:66678522..66680960-chr17:66686718..66689408,2	MCF-7	breast:
34	chr17:66585160..66586935-chr17:66601716..66603246,2	MCF-7	breast:
35	chr17:66680620..66682606-chr17:66699443..66702030,2	K562	blood:
36	chr17:66528921..66530775-chr17:66608186..66610701,2	MCF-7	breast:
37	chr17:66693516..66694283-chr17:66756057..66756579,2	K562	blood:
38	chr17:66589100..66590786-chr17:66609311..66611164,2	MCF-7	breast:
39	chr17:66535781..66536413-chr17:66609699..66610622,2	MCF-7	breast:
40	chr17:66672132..66674780-chr17:66675785..66677805,2	K562	blood:
41	chr17:66533552..66536227-chr17:66536363..66538767,2	K562	blood:
42	chr17:66609852..66610757-chr17:66755905..66756657,2	MCF-7	breast:
43	chr17:66530099..66531694-chr17:66754931..66757389,2	MCF-7	breast:
44	chr17:66634857..66636649-chr17:66638616..66641473,2	MCF-7	breast:
45	chr1:205304760..205305355-chr17:66637640..66638501,2	MCF-7	breast:
46	chr17:66576950..66578591-chr17:66586418..66589362,2	MCF-7	breast:
47	chr17:66521777..66523989-chr17:66524053..66526868,3	K562	blood:
48	chr17:66585160..66586935-chr17:66601716..66603246,2	MCF-7	breast:
49	chr17:66691270..66693327-chr17:66710315..66712722,2	MCF-7	breast:
50	chr17:66462019..66462889-chr17:66610053..66610702,3	MCF-7	breast:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAR1A-3	chr17:66578527-66578718	ENSG00000267461.1
2	lnc-PRKAR1A-3	chr17:66571210-66571325	ENSG00000267461.1
3	lnc-PRKAR1A-1	chr17:66638605-66638895	NONHSAT055549
4	lnc-PRKAR1A-1	chr17:66638811-66638906	ENSG00000267659.1
5	lnc-PRKAR1A-2	chr17:66528681-66528910	NONHSAT055541
6	lnc-PRKAR1A-1	chr17:66668254-66668307	ENSG00000267659.1
7	lnc-PRKAR1A-4	chr17:66613238-66613404	NONHSAT055545
8	lnc-PRKAR1A-1	chr17:66587937-66588019	ENSG00000267659.1
9	lnc-PRKAR1A-1	chr17:66587980-66588019	ENSG00000267659.1
10	lnc-PRKAR1A-1	chr17:66594173-66594287	ENSG00000267659.1
11	lnc-PRKAR1A-1	chr17:66673090-66673506	ENSG00000267659.1
12	lnc-PRKAR1A-1	chr17:66638398-66638536	XLOC_012291
13	lnc-PRKAR1A-1	chr17:66643793-66644037	NONHSAT055550
14	lnc-PRKAR1A-1	chr17:66624244-66624327	ENSG00000267659.1
15	lnc-PRKAR1A-1	chr17:66638811-66638970	NONHSAT055548
16	lnc-PRKAR1A-1	chr17:66638639-66638906	NONHSAT055550
17	lnc-PRKAR1A-4	chr17:66610154-66610372	NONHSAT055545
18	lnc-PRKAR1A-3	chr17:66553657-66553732	ENSG00000267461.1
19	lnc-PRKAR1A-1	chr17:66638397-66638536	NONHSAT055549
20	lnc-PRKAR1A-1	chr17:66654789-66654876	ENSG00000267659.1
21	lnc-PRKAR1A-1	chr17:66638378-66638536	NONHSAT055548
22	lnc-PRKAR1A-1	chr17:66673732-66675747	ENSG00000267659.1
23	lnc-FAM20A-3	chr17:66693332-66693391	ucscGeneNc_uc002jis_2
24	lnc-PRKAR1A-1	chr17:66638811-66638883	XLOC_012291
25	lnc-FAM20A-3	chr17:66605511-66607354	ucscGeneNc_uc002jis_2
26	lnc-PRKAR1A-1	chr17:66654789-66654876	ENSG00000267659.1
27	lnc-PRKAR1A-1	chr17:66673090-66673307	ENSG00000267659.1
28	lnc-PRKAR1A-1	chr17:66624295-66624327	ENSG00000267659.1
29	lnc-FAM20A-3	chr17:66640126-66640206	ucscGeneNc_uc002jis_2

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PRKAR1A	hsa-miR-215-5p	chr17:66528854-66528875
2	PRKAR1A	hsa-miR-155-5p	chr17:66526754-66526761
3	PRKAR1A	hsa-miR-16-5p	chr17:66527576-66527598
4	PRKAR1A	hsa-miR-96-5p	chr17:66527370-66527392
5	PRKAR1A	hsa-miR-96-5p	chr17:66528392-66528414
6	PRKAR1A	hsa-miR-192-5p	chr17:66528868-66528875
7	PRKAR1A	hsa-miR-192-5p	chr17:66528854-66528875
8	PRKAR1A	hsa-miR-204-5p	chr17:66527584-66527605
9	PRKAR1A	hsa-miR-25-3p	chr17:66526913-66526937
10	PRKAR1A	hsa-miR-155-5p	chr17:66526736-66526761
11	PRKAR1A	hsa-miR-96-5p	chr17:66527385-66527392
12	PRKAR1A	hsa-miR-215-5p	chr17:66528868-66528875

Variant related genes	Relation type
ENSG00000267461	TF binding region
ENSG00000269657	TF binding region
ENSG00000267659	TF binding region
FAM20A	TF binding region
ENSG00000267461	CpG island
ENSG00000269657	CpG island
ENSG00000267659	CpG island
FAM20A	CpG island
ENSG00000108950	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000108946	chromatin interactions
ENSG00000269657	chromatin interactions
ENSG00000238331	chromatin interactions
ENSG00000267659	chromatin interactions
ENSG00000267461	chromatin interactions
RNF2	miRNA target sites
ITPKB	miRNA target sites

Extended variants
information (count: 6080 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:6080 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375239425	chr17:66524051-66524052	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370879039	chr17:66524065-66524066	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369524104	chr17:66524112-66524113	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565319688	chr17:66524218-66524219	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183071691	chr17:66524219-66524220	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543811762	chr17:66524284-66524285	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187846823	chr17:66524397-66524398	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559638269	chr17:66524489-66524490	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530304186	chr17:66524508-66524509	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548769204	chr17:66524537-66524538	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2952272	chr17:66524565-66524566	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs191947958	chr17:66524669-66524670	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72847794	chr17:66524755-66524756	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151060217	chr17:66524802-66524803	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3730369	chr17:66524857-66524858	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547382405	chr17:66524866-66524867	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566002296	chr17:66524875-66524876	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571540610	chr17:66524924-66524925	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112290562	chr17:66524936-66524937	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372905685	chr17:66524961-66524962	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10432004	chr17:66524977-66524978	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377507781	chr17:66524984-66524985	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2302230	chr17:66524987-66524988	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562094333	chr17:66525002-66525003	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182841147	chr17:66525003-66525004	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs281864785	chr17:66525027-66525028	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201774040	chr17:66525039-66525040	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs281864795	chr17:66525087-66525088	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs281864799	chr17:66525135-66525136	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553475881	chr17:66525207-66525208	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188778098	chr17:66525217-66525218	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192705106	chr17:66525228-66525229	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184912071	chr17:66525248-66525249	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542149661	chr17:66525294-66525295	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563954706	chr17:66525298-66525299	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372986998	chr17:66525324-66525325	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144595850	chr17:66525344-66525345	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543539026	chr17:66525364-66525365	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564987949	chr17:66525387-66525388	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147647032	chr17:66525401-66525402	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547418880	chr17:66525402-66525403	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142235529	chr17:66525404-66525405	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188974462	chr17:66525415-66525416	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548182881	chr17:66525445-66525446	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569859268	chr17:66525460-66525461	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2907387	chr17:66525464-66525465	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs573906780	chr17:66525486-66525487	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191505827	chr17:66525522-66525523	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145972819	chr17:66525537-66525538	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534756769	chr17:66525559-66525560	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:2375 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
2	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:66511800-66531600	Strong transcription	Fetal Intestine Large	intestine
5	chr17:66511800-66536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:66511800-66537000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:66512000-66530000	Strong transcription	HSMM	muscle
9	chr17:66513200-66528600	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr17:66513200-66533000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:66514200-66528800	Strong transcription	HepG2	liver
12	chr17:66514600-66526400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:66514800-66525600	Weak transcription	Spleen	Spleen
14	chr17:66514800-66527800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr17:66514800-66537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:66514800-66537400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:66514800-66537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:66515000-66535800	Strong transcription	Placenta	Placenta
19	chr17:66515200-66533400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:66515200-66534600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:66516400-66524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:66516400-66525600	Weak transcription	Gastric	stomach
23	chr17:66516600-66527400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:66516600-66535800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:66516800-66535400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:66517200-66530000	Strong transcription	Osteobl	bone
27	chr17:66517200-66537600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:66517400-66537000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:66517600-66526400	Weak transcription	Fetal Intestine Small	intestine
30	chr17:66517600-66528800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:66517600-66529800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:66517600-66532200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:66517600-66535400	Strong transcription	HMEC	breast
34	chr17:66517600-66536800	Strong transcription	Fetal Thymus	thymus
35	chr17:66517600-66537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:66517800-66528600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:66518000-66528200	Strong transcription	NHDF-Ad	bronchial
38	chr17:66518000-66534000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:66518000-66534600	Strong transcription	A549	lung
40	chr17:66518000-66535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:66518000-66536800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:66518000-66537200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:66518200-66527800	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:66518200-66530000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:66518200-66534600	Strong transcription	Primary B cells from cord blood	blood
46	chr17:66518200-66536600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr17:66518200-66536800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:66518200-66537600	Strong transcription	Primary T cells from cord blood	blood
49	chr17:66518200-66537800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr17:66518400-66527600	Strong transcription	NHLF	lung

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