Variant report

Variant	nsv960424
Chromosome Location	chr17:16284855-16286202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:363)
CpG islands
(count:183)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:16283976-16285270	GM12878	blood:	n/a	n/a
2	ATF2	chr17:16283995-16284978	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr17:16284041-16285006	GM12878	blood:	n/a	n/a
4	ATF3	chr17:16283832-16284892	A549	lung:	n/a	chr17:16284299-16284308 chr17:16284613-16284633 chr17:16284698-16284712
5	ATF3	chr17:16283985-16285004	A549	lung:	n/a	chr17:16284299-16284308 chr17:16284613-16284633 chr17:16284698-16284712
6	BACH1	chr17:16284758-16285281	K562	blood:	n/a	n/a
7	BACH1	chr17:16284186-16284908	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr17:16284176-16285058	GM12878	blood:	n/a	n/a
9	BCL3	chr17:16283835-16285251	A549	lung:	n/a	n/a
10	BCLAF1	chr17:16284119-16285173	GM12878	blood:	n/a	n/a
11	BCLAF1	chr17:16284080-16285142	GM12878	blood:	n/a	n/a
12	BHLHE40	chr17:16283901-16284901	GM12878	blood:	n/a	n/a
13	BRCA1	chr17:16284763-16284961	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr17:16283949-16285138	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr17:16284887-16284949	GM12878	blood:	n/a	n/a
16	BRCA1	chr17:16284122-16284938	HepG2	liver:	n/a	n/a
17	CBX3	chr17:16284180-16284895	K562	blood:	n/a	n/a
18	CEBPB	chr17:16283907-16285103	GM12878	blood:	n/a	n/a
19	CEBPB	chr17:16283944-16284982	Hela-S3	cervix:	n/a	n/a
20	CEBPD	chr17:16284106-16284865	K562	blood:	n/a	n/a
21	CEBPZ	chr17:16284790-16285107	HepG2	liver:	n/a	n/a
22	CHD1	chr17:16284705-16285243	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr17:16284238-16285287	GM12878	blood:	n/a	n/a
24	CHD2	chr17:16283885-16285162	GM12878	blood:	n/a	n/a
25	CHD2	chr17:16283958-16285217	K562	blood:	n/a	n/a
26	CHD2	chr17:16283835-16284989	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr17:16284156-16284905	K562	blood:	n/a	n/a
28	CREB1	chr17:16283882-16284904	K562	blood:	n/a	n/a
29	CREB1	chr17:16283846-16284858	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr17:16283850-16284962	HepG2	liver:	n/a	n/a
31	CREB1	chr17:16283845-16285246	GM12878	blood:	n/a	n/a
32	CREB1	chr17:16283819-16284896	GM12878	blood:	n/a	n/a
33	CREB1	chr17:16283840-16284918	HepG2	liver:	n/a	n/a
34	CTCF	chr17:16284840-16284990	A549	lung:	n/a	n/a
35	CTCF	chr17:16285452-16286003	T-47D	breast:	n/a	n/a
36	CTCF	chr17:16284177-16284941	K562	blood:	n/a	n/a
37	CTCF	chr17:16284720-16284870	GM06990	blood:	n/a	n/a
38	CTCF	chr17:16284394-16284858	K562	blood:	n/a	n/a
39	CTCF	chr17:16284800-16284950	GM12864	blood:	n/a	n/a
40	CTCF	chr17:16285152-16285441	T-47D	breast:	n/a	n/a
41	CUX1	chr17:16284172-16285208	K562	blood:	n/a	n/a
42	CUX1	chr17:16284764-16285059	GM12878	blood:	n/a	n/a
43	E2F4	chr17:16283860-16284857	K562	blood:	n/a	chr17:16283967-16283976
44	E2F4	chr17:16283872-16285090	MCF10A-Er-Src	breast:	n/a	chr17:16283967-16283976
45	E2F6	chr17:16283837-16284907	A549	lung:	n/a	chr17:16283967-16283976
46	EBF1	chr17:16284773-16284907	GM12878	blood:	n/a	n/a
47	ELF1	chr17:16283939-16285085	A549	lung:	n/a	n/a
48	ELF1	chr17:16283771-16284956	GM12878	blood:	n/a	n/a
49	ELF1	chr17:16283818-16284863	GM12878	blood:	n/a	n/a
50	ELK1	chr17:16284088-16285011	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16284988-16285038	SAEC	small airway:	n/a
2	chr17:16284988-16285038	CMK	blood:	n/a
3	chr17:16284909-16284959	AoSMC	blood vessel:	n/a
4	chr17:16284988-16285038	AG09309	skin:	n/a
5	chr17:16285290-16285340	HCM	heart:	n/a
6	chr17:16284909-16284959	NHDF-neo	bronchial:	n/a
7	chr17:16285290-16285340	HRCEpiC	kidney:	n/a
8	chr17:16284909-16284959	T-47D	breast:	n/a
9	chr17:16284909-16284959	MCF-7	breast:	n/a
10	chr17:16284988-16285038	ECC-1	luminal epithelium:	n/a
11	chr17:16285290-16285340	CMK	blood:	n/a
12	chr17:16284988-16285038	Hepatocyte	liver:	n/a
13	chr17:16285290-16285340	AG04450	lung:	fetal
14	chr17:16284988-16285038	ProgFib	skin:	n/a
15	chr17:16284909-16284959	H1-hESC	embryonic stem cell:	embryo
16	chr17:16284988-16285038	ovcar-3	ovarian:	n/a
17	chr17:16284909-16284959	NHBE	bronchial:	n/a
18	chr17:16284909-16284959	NH-A	brain:	n/a
19	chr17:16285290-16285340	GM12892	blood:	n/a
20	chr17:16284909-16284959	A549	lung:	n/a
21	chr17:16285290-16285340	PANC-1	pancreas:	n/a
22	chr17:16284988-16285038	HRE	kidney:	n/a
23	chr17:16284909-16284959	AG04449	skin:	fetal
24	chr17:16284988-16285038	HEEpiC	esophagus:	n/a
25	chr17:16285290-16285340	AG09309	skin:	n/a
26	chr17:16285290-16285340	HL-60	blood:	n/a
27	chr17:16284909-16284959	HCF	heart:	n/a
28	chr17:16284909-16284959	BE2_C	brain:	n/a
29	chr17:16285290-16285340	HCT-116	colon:	n/a
30	chr17:16284909-16284959	GM19239	blood:	n/a
31	chr17:16284988-16285038	SK-N-MC	brain:	n/a
32	chr17:16285290-16285340	NHDF-neo	bronchial:	n/a
33	chr17:16284988-16285038	HMEC	breast:	n/a
34	chr17:16284909-16284959	MCF10A-Er-Src	breast:	n/a
35	chr17:16284988-16285038	HRPEpiC	eye:	n/a
36	chr17:16285290-16285340	ECC-1	luminal epithelium:	n/a
37	chr17:16284988-16285038	NB4	blood:	n/a
38	chr17:16284909-16284959	K562	blood:	n/a
39	chr17:16284909-16284959	HRCEpiC	kidney:	n/a
40	chr17:16284909-16284959	IMR90	lung:	fetal
41	chr17:16284909-16284959	SK-N-MC	brain:	n/a
42	chr17:16285290-16285340	NH-A	brain:	n/a
43	chr17:16284988-16285038	SKMC	muscle:	n/a
44	chr17:16284909-16284959	Jurkat	blood:	n/a
45	chr17:16284909-16284959	HAEpiC	amniotic membrane:	n/a
46	chr17:16284988-16285038	Jurkat	blood:	n/a
47	chr17:16284909-16284959	GM06990	blood:	n/a
48	chr17:16285290-16285340	IMR90	lung:	fetal
49	chr17:16284909-16284959	HL-60	blood:	n/a
50	chr17:16284988-16285038	AG10803	skin:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16282841..16285518-chr17:16329026..16332012,2	K562	blood:
2	chr17:16282813..16296019-chr17:16339657..16347255,30	K562	blood:
3	chr17:16120523..16122902-chr17:16284277..16285939,2	MCF-7	breast:
4	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
5	chr17:16283653..16286565-chr17:16321807..16325393,5	MCF-7	breast:
6	chr17:16286008..16287647-chr17:16329953..16332431,2	MCF-7	breast:
7	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
8	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
9	chr17:16244398..16248540-chr17:16283211..16286242,3	MCF-7	breast:
10	chr16:25269099..25269867-chr17:16284176..16284869,2	HCT-116	colon:
11	chr17:16284703..16285236-chr7:23145227..23146017,2	Hela-S3	cervix:
12	chr17:16283022..16285941-chr17:16293957..16297490,5	MCF-7	breast:
13	chr17:16282157..16292955-chr17:16316721..16324527,22	K562	blood:
14	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
15	chr17:16284180..16284861-chr5:137800761..137801443,2	HCT-116	colon:
16	chr17:16282507..16286910-chr17:16340967..16348886,17	K562	blood:
17	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
18	chr17:16280844..16288183-chr17:16338320..16344372,17	MCF-7	breast:
19	chr17:16286179..16290055-chr17:16297586..16300314,3	K562	blood:
20	chr17:16246064..16249335-chr17:16283382..16285642,3	MCF-7	breast:
21	chr17:16285971..16289301-chr17:16317139..16320452,4	MCF-7	breast:
22	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
23	chr17:16282285..16286163-chr17:16348924..16355139,5	K562	blood:
24	chr17:16282157..16291704-chr17:16317315..16324527,14	K562	blood:
25	chr12:125395295..125399195-chr17:16283774..16286758,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBB-1	chr17:16285881-16286395	ENSG00000249281.1

No data

Variant related genes	Relation type
ENSG00000265401	TF binding region
ENSG00000265401	CpG island
ENSG00000230658	chromatin interactions
ENSG00000120738	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000181350	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000265095	chromatin interactions
ENSG00000187688	chromatin interactions
ENSG00000166582	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000264739	chromatin interactions
ENSG00000239203	chromatin interactions
ENSG00000155592	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544023749	chr17:16284867-16284868	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs564166646	chr17:16284874-16284875	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs532780226	chr17:16284889-16284890	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs190053028	chr17:16284919-16284920	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs546160162	chr17:16284931-16284932	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs574958484	chr17:16284956-16284957	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs142131851	chr17:16284975-16284976	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs529575438	chr17:16284980-16284981	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs372712047	chr17:16284993-16284994	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs549640320	chr17:16284997-16284998	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs369140938	chr17:16285051-16285052	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs9908067	chr17:16285063-16285064	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374724851	chr17:16285073-16285074	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs374809382	chr17:16285099-16285100	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs374084685	chr17:16285104-16285105	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs369361020	chr17:16285110-16285111	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs182709944	chr17:16285115-16285116	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs369794648	chr17:16285156-16285157	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs373070690	chr17:16285162-16285163	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs201740624	chr17:16285174-16285175	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs571683162	chr17:16285190-16285191	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs369491013	chr17:16285191-16285192	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs534209325	chr17:16285199-16285200	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs372493327	chr17:16285207-16285208	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs113860592	chr17:16285212-16285213	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs554238159	chr17:16285216-16285217	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs574069006	chr17:16285239-16285240	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs11550545	chr17:16285243-16285244	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs542187113	chr17:16285245-16285246	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs555632378	chr17:16285263-16285264	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs17026960	chr17:16285266-16285267	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs151174232	chr17:16285278-16285279	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs544360242	chr17:16285293-16285294	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs34227126	chr17:16285308-16285309	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs397839871	chr17:16285320-16285321	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs16962978	chr17:16285329-16285330	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs16962981	chr17:16285332-16285333	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs564048225	chr17:16285335-16285336	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs373239807	chr17:16285350-16285351	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs139133663	chr17:16285364-16285365	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs149735634	chr17:16285369-16285370	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs143121650	chr17:16285371-16285372	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs17849300	chr17:16285377-16285378	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs145568298	chr17:16285380-16285381	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs147392000	chr17:16285381-16285382	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs559756360	chr17:16285383-16285384	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs148876590	chr17:16285386-16285387	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs9908960	chr17:16285404-16285405	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556723568	chr17:16285412-16285413	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs146449749	chr17:16285416-16285417	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	11 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
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

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16283400-16285200	Active TSS	Colonic Mucosa	Colon
2	chr17:16283400-16285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:16283600-16285000	Active TSS	Primary T cells from cord blood	blood
4	chr17:16283600-16285000	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr17:16283600-16285000	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:16283600-16285000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:16283600-16285000	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr17:16283600-16285000	Active TSS	Brain Anterior Caudate	brain
9	chr17:16283600-16285000	Active TSS	Fetal Muscle Trunk	muscle
10	chr17:16283600-16285000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr17:16283600-16285000	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr17:16283600-16285200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:16283600-16285200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:16283600-16285200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:16283600-16285200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:16283600-16285200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:16283600-16285200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:16283600-16285200	Active TSS	Colon Smooth Muscle	Colon
19	chr17:16283600-16285200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr17:16283600-16285200	Active TSS	Fetal Intestine Small	intestine
21	chr17:16283600-16285200	Active TSS	Fetal Stomach	stomach
22	chr17:16283600-16285200	Active TSS	Thymus	Thymus
23	chr17:16283600-16285200	Active TSS	Hela-S3	cervix
24	chr17:16283600-16285200	Active TSS	HSMM	muscle
25	chr17:16283600-16285200	Active TSS	Osteobl	bone
26	chr17:16283600-16285400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr17:16283600-16285400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr17:16283600-16285400	Active TSS	HSMMtube	muscle
29	chr17:16283600-16285600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr17:16283600-16285600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:16283600-16285600	Active TSS	GM12878-XiMat	blood
32	chr17:16283600-16285800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:16283600-16285800	Active TSS	Brain Cingulate Gyrus	brain
34	chr17:16283600-16285800	Active TSS	Brain Hippocampus Middle	brain
35	chr17:16283600-16285800	Active TSS	Fetal Brain Female	brain
36	chr17:16283600-16285800	Active TSS	Right Ventricle	heart
37	chr17:16283600-16286000	Active TSS	Brain Angular Gyrus	brain
38	chr17:16283600-16286000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:16283600-16286000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:16283600-16286000	Active TSS	Fetal Kidney	kidney
41	chr17:16283600-16286200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:16283600-16286200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:16283800-16285000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:16283800-16285000	Active TSS	Primary B cells from peripheral blood	blood
45	chr17:16283800-16285000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:16283800-16285000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr17:16283800-16285000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr17:16283800-16285000	Active TSS	Brain Substantia Nigra	brain
49	chr17:16283800-16285000	Active TSS	Duodenum Mucosa	Duodenum
50	chr17:16283800-16285000	Active TSS	Pancreatic Islets	Pancreatic Islet

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