Variant report

Variant	nsv482696
Chromosome Location	chr17:18275972-18446377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1227)
CpG islands
(count:2199)
Chromatin interactive
region (count:13)
LncRNA
region (count:84)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18283094-18283294	K562	blood:	n/a	n/a
2	ATF2	chr17:18314118-18314356	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr17:18276575-18276810	K562	blood:	n/a	n/a
4	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr17:18306836-18307314	GM12878	blood:	n/a	n/a
7	BATF	chr17:18306799-18307466	GM12878	blood:	n/a	n/a
8	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
9	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
10	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
11	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
12	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
13	BATF	chr17:18276575-18276822	GM12878	blood:	n/a	chr17:18276707-18276718
14	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
15	BATF	chr17:18301531-18301764	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:18306873-18307246	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:18306911-18307191	GM12878	blood:	n/a	n/a
20	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
21	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
22	BCL3	chr17:18314773-18315245	A549	lung:	n/a	n/a
23	BHLHE40	chr17:18277362-18277445	K562	blood:	n/a	n/a
24	BHLHE40	chr17:18282904-18283115	K562	blood:	n/a	n/a
25	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
26	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
27	BHLHE40	chr17:18284936-18285074	K562	blood:	n/a	n/a
28	BHLHE40	chr17:18280957-18281131	GM12878	blood:	n/a	n/a
29	BRCA1	chr17:18280767-18281046	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr17:18281434-18281557	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr17:18280773-18281113	HepG2	liver:	n/a	chr17:18280955-18280966
32	CEBPB	chr17:18322048-18322324	K562	blood:	n/a	n/a
33	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376
34	CEBPB	chr17:18317946-18318165	IMR90	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
35	CEBPB	chr17:18280775-18281332	HepG2	liver:	n/a	chr17:18280955-18280966
36	CEBPB	chr17:18322037-18322380	K562	blood:	n/a	n/a
37	CEBPB	chr17:18282090-18282251	IMR90	lung:	n/a	n/a
38	CEBPB	chr17:18280691-18281529	Hela-S3	cervix:	n/a	chr17:18280955-18280966
39	CEBPB	chr17:18280887-18280990	K562	blood:	n/a	chr17:18280955-18280966
40	CEBPB	chr17:18280844-18281067	HepG2	liver:	n/a	chr17:18280955-18280966
41	CEBPB	chr17:18362210-18362602	Hela-S3	cervix:	n/a	chr17:18362363-18362376
42	CEBPB	chr17:18318052-18318134	A549	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
43	CEBPB	chr17:18280669-18281257	MCF-7	breast:	n/a	chr17:18280955-18280966
44	CEBPB	chr17:18322055-18322251	K562	blood:	n/a	n/a
45	CEBPB	chr17:18280845-18281055	IMR90	lung:	n/a	chr17:18280955-18280966
46	CEBPB	chr17:18280654-18281216	MCF-7	breast:	n/a	chr17:18280955-18280966
47	CEBPD	chr17:18280821-18281038	HepG2	liver:	n/a	chr17:18280954-18280965
48	CHD1	chr17:18315013-18315207	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr17:18314139-18314423	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr17:18280716-18281520	Hela-S3	cervix:	n/a	n/a

(count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18290668-18290718	Hepatocyte	liver:	n/a
2	chr17:18280183-18280233	RPTEC	kidney:	n/a
3	chr17:18432149-18432199	HAEpiC	amniotic membrane:	n/a
4	chr17:18290668-18290718	Hepatocyte	liver:	n/a
5	chr17:18280183-18280233	RPTEC	kidney:	n/a
6	chr17:18432149-18432199	HAEpiC	amniotic membrane:	n/a
7	chr17:18419896-18419946	Caco-2	colon:	n/a
8	chr17:18324790-18324840	HEK293	kidney:	embryo
9	chr17:18379129-18379179	T-47D	breast:	n/a
10	chr17:18380159-18380209	NT2-D1	testis:	n/a
11	chr17:18313048-18313098	Hepatocyte	liver:	n/a
12	chr17:18313121-18313171	HCF	heart:	n/a
13	chr17:18285810-18285860	HL-60	blood:	n/a
14	chr17:18280183-18280233	HRE	kidney:	n/a
15	chr17:18286644-18286694	HRCEpiC	kidney:	n/a
16	chr17:18285810-18285860	Hela-S3	cervix:	n/a
17	chr17:18325001-18325051	U87	brain:	n/a
18	chr17:18380354-18380404	HCT-116	colon:	n/a
19	chr17:18313121-18313171	HMEC	breast:	n/a
20	chr17:18397849-18397899	IMR90	lung:	fetal
21	chr17:18291699-18291749	NH-A	brain:	n/a
22	chr17:18380354-18380404	HAEpiC	amniotic membrane:	n/a
23	chr17:18280849-18280899	A549	lung:	n/a
24	chr17:18313121-18313171	LNCaP	prostate:	n/a
25	chr17:18380159-18380209	HRE	kidney:	n/a
26	chr17:18317909-18317959	HRCEpiC	kidney:	n/a
27	chr17:18430908-18430958	K562	blood:	n/a
28	chr17:18431043-18431093	HepG2	liver:	n/a
29	chr17:18325001-18325051	HRCEpiC	kidney:	n/a
30	chr17:18432149-18432199	ProgFib	skin:	n/a
31	chr17:18379129-18379179	HEEpiC	esophagus:	n/a
32	chr17:18280183-18280233	NHDF-neo	bronchial:	n/a
33	chr17:18290668-18290718	AG09309	skin:	n/a
34	chr17:18280183-18280233	GM12878	blood:	n/a
35	chr17:18419896-18419946	HNPCEpiC	eye:	n/a
36	chr17:18326064-18326114	SAEC	small airway:	n/a
37	chr17:18324895-18324945	HCF	heart:	n/a
38	chr17:18326064-18326114	A549	lung:	n/a
39	chr17:18324790-18324840	HCF	heart:	n/a
40	chr17:18430908-18430958	U87	brain:	n/a
41	chr17:18290668-18290718	AG04450	lung:	fetal
42	chr17:18280183-18280233	PrEC	prostate:	n/a
43	chr17:18431043-18431093	AoSMC	blood vessel:	n/a
44	chr17:18285810-18285860	Caco-2	colon:	n/a
45	chr17:18295431-18295481	GM19239	blood:	n/a
46	chr17:18325001-18325051	HCM	heart:	n/a
47	chr17:18325001-18325051	HL-60	blood:	n/a
48	chr17:18380354-18380404	BJ	skin:	n/a
49	chr17:18428092-18428142	U87	brain:	n/a
50	chr17:18280011-18280061	Hela-S3	cervix:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:
2	chr17:18278481..18280376-chr17:18284493..18286607,2	K562	blood:
3	chr17:18266644..18269551-chr17:18275910..18277412,2	K562	blood:
4	chr17:18271062..18274039-chr17:18283398..18285584,2	MCF-7	breast:
5	chr17:18278481..18280376-chr17:18284493..18286607,2	K562	blood:
6	chr17:18272997..18276591-chr17:18278173..18282382,3	MCF-7	breast:
7	chr17:18266722..18268365-chr17:18275980..18278903,2	MCF-7	breast:
8	chr17:18160932..18162896-chr17:18279447..18281125,2	MCF-7	breast:
9	chr17:18271239..18274758-chr17:18277396..18280809,3	MCF-7	breast:
10	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
11	chr17:18218839..18221214-chr17:18276166..18278374,2	MCF-7	breast:
12	chr17:18274257..18276063-chr17:18279560..18281416,2	K562	blood:
13	chr13:111365369..111366036-chr17:18280882..18281427,2	Hela-S3	cervix:

(count:84 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
2	lnc-AL353997.5.1-4	chr17:18344268-18344334	NONHSAT146373
3	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
4	lnc-AL353997.5.1-2	chr17:18317464-18317623	XLOC_012131
5	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
6	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18431900-18432061	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
9	lnc-FAM106A-2	chr17:18431887-18432126	NONHSAT146381
10	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
11	lnc-AL353997.5.1-6	chr17:18395483-18395859	NONHSAT146378
12	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146382
13	lnc-FAM106A-2	chr17:18427091-18427711	ENSG00000273018.1
14	lnc-AL353997.5.1-2	chr17:18315660-18315807	XLOC_012131
15	lnc-FAM106A-1	chr17:18427880-18430160	NR_026809
16	lnc-AL353997.1-1	chr17:18292171-18292691	NONHSAT146194
17	lnc-AL353997.5.1-4	chr17:18343220-18343625	NONHSAT146373
18	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18420725-18420787	ENSG00000273018.1
20	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
21	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
22	lnc-AL353997.5.1-1	chr17:18327635-18327951	ENSG00000205266.5
23	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
25	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
26	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
27	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
28	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
29	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
30	lnc-AL353997.5.1-2	chr17:18315660-18315823	XLOC_012131
31	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
32	lnc-FAM106A-2	chr17:18436661-18436705	ENSG00000273018.1
33	lnc-FAM106A-2	chr17:18436661-18436852	ENSG00000273018.1
34	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
35	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
36	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
37	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18436661-18436946	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18426965-18427191	ENSG00000273018.1
40	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
41	lnc-FAM106A-2	chr17:18435820-18436192	ENSG00000273018.1
42	lnc-AL353997.5.1-1	chr17:18328108-18328411	ENSG00000205266.5
43	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
44	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
45	lnc-AL353997.5.1-4	chr17:18343740-18343831	NONHSAT146373
46	lnc-AL353997.1-1	chr17:18291533-18291602	NONHSAT146194
47	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
48	lnc-FAM106A-2	chr17:18444241-18444277	NONHSAT146384
49	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
50	lnc-FAM106A-2	chr17:18431887-18432298	ENSG00000273018.1

No data

Variant related genes	Relation type
ENSG00000205266	TF binding region
USP32P2	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
ENSG00000267492	TF binding region
KRT16P1	TF binding region
ENSG00000267441	TF binding region
TNPO1P2	TF binding region
ENSG00000240279	TF binding region
YWHAEP2	TF binding region
EVPLL	TF binding region
FAM106A	TF binding region
KRT17P2	TF binding region
SRP68P2	TF binding region
ENSG00000220161	TF binding region
NOS2P2	TF binding region
TBC1D3P4	TF binding region
ENSG00000264177	TF binding region
ENSG00000273018	TF binding region
ENSG00000205266	CpG island
USP32P2	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
ENSG00000267492	CpG island
KRT16P1	CpG island
ENSG00000267441	CpG island
TNPO1P2	CpG island
ENSG00000240279	CpG island
YWHAEP2	CpG island
EVPLL	CpG island
FAM106A	CpG island
KRT17P2	CpG island
SRP68P2	CpG island
ENSG00000220161	CpG island
NOS2P2	CpG island
TBC1D3P4	CpG island
ENSG00000264177	CpG island
ENSG00000273018	CpG island
ENSG00000134905	chromatin interactions
ENSG00000176974	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000214860	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000263946	chromatin interactions
KIAA0664	miRNA target sites
KIAA0528	miRNA target sites

Extended variants
information (count: 3797 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:3797 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185164617	chr17:18276029-18276030	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs151150334	chr17:18276042-18276043	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570324224	chr17:18276062-18276063	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539305027	chr17:18276109-18276110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530816093	chr17:18276122-18276123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540984918	chr17:18276140-18276141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570762000	chr17:18276154-18276155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556206947	chr17:18276169-18276170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189637573	chr17:18276202-18276203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140178867	chr17:18276211-18276212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546371756	chr17:18276306-18276307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566561989	chr17:18276320-18276321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150334273	chr17:18276322-18276323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138268548	chr17:18276363-18276364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181115499	chr17:18276410-18276411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185958371	chr17:18276449-18276450	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142957845	chr17:18276452-18276453	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557832818	chr17:18276467-18276468	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577790373	chr17:18276532-18276533	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575958808	chr17:18276546-18276547	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533909563	chr17:18276589-18276590	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374683246	chr17:18276628-18276629	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9909759	chr17:18276672-18276673	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34314771	chr17:18276695-18276696	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190023213	chr17:18276700-18276701	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs9910599	chr17:18276836-18276837	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186533030	chr17:18276863-18276864	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190932810	chr17:18276903-18276904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145139609	chr17:18276969-18276970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541977392	chr17:18276970-18276971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544176477	chr17:18276976-18276977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559636696	chr17:18277035-18277036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372089687	chr17:18277061-18277062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534225548	chr17:18277115-18277116	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55827930	chr17:18277147-18277148	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369413798	chr17:18277150-18277151	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572167500	chr17:18277220-18277221	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533217648	chr17:18277265-18277266	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139023732	chr17:18277326-18277327	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541167655	chr17:18277348-18277349	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560244744	chr17:18277380-18277381	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529085998	chr17:18277393-18277394	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139455718	chr17:18277418-18277419	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs77930762	chr17:18277420-18277421	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549200707	chr17:18277448-18277449	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569054966	chr17:18277451-18277452	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12451627	chr17:18277463-18277464	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183515217	chr17:18277498-18277499	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs57197568	chr17:18277502-18277503	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551381663	chr17:18277593-18277594	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:169)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18267200-18288200	Weak transcription	Right Atrium	heart
2	chr17:18267400-18277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:18273800-18276000	Weak transcription	Placenta	Placenta
4	chr17:18274600-18276600	Enhancers	GM12878-XiMat	blood
5	chr17:18275000-18280200	Weak transcription	NHEK	skin
6	chr17:18275200-18277400	Weak transcription	A549	lung
7	chr17:18275800-18277200	Weak transcription	Hela-S3	cervix
8	chr17:18276000-18276600	Enhancers	Placenta	Placenta
9	chr17:18276600-18277400	Weak transcription	Placenta	Placenta
10	chr17:18277200-18277800	Enhancers	Hela-S3	cervix
11	chr17:18277400-18277600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:18277400-18277600	Enhancers	Placenta	Placenta
13	chr17:18277400-18277800	Enhancers	A549	lung
14	chr17:18277800-18280600	Weak transcription	Hela-S3	cervix
15	chr17:18277800-18281000	Weak transcription	A549	lung
16	chr17:18278400-18278800	Weak transcription	Thymus	Thymus
17	chr17:18278800-18279000	ZNF genes & repeats	Thymus	Thymus
18	chr17:18279000-18280600	Weak transcription	Thymus	Thymus
19	chr17:18279800-18280600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr17:18279800-18281400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr17:18279800-18281400	Enhancers	Spleen	Spleen
22	chr17:18279800-18281800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:18280200-18281000	Enhancers	NHEK	skin
24	chr17:18280400-18280600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:18280400-18280600	Enhancers	HepG2	liver
26	chr17:18280400-18281600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr17:18280400-18281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:18280400-18284200	Enhancers	Stomach Mucosa	stomach
29	chr17:18280600-18280800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:18280600-18280800	Flanking Active TSS	Hela-S3	cervix
31	chr17:18280600-18281000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:18280600-18281200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:18280600-18281200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:18280600-18281200	Flanking Active TSS	HepG2	liver
35	chr17:18280600-18281400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr17:18280600-18281400	Enhancers	Fetal Intestine Small	intestine
37	chr17:18280600-18281400	Enhancers	Fetal Thymus	thymus
38	chr17:18280600-18281400	Enhancers	Gastric	stomach
39	chr17:18280600-18281400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr17:18280600-18281400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr17:18280600-18281400	Enhancers	Thymus	Thymus
42	chr17:18280600-18281400	Enhancers	GM12878-XiMat	blood
43	chr17:18280600-18281400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr17:18280600-18281600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:18280600-18281600	Enhancers	Primary B cells from cord blood	blood
46	chr17:18280600-18281600	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:18280600-18281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:18280600-18281600	Enhancers	Colonic Mucosa	Colon
49	chr17:18280600-18281600	Enhancers	Fetal Stomach	stomach
50	chr17:18280600-18281600	Enhancers	HMEC	breast

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