Variant report

Variant	nsv531996
Chromosome Location	chr5:178669297-178989687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3984)
CpG islands
(count:8373)
Chromatin interactive
region (count:175)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3984 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178931255-178932227	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:178920984-178921396	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178977115-178977357	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:178977590-178977818	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:178921008-178921368	K562	blood:	n/a	n/a
6	ARID3A	chr5:178985842-178986538	HepG2	liver:	n/a	n/a
7	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
8	ATF2	chr5:178985934-178986763	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:178976968-178977468	GM12878	blood:	n/a	n/a
10	ATF2	chr5:178960873-178961287	GM12878	blood:	n/a	n/a
11	ATF2	chr5:178688256-178688623	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:178986020-178986776	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:178971353-178972009	GM12878	blood:	n/a	n/a
15	ATF2	chr5:178977014-178977777	GM12878	blood:	n/a	n/a
16	ATF2	chr5:178971356-178971893	GM12878	blood:	n/a	n/a
17	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
18	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
20	BACH1	chr5:178976363-178976432	K562	blood:	n/a	n/a
21	BACH1	chr5:178957142-178957774	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr5:178977696-178978347	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:178688361-178688719	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr5:178945312-178945640	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:178971440-178971812	GM12878	blood:	n/a	chr5:178971650-178971659
28	BCL11A	chr5:178971422-178971880	GM12878	blood:	n/a	chr5:178971650-178971659
29	BCL11A	chr5:178945316-178945685	GM12878	blood:	n/a	n/a
30	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
31	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
32	BCL3	chr5:178985836-178986998	A549	lung:	n/a	n/a
33	BCL3	chr5:178986050-178987128	A549	lung:	n/a	n/a
34	BCLAF1	chr5:178977522-178978403	GM12878	blood:	n/a	chr5:178978060-178978073 chr5:178978272-178978285 chr5:178978064-178978077
35	BCLAF1	chr5:178971380-178972055	GM12878	blood:	n/a	chr5:178971650-178971659
36	BCLAF1	chr5:178977094-178977496	GM12878	blood:	n/a	chr5:178977430-178977439
37	BHLHE40	chr5:178971425-178971980	GM12878	blood:	n/a	n/a
38	BHLHE40	chr5:178960996-178961233	GM12878	blood:	n/a	n/a
39	BHLHE40	chr5:178695327-178695745	HepG2	liver:	n/a	n/a
40	BHLHE40	chr5:178977555-178978270	HepG2	liver:	n/a	chr5:178978066-178978082 chr5:178978012-178978028
41	BHLHE40	chr5:178977025-178978380	K562	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
42	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
43	BHLHE40	chr5:178967579-178967940	HepG2	liver:	n/a	n/a
44	BHLHE40	chr5:178703446-178703646	K562	blood:	n/a	n/a
45	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
46	BHLHE40	chr5:178976912-178978367	GM12878	blood:	n/a	chr5:178978066-178978082 chr5:178978012-178978028 chr5:178978259-178978275
47	BHLHE40	chr5:178712032-178712059	K562	blood:	n/a	n/a
48	BHLHE40	chr5:178868515-178868770	K562	blood:	n/a	chr5:178868635-178868644 chr5:178868636-178868645 chr5:178868634-178868647 chr5:178868630-178868651 chr5:178868636-178868645 chr5:178868637-178868646
49	BHLHE40	chr5:178703014-178703214	K562	blood:	n/a	n/a
50	BHLHE40	chr5:178722893-178723057	K562	blood:	n/a	chr5:178723031-178723040 chr5:178723031-178723040

(count:8373 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178882605-178882655	HepG2	liver:	n/a
2	chr5:178977375-178977425	NT2-D1	testis:	n/a
3	chr5:178774760-178774810	NT2-D1	testis:	n/a
4	chr5:178772793-178772843	BJ	skin:	n/a
5	chr5:178801812-178801862	HCM	heart:	n/a
6	chr5:178688308-178688358	NH-A	brain:	n/a
7	chr5:178986830-178986880	HMEC	breast:	n/a
8	chr5:178835980-178836030	NHDF-neo	bronchial:	n/a
9	chr5:178801332-178801382	NHBE	bronchial:	n/a
10	chr5:178773355-178773405	HNPCEpiC	eye:	n/a
11	chr5:178986726-178986776	K562	blood:	n/a
12	chr5:178903057-178903107	GM12891	blood:	n/a
13	chr5:178770629-178770679	AoSMC	blood vessel:	n/a
14	chr5:178688308-178688358	ovcar-3	ovarian:	n/a
15	chr5:178950855-178950905	HCM	heart:	n/a
16	chr5:178801647-178801697	PFSK-1	brain:	n/a
17	chr5:178882605-178882655	HepG2	liver:	n/a
18	chr5:178977375-178977425	NT2-D1	testis:	n/a
19	chr5:178774760-178774810	NT2-D1	testis:	n/a
20	chr5:178772793-178772843	BJ	skin:	n/a
21	chr5:178801812-178801862	HCM	heart:	n/a
22	chr5:178688308-178688358	NH-A	brain:	n/a
23	chr5:178986830-178986880	HMEC	breast:	n/a
24	chr5:178835980-178836030	NHDF-neo	bronchial:	n/a
25	chr5:178801332-178801382	NHBE	bronchial:	n/a
26	chr5:178773355-178773405	HNPCEpiC	eye:	n/a
27	chr5:178986726-178986776	K562	blood:	n/a
28	chr5:178903057-178903107	GM12891	blood:	n/a
29	chr5:178770629-178770679	AoSMC	blood vessel:	n/a
30	chr5:178688308-178688358	ovcar-3	ovarian:	n/a
31	chr5:178950855-178950905	HCM	heart:	n/a
32	chr5:178801647-178801697	PFSK-1	brain:	n/a
33	chr5:178741283-178741333	ProgFib	skin:	n/a
34	chr5:178982556-178982606	HL-60	blood:	n/a
35	chr5:178784097-178784147	ovcar-3	ovarian:	n/a
36	chr5:178684658-178684708	HMEC	breast:	n/a
37	chr5:178685787-178685837	GM19239	blood:	n/a
38	chr5:178808980-178809030	ECC-1	luminal epithelium:	n/a
39	chr5:178882763-178882813	AG09309	skin:	n/a
40	chr5:178973820-178973870	HCM	heart:	n/a
41	chr5:178773355-178773405	SAEC	small airway:	n/a
42	chr5:178854202-178854252	GM12878	blood:	n/a
43	chr5:178776243-178776293	HIPEpiC	eye:	n/a
44	chr5:178957434-178957484	AG04449	skin:	fetal
45	chr5:178899812-178899862	AG10803	skin:	n/a
46	chr5:178902956-178903006	GM19239	blood:	n/a
47	chr5:178977406-178977456	NT2-D1	testis:	n/a
48	chr5:178688308-178688358	HIPEpiC	eye:	n/a
49	chr5:178771393-178771443	CMK	blood:	n/a
50	chr5:178741283-178741333	AoSMC	blood vessel:	n/a

(count:175 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
2	chr5:178960272..178962115-chr5:178969166..178970829,2	MCF-7	breast:
3	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
4	chr5:178984896..178986468-chr5:179223868..179225684,2	MCF-7	breast:
5	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
6	chr5:178982934..178985451-chr5:179036566..179039640,3	K562	blood:
7	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
8	chr5:178967564..178969306-chr5:178978047..178979581,2	K562	blood:
9	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
10	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
11	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
12	chr5:178967735..178971439-chr5:178974886..178978659,7	MCF-7	breast:
13	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
14	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
15	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
16	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:
17	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
18	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
19	chr5:178946216..178946980-chr5:179095346..179096018,3	MCF-7	breast:
20	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
21	chr5:178986726..178988892-chr5:179104044..179106638,2	K562	blood:
22	chr5:178975801..178977799-chr5:178987617..178990258,3	K562	blood:
23	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
24	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
25	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
26	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
27	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
28	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
29	chr5:178981782..178983559-chr5:178998257..179000519,2	K562	blood:
30	chr5:178976021..178979527-chr5:178979544..178984972,9	K562	blood:
31	chr5:178969062..178971266-chr5:178976850..178979130,2	K562	blood:
32	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
33	chr5:178966233..178969209-chr5:178970782..178972509,2	MCF-7	breast:
34	chr5:178976811..178980871-chr5:179039605..179043375,3	K562	blood:
35	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
36	chr5:178979685..178981544-chr5:178981841..178984975,3	K562	blood:
37	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
38	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
39	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
40	chr5:178976299..178979036-chr5:178987617..178989903,2	K562	blood:
41	chr5:178958919..178961962-chr5:178962607..178965657,3	K562	blood:
42	chr5:178976850..178979581-chr5:179125172..179127163,2	K562	blood:
43	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
44	chr5:178958501..178962397-chr5:178966368..178969379,3	K562	blood:
45	chr5:178905653..178907978-chr5:178976399..178978448,2	MCF-7	breast:
46	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
47	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
48	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
49	chr5:178219841..178220793-chr5:178920740..178921735,2	MCF-7	breast:
50	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUFY1-4	chr5:178950374-178950475	NONHSAT105587
2	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105587
3	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
4	lnc-HNRNPH1-3	chr5:178942465-178942580	ENSG00000253652
5	lnc-HNRNPH1-2	chr5:178949497-178950926	ENSG00000251657
6	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
7	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
8	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
9	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes
10	lnc-RUFY1-4	chr5:178950418-178950475	NONHSAT105586
11	lnc-RUFY1-3	chr5:178971224-178972983	NONHSAT105589
12	lnc-HNRNPH1-3	chr5:178930323-178930741	ENSG00000253652
13	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105586
14	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
15	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
16	lnc-HNRNPH1-4	chr5:178975273-178975507	expReg_chr5_10798_-
17	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979
18	lnc-HNRNPH1-2	chr5:178951450-178952173	ENSG00000251657
19	lnc-RUFY1-4	chr5:178949401-178949705	NONHSAT105586
20	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
21	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584

No data

Variant related genes	Relation type
ENSG00000253163	TF binding region
ADAMTS2	TF binding region
ENSG00000251545	TF binding region
ENSG00000253979	TF binding region
ENSG00000253520	TF binding region
ENSG00000250674	TF binding region
RUFY1	TF binding region
ENSG00000253652	TF binding region
RN7SL71P	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	CpG island
ADAMTS2	CpG island
ENSG00000251545	CpG island
ENSG00000253979	CpG island
ENSG00000253520	CpG island
ENSG00000250674	CpG island
RUFY1	CpG island
ENSG00000253652	CpG island
RN7SL71P	CpG island
ENSG00000253617	CpG island
ENSG00000127022	chromatin interactions
ENSG00000259172	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000221394	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000249140	chromatin interactions
ENSG00000244945	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000251545	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000253520	chromatin interactions
ENSG00000167716	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000227963	chromatin interactions
PIGU	miRNA target sites
GAPVD1	miRNA target sites

Extended variants
information (count: 14267 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:14267 , 50 per page) page: 1 2 3 4 5 6 7 ... 286

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs338875	chr5:178669297-178669298	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571872997	chr5:178669308-178669309	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539336218	chr5:178669321-178669322	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs557430199	chr5:178669360-178669361	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs4700789	chr5:178669361-178669362	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536751038	chr5:178669384-178669385	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs546951539	chr5:178669395-178669396	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs1385803	chr5:178669413-178669414	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs1385804	chr5:178669419-178669420	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs554740919	chr5:178669473-178669474	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536449553	chr5:178669550-178669551	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs573011836	chr5:178669557-178669558	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs147955440	chr5:178669609-178669610	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs540089890	chr5:178669677-178669678	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs558697992	chr5:178669685-178669686	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs576775669	chr5:178669718-178669719	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs544091949	chr5:178669721-178669722	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs112668631	chr5:178669746-178669747	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs565409938	chr5:178669752-178669753	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs450470	chr5:178669755-178669756	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs396474	chr5:178669788-178669789	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562154136	chr5:178669810-178669811	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs140571642	chr5:178669821-178669822	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs338876	chr5:178669870-178669871	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11738217	chr5:178669893-178669894	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150451460	chr5:178669919-178669920	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs541219634	chr5:178669920-178669921	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs564478299	chr5:178669961-178669962	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs571799469	chr5:178669992-178669993	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs532861997	chr5:178669999-178670000	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs145526948	chr5:178670036-178670037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183159159	chr5:178670078-178670079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536616104	chr5:178670079-178670080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566874413	chr5:178670152-178670153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538617259	chr5:178670153-178670154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397882816	chr5:178670166-178670167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35497221	chr5:178670167-178670168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74784898	chr5:178670177-178670178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566882688	chr5:178670182-178670183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371774081	chr5:178670201-178670202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534297573	chr5:178670206-178670207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs187447631	chr5:178670355-178670356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558512266	chr5:178670402-178670403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532245826	chr5:178670433-178670434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576589290	chr5:178670435-178670436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544121470	chr5:178670465-178670466	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11249618	chr5:178670507-178670508	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191941886	chr5:178670515-178670516	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184920788	chr5:178670527-178670528	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560089469	chr5:178670615-178670616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5384 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178652000-178670000	Weak transcription	NHLF	lung
2	chr5:178652400-178670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:178656000-178671000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:178659400-178670200	Weak transcription	HSMM	muscle
5	chr5:178659800-178669800	Weak transcription	HSMMtube	muscle
6	chr5:178661200-178670200	Weak transcription	Ovary	ovary
7	chr5:178664600-178669800	Weak transcription	Fetal Lung	lung
8	chr5:178665600-178669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178665600-178670200	Weak transcription	Osteobl	bone
10	chr5:178666000-178670400	Weak transcription	Fetal Stomach	stomach
11	chr5:178666400-178670600	Enhancers	Spleen	Spleen
12	chr5:178666800-178669800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:178667000-178672600	Enhancers	Fetal Muscle Leg	muscle
14	chr5:178667400-178670000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:178667400-178672400	Enhancers	Adipose Nuclei	Adipose
16	chr5:178667600-178669400	Enhancers	Lung	lung
17	chr5:178667600-178670000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:178667600-178670800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178667800-178670000	Enhancers	Right Atrium	heart
20	chr5:178667800-178670200	Enhancers	NHDF-Ad	bronchial
21	chr5:178668000-178670000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:178668000-178670000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr5:178668200-178670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:178668200-178670400	Enhancers	Brain Anterior Caudate	brain
25	chr5:178668200-178670400	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:178668200-178671000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:178668200-178671800	Enhancers	Brain Substantia Nigra	brain
28	chr5:178668400-178669800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:178668400-178670400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:178668400-178671400	Enhancers	Brain Hippocampus Middle	brain
31	chr5:178668600-178669800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:178668600-178670200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:178668800-178670200	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:178668800-178670600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:178668800-178672200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:178669000-178669400	Enhancers	Fetal Brain Female	brain
37	chr5:178669000-178669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:178669000-178670200	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:178669600-178670000	Enhancers	Placenta	Placenta
40	chr5:178669600-178670600	Enhancers	Brain Angular Gyrus	brain
41	chr5:178669600-178671200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:178669800-178670000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:178669800-178670000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:178669800-178670000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:178669800-178670000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr5:178669800-178670400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:178669800-178670600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:178669800-178670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:178669800-178670600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:178669800-178670800	Enhancers	H1 Cell Line	embryonic stem cell

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