Variant report

Variant	nsv827903
Chromosome Location	chr17:16251979-16283760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1121)
CpG islands
(count:1343)
Chromatin interactive
region (count:66)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:16267121-16267623	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:16281176-16281880	HepG2	liver:	n/a	chr17:16281218-16281234 chr17:16281219-16281235
3	ATF1	chr17:16275138-16275315	K562	blood:	n/a	n/a
4	ATF2	chr17:16255629-16256188	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr17:16267028-16267433	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:16256870-16257132	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:16255486-16256213	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr17:16267147-16267418	GM12878	blood:	n/a	n/a
9	BATF	chr17:16265216-16265460	GM12878	blood:	n/a	n/a
10	BATF	chr17:16265213-16265539	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:16265229-16265447	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:16265198-16265477	GM12878	blood:	n/a	n/a
13	BCL3	chr17:16255595-16256490	A549	lung:	n/a	chr17:16256154-16256167 chr17:16255733-16255746 chr17:16255735-16255744 chr17:16255793-16255802
14	BCLAF1	chr17:16255612-16256150	GM12878	blood:	n/a	chr17:16255733-16255746 chr17:16255735-16255744 chr17:16255793-16255802
15	BCLAF1	chr17:16266949-16267477	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:16257036-16257039	K562	blood:	n/a	n/a
17	BHLHE40	chr17:16265247-16265422	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:16281924-16282238	A549	lung:	n/a	n/a
19	BHLHE40	chr17:16283218-16283232	HepG2	liver:	n/a	n/a
20	BHLHE40	chr17:16256554-16257121	HepG2	liver:	n/a	chr17:16256917-16256933
21	BHLHE40	chr17:16281982-16282231	K562	blood:	n/a	n/a
22	BHLHE40	chr17:16267099-16267405	K562	blood:	n/a	n/a
23	BRCA1	chr17:16255575-16255878	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr17:16256899-16257177	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:16256799-16257251	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr17:16255220-16255328	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr17:16275074-16275395	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr17:16282030-16282283	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr17:16255608-16256094	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr17:16256822-16257184	HepG2	liver:	n/a	n/a
31	CBX3	chr17:16256756-16257197	K562	blood:	n/a	n/a
32	CCNT2	chr17:16255682-16255869	K562	blood:	n/a	n/a
33	CCNT2	chr17:16256122-16257060	K562	blood:	n/a	n/a
34	CEBPB	chr17:16277457-16277816	IMR90	lung:	n/a	n/a
35	CEBPB	chr17:16277448-16277833	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr17:16275074-16275423	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr17:16255096-16255717	A549	lung:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
38	CEBPB	chr17:16255257-16255597	K562	blood:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
39	CEBPB	chr17:16255212-16255957	Hela-S3	cervix:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
40	CEBPB	chr17:16256967-16257236	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr17:16281869-16282466	MCF-7	breast:	n/a	chr17:16282206-16282217
42	CEBPB	chr17:16281289-16282370	A549	lung:	n/a	chr17:16281473-16281484 chr17:16282206-16282217
43	CEBPB	chr17:16267126-16267414	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr17:16281911-16282306	HepG2	liver:	n/a	chr17:16282206-16282217
45	CEBPB	chr17:16256873-16256956	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr17:16281959-16282388	Hela-S3	cervix:	n/a	chr17:16282206-16282217
47	CEBPB	chr17:16255214-16255591	IMR90	lung:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
48	CEBPB	chr17:16282096-16282268	K562	blood:	n/a	chr17:16282206-16282217
49	CEBPB	chr17:16277516-16277776	A549	lung:	n/a	n/a
50	CEBPB	chr17:16281904-16282392	K562	blood:	n/a	chr17:16282206-16282217

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16256937-16256987	HCT-116	colon:	n/a
2	chr17:16256937-16256987	HCT-116	colon:	n/a
3	chr17:16255619-16255669	AG09319	gingival:	n/a
4	chr17:16255884-16255934	MCF-7	breast:	n/a
5	chr17:16257010-16257060	HL-60	blood:	n/a
6	chr17:16256992-16257042	HCF	heart:	n/a
7	chr17:16282382-16282432	NB4	blood:	n/a
8	chr17:16256937-16256987	LNCaP	prostate:	n/a
9	chr17:16257010-16257060	HEEpiC	esophagus:	n/a
10	chr17:16260166-16260216	SK-N-SH	brain:	n/a
11	chr17:16255560-16255610	SAEC	small airway:	n/a
12	chr17:16257165-16257215	HAEpiC	amniotic membrane:	n/a
13	chr17:16256992-16257042	HRE	kidney:	n/a
14	chr17:16256974-16257024	ProgFib	skin:	n/a
15	chr17:16255884-16255934	PrEC	prostate:	n/a
16	chr17:16256974-16257024	GM06990	blood:	n/a
17	chr17:16282382-16282432	ECC-1	luminal epithelium:	n/a
18	chr17:16282410-16282460	HIPEpiC	eye:	n/a
19	chr17:16282434-16282484	H1-hESC	embryonic stem cell:	embryo
20	chr17:16256389-16256439	AG04450	lung:	fetal
21	chr17:16256992-16257042	NT2-D1	testis:	n/a
22	chr17:16282434-16282484	K562	blood:	n/a
23	chr17:16256568-16256618	T-47D	breast:	n/a
24	chr17:16256568-16256618	Caco-2	colon:	n/a
25	chr17:16255739-16255789	HepG2	liver:	n/a
26	chr17:16256389-16256439	HepG2	liver:	n/a
27	chr17:16257135-16257185	MCF10A-Er-Src	breast:	n/a
28	chr17:16256974-16257024	HNPCEpiC	eye:	n/a
29	chr17:16256990-16257040	NHBE	bronchial:	n/a
30	chr17:16257223-16257273	NHDF-neo	bronchial:	n/a
31	chr17:16255884-16255934	Caco-2	colon:	n/a
32	chr17:16256974-16257024	PrEC	prostate:	n/a
33	chr17:16257010-16257060	AG09309	skin:	n/a
34	chr17:16282434-16282484	SK-N-MC	brain:	n/a
35	chr17:16256937-16256987	SK-N-SH_RA	brain:	n/a
36	chr17:16257165-16257215	GM19239	blood:	n/a
37	chr17:16252642-16252692	T-47D	breast:	n/a
38	chr17:16257165-16257215	Hela-S3	cervix:	n/a
39	chr17:16257135-16257185	HCF	heart:	n/a
40	chr17:16256389-16256439	Hela-S3	cervix:	n/a
41	chr17:16255884-16255934	HEEpiC	esophagus:	n/a
42	chr17:16257010-16257060	SAEC	small airway:	n/a
43	chr17:16260166-16260216	CMK	blood:	n/a
44	chr17:16281514-16281564	GM12878	blood:	n/a
45	chr17:16255619-16255669	HCF	heart:	n/a
46	chr17:16255739-16255789	SAEC	small airway:	n/a
47	chr17:16257165-16257215	AG09309	skin:	n/a
48	chr17:16256389-16256439	HAEpiC	amniotic membrane:	n/a
49	chr17:16255884-16255934	HMEC	breast:	n/a
50	chr17:16255560-16255610	PANC-1	pancreas:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:16274215..16275767-chr17:16278120..16280285,2	MCF-7	breast:
2	chr17:16250349..16252189-chr17:16342946..16344453,2	K562	blood:
3	chr17:16283653..16286565-chr17:16321807..16325393,5	MCF-7	breast:
4	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
5	chr17:16275481..16279634-chr17:16282996..16288027,5	MCF-7	breast:
6	chr17:16266744..16267680-chr17:16318361..16318899,2	K562	blood:
7	chr17:16255579..16258175-chr17:16317390..16320464,4	K562	blood:
8	chr17:16276108..16277617-chr17:16343748..16346155,2	K562	blood:
9	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:
10	chr17:16255579..16257907-chr17:16317390..16319077,3	K562	blood:
11	chr17:16265218..16268845-chr17:16343746..16347107,5	K562	blood:
12	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
13	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
14	chr17:16254441..16256330-chr17:16335664..16338333,2	K562	blood:
15	chr17:16255950..16256675-chr3:4534784..4535381,2	Hela-S3	cervix:
16	chr17:16255944..16256499-chr17:16342648..16343571,2	Hela-S3	cervix:
17	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:
18	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
19	chr17:16266880..16268158-chr17:16424116..16425459,6	K562	blood:
20	chr17:16246064..16249335-chr17:16283382..16285642,3	MCF-7	breast:
21	chr17:16278073..16279617-chr17:16285022..16287783,2	K562	blood:
22	chr17:16256179..16256981-chr6:30710207..30711099,2	Hela-S3	cervix:
23	chr17:16184982..16187700-chr17:16281026..16283855,2	K562	blood:
24	chr17:16279652..16281497-chr17:16284391..16286025,2	K562	blood:
25	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
26	chr17:16280089..16281787-chr17:16345000..16347906,2	K562	blood:
27	chr17:16265803..16268649-chr17:16283945..16285935,2	MCF-7	breast:
28	chr17:16282813..16296019-chr17:16339657..16347255,30	K562	blood:
29	chr17:16255765..16257328-chr17:16260460..16263039,2	MCF-7	breast:
30	chr11:62648364..62648968-chr17:16255776..16256732,2	Hela-S3	cervix:
31	chr17:16266815..16267728-chr17:16317761..16318908,3	MCF-7	breast:
32	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
33	chr17:16247641..16249541-chr17:16249937..16252175,3	K562	blood:
34	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
35	chr17:16282841..16285518-chr17:16329026..16332012,2	K562	blood:
36	chr17:16265967..16268292-chr17:16345607..16348010,2	K562	blood:
37	chr17:16220122..16222963-chr17:16255326..16257269,2	MCF-7	breast:
38	chr17:16256283..16257212-chr5:172197673..172198301,2	Hela-S3	cervix:
39	chr17:16282157..16292955-chr17:16316721..16324527,22	K562	blood:
40	chr17:16253920..16255484-chr17:16262908..16264472,2	K562	blood:
41	chr17:16267070..16268853-chr17:16275090..16277360,2	MCF-7	breast:
42	chr17:16244398..16248540-chr17:16283211..16286242,3	MCF-7	breast:
43	chr17:16282507..16286910-chr17:16340967..16348886,17	K562	blood:
44	chr17:16254424..16256101-chr17:16267326..16269115,2	K562	blood:
45	chr17:16265625..16269914-chr17:16283238..16286141,5	MCF-7	breast:
46	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
47	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
48	chr17:16267186..16269021-chr17:16346111..16348065,2	MCF-7	breast:
49	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
50	chr17:16254890..16255689-chr17:59860995..59861816,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPV-1	chr17:16253943-16255093	ENSG00000250690

No data

Variant related genes	Relation type
CENPV	TF binding region
UBB	TF binding region
CENPV	CpG island
UBB	CpG island
ENSG00000181350	chromatin interactions
ENSG00000187688	chromatin interactions
ENSG00000150995	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000265401	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000166582	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000239203	chromatin interactions
ENSG00000264739	chromatin interactions
ENSG00000231249	chromatin interactions
ENSG00000221355	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000265095	chromatin interactions
URB2	miRNA target sites

Extended variants
information (count: 1130 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:1130 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374278548	chr17:16252033-16252034	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs567030421	chr17:16252062-16252063	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs529692068	chr17:16252107-16252108	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs2286665	chr17:16252109-16252110	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs200499958	chr17:16252165-16252166	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569598454	chr17:16252295-16252296	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376117303	chr17:16252315-16252316	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559231514	chr17:16252401-16252402	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs145618795	chr17:16252439-16252440	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534228102	chr17:16252572-16252573	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs147730283	chr17:16252614-16252615	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555161237	chr17:16252629-16252630	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532844050	chr17:16252643-16252644	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs574991453	chr17:16252721-16252722	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543908594	chr17:16252723-16252724	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557096052	chr17:16252743-16252744	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577205267	chr17:16252746-16252747	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553724619	chr17:16252752-16252753	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551549065	chr17:16252797-16252798	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs545872037	chr17:16252801-16252802	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565222146	chr17:16252814-16252815	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs3112528	chr17:16252856-16252857	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540828276	chr17:16252860-16252861	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149190988	chr17:16252952-16252953	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142578113	chr17:16253094-16253095	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs549499685	chr17:16253106-16253107	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs539706111	chr17:16253150-16253151	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs201870460	chr17:16253228-16253229	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192528929	chr17:16253229-16253230	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140754338	chr17:16253331-16253332	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368530668	chr17:16253337-16253338	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375355653	chr17:16253507-16253508	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551876945	chr17:16253511-16253512	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566373568	chr17:16253512-16253513	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535290357	chr17:16253513-16253514	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555226266	chr17:16253550-16253551	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568638170	chr17:16253563-16253564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537629143	chr17:16253564-16253565	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373311062	chr17:16253599-16253600	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577255459	chr17:16253655-16253656	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs80047125	chr17:16253674-16253675	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3095175	chr17:16253713-16253714	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553043921	chr17:16253803-16253804	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572029287	chr17:16253815-16253816	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540891562	chr17:16253822-16253823	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140759126	chr17:16253824-16253825	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556071641	chr17:16253844-16253845	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183298129	chr17:16253904-16253905	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567832677	chr17:16253933-16253934	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542048982	chr17:16253934-16253935	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
Multiple myeloma	17550852	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	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
Breast cancer	17142309	CNVD
Autism	22102821	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	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16214600-16255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:16217200-16255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:16229400-16255600	Weak transcription	Esophagus	oesophagus
4	chr17:16230400-16253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:16230400-16255000	Weak transcription	Primary B cells from cord blood	blood
6	chr17:16230400-16255200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:16230400-16255200	Weak transcription	Brain Substantia Nigra	brain
8	chr17:16230600-16254200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr17:16230600-16255200	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:16230600-16255200	Weak transcription	HSMMtube	muscle
11	chr17:16230800-16254600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr17:16233200-16255400	Weak transcription	Right Atrium	heart
13	chr17:16238000-16255000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:16240800-16254800	Weak transcription	HSMM	muscle
15	chr17:16241000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:16241400-16252400	Weak transcription	HUVEC	blood vessel
17	chr17:16242000-16255000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:16242200-16255200	Weak transcription	NHEK	skin
19	chr17:16242800-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:16244600-16252600	Weak transcription	Psoas Muscle	Psoas
21	chr17:16244600-16254800	Weak transcription	Stomach Mucosa	stomach
22	chr17:16244800-16253200	Strong transcription	Fetal Intestine Small	intestine
23	chr17:16245200-16255200	Weak transcription	NHDF-Ad	bronchial
24	chr17:16245600-16253000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:16245600-16253000	Strong transcription	Brain Germinal Matrix	brain
26	chr17:16245600-16253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:16245600-16253200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:16245600-16253200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:16245600-16253400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr17:16245600-16253400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:16245600-16253400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:16245600-16253400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:16245600-16253400	Strong transcription	Fetal Intestine Large	intestine
34	chr17:16245600-16253400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr17:16245600-16253400	Strong transcription	Fetal Stomach	stomach
36	chr17:16245600-16253600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:16245600-16253600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:16245600-16253600	Strong transcription	A549	lung
39	chr17:16245600-16254200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:16245800-16253200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:16245800-16253200	Strong transcription	Liver	Liver
42	chr17:16245800-16253600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:16246000-16253000	Strong transcription	Dnd41	blood
44	chr17:16246000-16253600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:16246400-16255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:16246600-16252000	Weak transcription	GM12878-XiMat	blood
47	chr17:16246600-16252600	Strong transcription	Fetal Brain Female	brain
48	chr17:16246600-16253200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:16246600-16254800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:16246600-16255000	Weak transcription	Fetal Kidney	kidney

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