Variant report

Variant	esv3329403
Chromosome Location	chr17:16255252-16258100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:634)
CpG islands
(count:979)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:16255629-16256188	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:16255486-16256213	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:16256870-16257132	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr17:16255595-16256490	A549	lung:	n/a	chr17:16256154-16256167 chr17:16255733-16255746 chr17:16255735-16255744 chr17:16255793-16255802
5	BCLAF1	chr17:16255612-16256150	GM12878	blood:	n/a	chr17:16255733-16255746 chr17:16255735-16255744 chr17:16255793-16255802
6	BHLHE40	chr17:16257036-16257039	K562	blood:	n/a	n/a
7	BHLHE40	chr17:16256554-16257121	HepG2	liver:	n/a	chr17:16256917-16256933
8	BRCA1	chr17:16256899-16257177	GM12878	blood:	n/a	n/a
9	BRCA1	chr17:16255608-16256094	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr17:16255575-16255878	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr17:16256799-16257251	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr17:16256822-16257184	HepG2	liver:	n/a	n/a
13	BRCA1	chr17:16255220-16255328	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr17:16256756-16257197	K562	blood:	n/a	n/a
15	CCNT2	chr17:16255682-16255869	K562	blood:	n/a	n/a
16	CCNT2	chr17:16256122-16257060	K562	blood:	n/a	n/a
17	CEBPB	chr17:16256873-16256956	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr17:16255096-16255717	A549	lung:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
19	CEBPB	chr17:16256967-16257236	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr17:16255257-16255597	K562	blood:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
21	CEBPB	chr17:16255214-16255591	IMR90	lung:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
22	CEBPB	chr17:16255212-16255957	Hela-S3	cervix:	n/a	chr17:16255407-16255418 chr17:16255407-16255420
23	CEBPD	chr17:16256830-16257147	HepG2	liver:	n/a	n/a
24	CHD1	chr17:16257193-16257271	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr17:16255716-16255954	GM12878	blood:	n/a	n/a
26	CHD1	chr17:16255212-16256659	H1-hESC	embryonic stem cell:	n/a	chr17:16256243-16256250 chr17:16256199-16256209 chr17:16256152-16256162
27	CHD2	chr17:16255595-16256254	Hela-S3	cervix:	n/a	chr17:16256243-16256250 chr17:16256199-16256209 chr17:16256152-16256162
28	CHD2	chr17:16255552-16256238	HepG2	liver:	n/a	chr17:16256199-16256209 chr17:16256152-16256162
29	CHD2	chr17:16256511-16257012	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr17:16256601-16257226	HepG2	liver:	n/a	n/a
31	CHD2	chr17:16256824-16257189	GM12878	blood:	n/a	n/a
32	CHD2	chr17:16255600-16256035	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr17:16256747-16257388	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr17:16255601-16255970	K562	blood:	n/a	n/a
35	CHD2	chr17:16256646-16257169	K562	blood:	n/a	n/a
36	CREB1	chr17:16255454-16256324	HepG2	liver:	n/a	n/a
37	CREB1	chr17:16256240-16257262	A549	lung:	n/a	n/a
38	CREB1	chr17:16255507-16255887	A549	lung:	n/a	n/a
39	CTCF	chr17:16256756-16256878	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr17:16256760-16256910	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr17:16256880-16257030	SAEC	small airway:	n/a	n/a
42	CTCF	chr17:16256820-16256970	GM12866	blood:	n/a	n/a
43	CTCF	chr17:16256820-16256970	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr17:16256820-16256970	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr17:16256800-16256950	GM12866	blood:	n/a	n/a
46	CTCF	chr17:16256800-16256950	RPTEC	kidney:	n/a	n/a
47	CTCF	chr17:16256820-16256970	HVMF	connective:	n/a	n/a
48	CTCF	chr17:16256720-16256870	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr17:16255700-16255850	AG04449	skin:	n/a	chr17:16255796-16255809 chr17:16255797-16255807
50	CTCF	chr17:16256727-16257003	Spleen_OC	spleen:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16255560-16255610	T-47D	breast:	n/a
2	chr17:16256667-16256717	AG04449	skin:	fetal
3	chr17:16257111-16257161	U87	brain:	n/a
4	chr17:16255560-16255610	T-47D	breast:	n/a
5	chr17:16256667-16256717	AG04449	skin:	fetal
6	chr17:16257111-16257161	U87	brain:	n/a
7	chr17:16255884-16255934	SKMC	muscle:	n/a
8	chr17:16256389-16256439	RPTEC	kidney:	n/a
9	chr17:16257165-16257215	GM06990	blood:	n/a
10	chr17:16255560-16255610	K562	blood:	n/a
11	chr17:16256974-16257024	PrEC	prostate:	n/a
12	chr17:16257010-16257060	PrEC	prostate:	n/a
13	chr17:16257010-16257060	HCM	heart:	n/a
14	chr17:16257010-16257060	GM12892	blood:	n/a
15	chr17:16257111-16257161	GM12892	blood:	n/a
16	chr17:16256389-16256439	NB4	blood:	n/a
17	chr17:16257111-16257161	MCF-7	breast:	n/a
18	chr17:16257135-16257185	SK-N-MC	brain:	n/a
19	chr17:16256990-16257040	PFSK-1	brain:	n/a
20	chr17:16257165-16257215	AG09319	gingival:	n/a
21	chr17:16257223-16257273	NB4	blood:	n/a
22	chr17:16257111-16257161	IMR90	lung:	fetal
23	chr17:16256990-16257040	K562	blood:	n/a
24	chr17:16255739-16255789	AG09309	skin:	n/a
25	chr17:16256974-16257024	HEK293	kidney:	embryo
26	chr17:16255884-16255934	T-47D	breast:	n/a
27	chr17:16256389-16256439	NT2-D1	testis:	n/a
28	chr17:16257111-16257161	GM19239	blood:	n/a
29	chr17:16256568-16256618	HRPEpiC	eye:	n/a
30	chr17:16256974-16257024	GM06990	blood:	n/a
31	chr17:16257010-16257060	HAEpiC	amniotic membrane:	n/a
32	chr17:16255560-16255610	HCT-116	colon:	n/a
33	chr17:16256974-16257024	IMR90	lung:	fetal
34	chr17:16256937-16256987	ECC-1	luminal epithelium:	n/a
35	chr17:16257165-16257215	HCPEpiC	choroid plexus:	n/a
36	chr17:16256992-16257042	K562	blood:	n/a
37	chr17:16257223-16257273	HUVEC	blood vessel:	n/a
38	chr17:16256990-16257040	PrEC	prostate:	n/a
39	chr17:16256992-16257042	U87	brain:	n/a
40	chr17:16255739-16255789	CMK	blood:	n/a
41	chr17:16256937-16256987	Hela-S3	cervix:	n/a
42	chr17:16256992-16257042	GM19239	blood:	n/a
43	chr17:16257010-16257060	HEK293	kidney:	embryo
44	chr17:16256990-16257040	HCF	heart:	n/a
45	chr17:16255560-16255610	H1-hESC	embryonic stem cell:	embryo
46	chr17:16256389-16256439	HCM	heart:	n/a
47	chr17:16256992-16257042	SK-N-MC	brain:	n/a
48	chr17:16256992-16257042	GM06990	blood:	n/a
49	chr17:16256992-16257042	SAEC	small airway:	n/a
50	chr17:16256990-16257040	BJ	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16255579..16258175-chr17:16317390..16320464,4	K562	blood:
2	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
3	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
4	chr17:16254890..16255689-chr17:59860995..59861816,2	MCF-7	breast:
5	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
6	chr17:16255649..16256190-chr5:81267269..81267929,2	Hela-S3	cervix:
7	chr17:16255603..16256214-chr17:78120426..78120928,2	Hela-S3	cervix:
8	chr17:16255579..16257907-chr17:16317390..16319077,3	K562	blood:
9	chr17:16220122..16222963-chr17:16255326..16257269,2	MCF-7	breast:
10	chr17:16255944..16256499-chr17:16342648..16343571,2	Hela-S3	cervix:
11	chr17:16255365..16257267-chr17:16344110..16346155,2	K562	blood:
12	chr17:16254424..16256101-chr17:16267326..16269115,2	K562	blood:
13	chr11:62648364..62648968-chr17:16255776..16256732,2	Hela-S3	cervix:
14	chr17:16256283..16257212-chr5:172197673..172198301,2	Hela-S3	cervix:
15	chr17:16253920..16255484-chr17:16262908..16264472,2	K562	blood:
16	chr17:16256179..16256981-chr6:30710207..30711099,2	Hela-S3	cervix:
17	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
18	chr17:16255950..16256675-chr3:4534784..4535381,2	Hela-S3	cervix:
19	chr17:16255208..16258130-chr17:16282843..16284827,3	MCF-7	breast:
20	chr17:16254878..16257710-chr17:16340945..16342947,3	K562	blood:
21	chr17:16254441..16256330-chr17:16335664..16338333,2	K562	blood:

No data

Variant related genes	Relation type
CENPV	TF binding region
CENPV	CpG island
ENSG00000187688	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000264739	chromatin interactions
ENSG00000231249	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000150995	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000272273	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113168789	chr17:16255267-16255268	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs533400403	chr17:16255433-16255434	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs527402804	chr17:16255436-16255437	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs368173375	chr17:16255484-16255485	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs566628223	chr17:16255487-16255488	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs529307315	chr17:16255494-16255495	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs548979203	chr17:16255500-16255501	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs568882823	chr17:16255507-16255508	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs538214805	chr17:16255509-16255510	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs190278566	chr17:16255539-16255540	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs181152305	chr17:16255553-16255554	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs114370425	chr17:16255582-16255583	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs147459950	chr17:16255606-16255607	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs572992458	chr17:16255631-16255632	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs541921389	chr17:16255721-16255722	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs555481927	chr17:16255769-16255770	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs575166757	chr17:16255882-16255883	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs200428558	chr17:16255935-16255936	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs567856681	chr17:16255939-16255940	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs370153041	chr17:16255942-16255943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs533627960	chr17:16256011-16256012	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs540435649	chr17:16256033-16256034	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs560279036	chr17:16256066-16256067	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs184066711	chr17:16256068-16256069	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs534005524	chr17:16256073-16256074	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs569316849	chr17:16256113-16256114	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs531646571	chr17:16256116-16256117	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs551746215	chr17:16256121-16256122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs570667039	chr17:16256201-16256202	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs539713371	chr17:16256214-16256215	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs3095172	chr17:16256240-16256241	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566703429	chr17:16256269-16256270	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs535631590	chr17:16256317-16256318	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs555542775	chr17:16256324-16256325	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs139916089	chr17:16256413-16256414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs537446594	chr17:16256414-16256415	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs372877471	chr17:16256460-16256461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs201815751	chr17:16256492-16256493	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs557695053	chr17:16256515-16256516	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs113562102	chr17:16256566-16256567	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs578198570	chr17:16256637-16256638	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs540495470	chr17:16256654-16256655	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs12951110	chr17:16256671-16256672	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs560390150	chr17:16256677-16256678	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs188652843	chr17:16256681-16256682	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs539910742	chr17:16256686-16256687	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs573928905	chr17:16256848-16256849	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs145798583	chr17:16256905-16256906	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs562885252	chr17:16256925-16256926	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs538010702	chr17:16256997-16256998	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

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

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16229400-16255600	Weak transcription	Esophagus	oesophagus
2	chr17:16233200-16255400	Weak transcription	Right Atrium	heart
3	chr17:16248000-16255400	Weak transcription	Placenta	Placenta
4	chr17:16248000-16255400	Weak transcription	Ovary	ovary
5	chr17:16251800-16255400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:16252200-16255400	Weak transcription	Small Intestine	intestine
7	chr17:16253000-16255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:16253000-16255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:16253000-16255400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:16253000-16255400	Weak transcription	Right Ventricle	heart
11	chr17:16253000-16255400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:16253000-16255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:16253000-16255600	Weak transcription	Gastric	stomach
14	chr17:16253000-16255600	Weak transcription	Lung	lung
15	chr17:16253000-16255600	Weak transcription	Spleen	Spleen
16	chr17:16253200-16255400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:16253200-16255400	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:16253200-16255600	Weak transcription	Left Ventricle	heart
19	chr17:16253200-16255600	Weak transcription	Pancreas	Pancrea
20	chr17:16253400-16255400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:16254400-16255800	Flanking Active TSS	Dnd41	blood
22	chr17:16254400-16257200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr17:16254600-16255400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr17:16254600-16255400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:16254600-16255400	Active TSS	Fetal Intestine Large	intestine
26	chr17:16254600-16255400	Flanking Active TSS	GM12878-XiMat	blood
27	chr17:16254600-16255600	Active TSS	Fetal Intestine Small	intestine
28	chr17:16254600-16255800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr17:16254600-16257000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr17:16254600-16257000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:16254600-16257000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:16254600-16257000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:16254600-16257000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:16254600-16257000	Active TSS	K562	blood
35	chr17:16254600-16257400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:16254800-16257000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:16254800-16257200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr17:16254800-16257400	Active TSS	Fetal Brain Female	brain
39	chr17:16255000-16255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:16255000-16255400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr17:16255000-16255400	Enhancers	Rectal Smooth Muscle	rectum
42	chr17:16255000-16255400	Flanking Active TSS	Hela-S3	cervix
43	chr17:16255000-16255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:16255000-16255600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr17:16255000-16255600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:16255000-16256000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr17:16255000-16256000	Flanking Active TSS	HUVEC	blood vessel
48	chr17:16255000-16256000	Flanking Active TSS	Osteobl	bone
49	chr17:16255000-16256200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:16255000-16256200	Active TSS	Fetal Brain Male	brain

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