Variant report

Variant	nsv883222
Chromosome Location	chr5:178540975-178595870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178570524-178570804	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:178570502-178570786	K562	blood:	n/a	n/a
3	ATF2	chr5:178570450-178570822	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:178570381-178570760	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr5:178570449-178570756	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr5:178587754-178587897	K562	blood:	n/a	n/a
7	BHLHE40	chr5:178594282-178594482	K562	blood:	n/a	n/a
8	BHLHE40	chr5:178594178-178594361	GM12878	blood:	n/a	chr5:178594259-178594275
9	CBX3	chr5:178587627-178587883	K562	blood:	n/a	n/a
10	CCNT2	chr5:178594142-178594401	K562	blood:	n/a	n/a
11	CEBPB	chr5:178577826-178577892	HepG2	liver:	n/a	chr5:178577847-178577858
12	CTCF	chr5:178594151-178594350	GM12892	blood:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
13	CTCF	chr5:178570599-178570715	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:178594140-178594290	HL-60	blood:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594274-178594290 chr5:178594278-178594288
15	CTCF	chr5:178570580-178570730	HMF	breast:	n/a	n/a
16	CTCF	chr5:178594141-178594362	SK-N-SH_RA	brain:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
17	CTCF	chr5:178594015-178594067	ProgFib	skin:	n/a	n/a
18	CTCF	chr5:178593995-178594047	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr5:178560076-178560191	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:178594180-178594330	GM12871	blood:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
21	CTCF	chr5:178593831-178594749	SK-N-SH	brain:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594672-178594680 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594591-178594604 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
22	CTCF	chr5:178594052-178594461	ECC-1	luminal epithelium:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
23	CTCF	chr5:178594053-178594432	LNCaP	prostate:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
24	CTCF	chr5:178594182-178594390	A549	lung:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
25	CTCF	chr5:178594060-178594210	GM12872	blood:	n/a	n/a
26	CTCF	chr5:178570603-178570698	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:178559960-178560274	K562	blood:	n/a	n/a
28	CTCF	chr5:178594120-178594270	K562	blood:	n/a	n/a
29	CTCF	chr5:178570620-178570770	HCT-116	colon:	n/a	n/a
30	CTCF	chr5:178594220-178594370	NHLF	lung:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
31	CTCF	chr5:178570640-178570790	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr5:178560020-178560170	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr5:178587960-178588110	HepG2	liver:	n/a	n/a
34	CTCF	chr5:178594076-178594360	SK-N-SH_RA	brain:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
35	CTCF	chr5:178594120-178594270	HCFaa	heart:	n/a	n/a
36	CTCF	chr5:178570595-178570695	HepG2	liver:	n/a	n/a
37	CTCF	chr5:178588140-178588290	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr5:178594220-178594370	HCM	heart:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
39	CTCF	chr5:178594180-178594330	AG09309	skin:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
40	CTCF	chr5:178593860-178594010	GM12870	blood:	n/a	n/a
41	CTCF	chr5:178594180-178594330	HFF	foreskin:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
42	CTCF	chr5:178594180-178594330	BE2_C	brain:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
43	CTCF	chr5:178594124-178594389	A549	lung:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
44	CTCF	chr5:178593913-178594457	HCT-116	colon:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
45	CTCF	chr5:178560098-178560200	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:178594180-178594330	Hela-S3	cervix:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
47	CTCF	chr5:178570580-178570730	RPTEC	kidney:	n/a	n/a
48	CTCF	chr5:178593977-178593983	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr5:178594160-178594310	HEK293	kidney:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288
50	CTCF	chr5:178594036-178594426	Spleen_OC	spleen:	n/a	chr5:178594276-178594289 chr5:178594273-178594286 chr5:178594276-178594285 chr5:178594276-178594289 chr5:178594273-178594291 chr5:178594275-178594296 chr5:178594274-178594290 chr5:178594278-178594288

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178569292-178569342	HCT-116	colon:	n/a
2	chr5:178545115-178545165	HMEC	breast:	n/a
3	chr5:178569292-178569342	HCT-116	colon:	n/a
4	chr5:178545115-178545165	HMEC	breast:	n/a
5	chr5:178546095-178546145	HRPEpiC	eye:	n/a
6	chr5:178577498-178577548	HRE	kidney:	n/a
7	chr5:178549790-178549840	ProgFib	skin:	n/a
8	chr5:178546095-178546145	AG10803	skin:	n/a
9	chr5:178594195-178594245	AG04449	skin:	fetal
10	chr5:178594526-178594576	NHBE	bronchial:	n/a
11	chr5:178547422-178547472	SK-N-SH	brain:	n/a
12	chr5:178594097-178594147	HRE	kidney:	n/a
13	chr5:178577542-178577592	CMK	blood:	n/a
14	chr5:178564818-178564868	MCF-7	breast:	n/a
15	chr5:178554242-178554292	HL-60	blood:	n/a
16	chr5:178565721-178565771	NH-A	brain:	n/a
17	chr5:178580561-178580611	IMR90	lung:	fetal
18	chr5:178548229-178548279	AoSMC	blood vessel:	n/a
19	chr5:178580645-178580695	AG09309	skin:	n/a
20	chr5:178577542-178577592	GM12892	blood:	n/a
21	chr5:178593785-178593835	PFSK-1	brain:	n/a
22	chr5:178594097-178594147	SK-N-SH_RA	brain:	n/a
23	chr5:178549790-178549840	PrEC	prostate:	n/a
24	chr5:178545115-178545165	MCF10A-Er-Src	breast:	n/a
25	chr5:178548700-178548750	NHDF-neo	bronchial:	n/a
26	chr5:178564818-178564868	Hepatocyte	liver:	n/a
27	chr5:178565917-178565967	SK-N-SH	brain:	n/a
28	chr5:178569292-178569342	ECC-1	luminal epithelium:	n/a
29	chr5:178577542-178577592	RPTEC	kidney:	n/a
30	chr5:178565937-178565987	PrEC	prostate:	n/a
31	chr5:178577542-178577592	NB4	blood:	n/a
32	chr5:178561725-178561775	BJ	skin:	n/a
33	chr5:178577542-178577592	BJ	skin:	n/a
34	chr5:178553496-178553546	HMEC	breast:	n/a
35	chr5:178551778-178551828	PFSK-1	brain:	n/a
36	chr5:178592153-178592203	HL-60	blood:	n/a
37	chr5:178548229-178548279	AG10803	skin:	n/a
38	chr5:178594649-178594699	PANC-1	pancreas:	n/a
39	chr5:178569292-178569342	K562	blood:	n/a
40	chr5:178580645-178580695	K562	blood:	n/a
41	chr5:178561725-178561775	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:178594374-178594424	HIPEpiC	eye:	n/a
43	chr5:178577570-178577620	SKMC	muscle:	n/a
44	chr5:178565721-178565771	AG09319	gingival:	n/a
45	chr5:178565001-178565051	HCPEpiC	choroid plexus:	n/a
46	chr5:178580561-178580611	U87	brain:	n/a
47	chr5:178551993-178552043	HNPCEpiC	eye:	n/a
48	chr5:178567126-178567176	NHDF-neo	bronchial:	n/a
49	chr5:178549790-178549840	GM06990	blood:	n/a
50	chr5:178594990-178595040	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:
2	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:
3	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
4	chr5:178549170..178551463-chr5:178552754..178555057,2	K562	blood:
5	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
6	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
7	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
8	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
9	chr5:178538154..178541379-chr5:178543841..178547566,3	MCF-7	breast:
10	chr5:178355351..178357900-chr5:178539539..178541563,2	K562	blood:
11	chr5:178559035..178560886-chr5:178563328..178565903,2	K562	blood:
12	chr5:178542353..178545239-chr5:178546502..178548105,2	K562	blood:
13	chr5:178579999..178581669-chr5:178587423..178589774,2	MCF-7	breast:
14	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
15	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
16	chr1:149223586..149225383-chr5:178547000..178548500,2	MCF-7	breast:
17	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
18	chr5:178542353..178545239-chr5:178546502..178548105,2	K562	blood:
19	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:
20	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
21	chr5:178545005..178546733-chr5:178547138..178549506,2	MCF-7	breast:
22	chr3:64008784..64009514-chr5:178540831..178541760,2	MCF-7	breast:
23	chr1:149223402..149225514-chr5:178546980..178548500,3	MCF-7	breast:
24	chr5:178538154..178541379-chr5:178543841..178547566,3	MCF-7	breast:
25	chr5:178486462..178489225-chr5:178551148..178554695,3	MCF-7	breast:
26	chr5:178483751..178486234-chr5:178558590..178560353,2	MCF-7	breast:
27	chr5:178559035..178560886-chr5:178563328..178565903,2	K562	blood:
28	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
29	chr1:149223934..149224436-chr5:178546980..178547500,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTS2	TF binding region
ADAMTS2	CpG island
ENSG00000206737	chromatin interactions
ENSG00000177932	chromatin interactions
ENSG00000087116	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 2589 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1054480	chr5:178540975-178540976	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117187367	chr5:178540998-178540999	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141541318	chr5:178541001-178541002	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531168228	chr5:178541012-178541013	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190267616	chr5:178541023-178541024	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34437036	chr5:178541024-178541025	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200636359	chr5:178541027-178541028	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535017530	chr5:178541036-178541037	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370806281	chr5:178541049-178541050	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200982805	chr5:178541055-178541056	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539571417	chr5:178541063-178541064	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs267600580	chr5:178541074-178541075	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571329157	chr5:178541084-178541085	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375235017	chr5:178541101-178541102	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545409845	chr5:178541107-178541108	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368462217	chr5:178541124-178541125	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557070498	chr5:178541128-178541129	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372364065	chr5:178541135-178541136	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201343773	chr5:178541137-178541138	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148717330	chr5:178541152-178541153	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375463371	chr5:178541159-178541160	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200022037	chr5:178541161-178541162	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79606317	chr5:178541162-178541163	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372096858	chr5:178541167-178541168	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73806887	chr5:178541225-178541226	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374842471	chr5:178541262-178541263	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143326244	chr5:178541285-178541286	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540171408	chr5:178541364-178541365	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540882271	chr5:178541415-178541416	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142299438	chr5:178541431-178541432	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576939062	chr5:178541457-178541458	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544308794	chr5:178541513-178541514	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562613854	chr5:178541574-178541575	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564500425	chr5:178541631-178541632	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1664689	chr5:178541634-178541635	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371735898	chr5:178541646-178541647	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554173382	chr5:178541671-178541672	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577512382	chr5:178541702-178541703	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114354284	chr5:178541721-178541722	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200336475	chr5:178541821-178541822	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78433007	chr5:178541829-178541830	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1299833	chr5:178541852-178541853	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532279254	chr5:178541865-178541866	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528754758	chr5:178541867-178541868	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546917343	chr5:178541889-178541890	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562957610	chr5:178541895-178541896	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4701048	chr5:178541941-178541942	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs550659291	chr5:178541949-178541950	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569290125	chr5:178541953-178541954	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536355170	chr5:178541986-178541987	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178544000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:178538000-178544400	ZNF genes & repeats	Liver	Liver
4	chr5:178538000-178550000	Strong transcription	Osteobl	bone
5	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:178538400-178542800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178538400-178544000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr5:178538600-178542800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178538600-178543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:178539000-178541600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr5:178539000-178543000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:178539400-178544400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:178539400-178545600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr5:178539600-178542400	ZNF genes & repeats	Spleen	Spleen
16	chr5:178539800-178542800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr5:178540000-178541800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr5:178540200-178541200	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr5:178540200-178542600	Strong transcription	HSMMtube	muscle
20	chr5:178540200-178543400	ZNF genes & repeats	Ovary	ovary
21	chr5:178540200-178543600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr5:178540200-178543600	ZNF genes & repeats	Fetal Lung	lung
23	chr5:178540400-178541000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr5:178540400-178541400	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr5:178540400-178541600	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr5:178540400-178544000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:178540600-178541400	Strong transcription	NHLF	lung
28	chr5:178540600-178542000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:178540600-178543800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr5:178540800-178541600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
31	chr5:178540800-178541600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr5:178541000-178541400	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr5:178541000-178541400	ZNF genes & repeats	Fetal Brain Male	brain
34	chr5:178541000-178541600	ZNF genes & repeats	Aorta	Aorta
35	chr5:178541000-178547600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:178541400-178542200	ZNF genes & repeats	Gastric	stomach
37	chr5:178541400-178547600	Weak transcription	NHLF	lung
38	chr5:178542000-178542200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
39	chr5:178542200-178542800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:178542600-178545800	Weak transcription	HSMMtube	muscle
41	chr5:178542800-178545200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:178542800-178547600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:178543000-178543400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:178543400-178543600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:178543400-178547600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:178543400-178547800	Weak transcription	Ovary	ovary
47	chr5:178543600-178546800	Weak transcription	Adipose Nuclei	Adipose
48	chr5:178543600-178548400	Weak transcription	Fetal Lung	lung
49	chr5:178543800-178548600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:178544000-178544400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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