Variant report

Variant	nsv883254
Chromosome Location	chr5:178735068-178936722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1529)
CpG islands
(count:4398)
Chromatin interactive
region (count:63)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1529 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178921008-178921368	K562	blood:	n/a	n/a
2	ARID3A	chr5:178920984-178921396	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178931255-178932227	HepG2	liver:	n/a	n/a
4	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
6	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
9	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
11	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
13	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
14	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
15	BHLHE40	chr5:178867642-178867915	K562	blood:	n/a	chr5:178867741-178867750 chr5:178867742-178867751 chr5:178867742-178867751 chr5:178867743-178867752 chr5:178867736-178867757 chr5:178867740-178867753
16	BRCA1	chr5:178932135-178932152	HepG2	liver:	n/a	n/a
17	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr5:178882860-178883255	K562	blood:	n/a	n/a
19	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
20	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
21	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
22	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
23	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
24	CEBPB	chr5:178918785-178918864	HepG2	liver:	n/a	chr5:178918811-178918822
25	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr5:178783646-178783964	Hela-S3	cervix:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
27	CEBPB	chr5:178780036-178780236	IMR90	lung:	n/a	n/a
28	CEBPB	chr5:178820041-178820297	A549	lung:	n/a	n/a
29	CEBPB	chr5:178858440-178858814	A549	lung:	n/a	n/a
30	CEBPB	chr5:178749384-178749670	IMR90	lung:	n/a	n/a
31	CEBPB	chr5:178913800-178913866	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:178819935-178820575	HCT-116	colon:	n/a	n/a
33	CEBPB	chr5:178786252-178786390	K562	blood:	n/a	chr5:178786328-178786339
34	CEBPB	chr5:178898880-178899073	MCF-7	breast:	n/a	n/a
35	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:178898849-178899101	K562	blood:	n/a	n/a
37	CEBPB	chr5:178783645-178783928	A549	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
38	CEBPB	chr5:178901823-178902191	MCF-7	breast:	n/a	n/a
39	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
40	CEBPB	chr5:178786316-178786363	A549	lung:	n/a	chr5:178786328-178786339
41	CEBPB	chr5:178901917-178902069	HepG2	liver:	n/a	n/a
42	CEBPB	chr5:178783725-178783925	K562	blood:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
43	CEBPB	chr5:178913744-178914042	IMR90	lung:	n/a	chr5:178913860-178913871
44	CEBPB	chr5:178901844-178902195	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr5:178858431-178858818	A549	lung:	n/a	n/a
46	CEBPB	chr5:178901817-178902203	MCF-7	breast:	n/a	n/a
47	CEBPB	chr5:178858452-178858788	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr5:178901832-178902156	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a
50	CEBPB	chr5:178882230-178882319	A549	lung:	n/a	n/a

(count:4398 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178753432-178753482	PANC-1	pancreas:	n/a
2	chr5:178772782-178772832	Hela-S3	cervix:	n/a
3	chr5:178771781-178771831	ECC-1	luminal epithelium:	n/a
4	chr5:178902790-178902840	Hepatocyte	liver:	n/a
5	chr5:178741205-178741255	ECC-1	luminal epithelium:	n/a
6	chr5:178789651-178789701	BE2_C	brain:	n/a
7	chr5:178753432-178753482	PANC-1	pancreas:	n/a
8	chr5:178772782-178772832	Hela-S3	cervix:	n/a
9	chr5:178771781-178771831	ECC-1	luminal epithelium:	n/a
10	chr5:178902790-178902840	Hepatocyte	liver:	n/a
11	chr5:178741205-178741255	ECC-1	luminal epithelium:	n/a
12	chr5:178789651-178789701	BE2_C	brain:	n/a
13	chr5:178770629-178770679	HCF	heart:	n/a
14	chr5:178748193-178748243	Hepatocyte	liver:	n/a
15	chr5:178902699-178902749	HIPEpiC	eye:	n/a
16	chr5:178763771-178763821	ovcar-3	ovarian:	n/a
17	chr5:178763419-178763469	HUVEC	blood vessel:	n/a
18	chr5:178771393-178771443	NB4	blood:	n/a
19	chr5:178854586-178854636	AG09309	skin:	n/a
20	chr5:178835980-178836030	HUVEC	blood vessel:	n/a
21	chr5:178854202-178854252	A549	lung:	n/a
22	chr5:178767472-178767522	HCPEpiC	choroid plexus:	n/a
23	chr5:178854265-178854315	SK-N-SH_RA	brain:	n/a
24	chr5:178882605-178882655	NB4	blood:	n/a
25	chr5:178801812-178801862	HCM	heart:	n/a
26	chr5:178771329-178771379	HAEpiC	amniotic membrane:	n/a
27	chr5:178736443-178736493	HRCEpiC	kidney:	n/a
28	chr5:178770998-178771048	Hela-S3	cervix:	n/a
29	chr5:178781563-178781613	GM06990	blood:	n/a
30	chr5:178846740-178846790	HRCEpiC	kidney:	n/a
31	chr5:178899812-178899862	SK-N-SH	brain:	n/a
32	chr5:178770998-178771048	PrEC	prostate:	n/a
33	chr5:178835885-178835935	HCF	heart:	n/a
34	chr5:178913683-178913733	IMR90	lung:	fetal
35	chr5:178772793-178772843	AG04450	lung:	fetal
36	chr5:178854758-178854808	HRE	kidney:	n/a
37	chr5:178846740-178846790	NT2-D1	testis:	n/a
38	chr5:178803207-178803257	NH-A	brain:	n/a
39	chr5:178772782-178772832	HEEpiC	esophagus:	n/a
40	chr5:178854586-178854636	Hela-S3	cervix:	n/a
41	chr5:178903087-178903137	PANC-1	pancreas:	n/a
42	chr5:178748193-178748243	HRCEpiC	kidney:	n/a
43	chr5:178781563-178781613	LNCaP	prostate:	n/a
44	chr5:178846740-178846790	HCT-116	colon:	n/a
45	chr5:178772372-178772422	HCT-116	colon:	n/a
46	chr5:178772385-178772435	AG09319	gingival:	n/a
47	chr5:178903057-178903107	HCPEpiC	choroid plexus:	n/a
48	chr5:178748193-178748243	HUVEC	blood vessel:	n/a
49	chr5:178763293-178763343	SK-N-SH	brain:	n/a
50	chr5:178800355-178800405	AG04449	skin:	fetal

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
2	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
3	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
4	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
5	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
6	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
7	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
8	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
9	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
10	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
11	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
12	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
13	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
14	chr5:178907766..178909631-chr5:178910623..178913270,3	K562	blood:
15	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
16	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
17	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
18	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
19	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
20	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:
21	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
22	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
23	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
24	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
25	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
26	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
27	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
28	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
29	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
30	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
31	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
32	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:
33	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
34	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
35	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
36	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
37	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
38	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
39	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
40	chr5:178905653..178907978-chr5:178976399..178978448,2	MCF-7	breast:
41	chr5:178921207..178921791-chr5:179095335..179095939,2	K562	blood:
42	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
43	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
44	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
45	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
46	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
47	chr5:178907766..178909631-chr5:178910623..178913270,3	K562	blood:
48	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
49	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
50	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-3	chr5:178930323-178930741	ENSG00000253652
2	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
3	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
4	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
5	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
6	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
7	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
8	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes
9	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979
10	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584
11	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105

No data

Variant related genes	Relation type
ADAMTS2	TF binding region
ENSG00000253979	TF binding region
ENSG00000250674	TF binding region
RN7SL71P	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	TF binding region
ADAMTS2	CpG island
ENSG00000253979	CpG island
ENSG00000250674	CpG island
RN7SL71P	CpG island
ENSG00000253617	CpG island
ENSG00000253163	CpG island
ENSG00000176783	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000169045	chromatin interactions

Extended variants
information (count: 8846 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:8846 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs338879	chr5:178735068-178735069	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542677295	chr5:178735082-178735083	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147504241	chr5:178735133-178735134	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs188852236	chr5:178735134-178735135	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs191771298	chr5:178735139-178735140	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs565121412	chr5:178735156-178735157	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs548589980	chr5:178735176-178735177	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs140706229	chr5:178735186-178735187	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs562664681	chr5:178735283-178735284	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144913850	chr5:178735288-178735289	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547887990	chr5:178735312-178735313	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566418539	chr5:178735341-178735342	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527442985	chr5:178735353-178735354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572005138	chr5:178735359-178735360	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34812500	chr5:178735361-178735362	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138752135	chr5:178735370-178735371	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11949748	chr5:178735396-178735397	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78644975	chr5:178735407-178735408	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs550734555	chr5:178735451-178735452	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs569466421	chr5:178735477-178735478	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs141765535	chr5:178735506-178735507	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs554667639	chr5:178735531-178735532	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573185100	chr5:178735552-178735553	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs534328571	chr5:178735626-178735627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs11749917	chr5:178735677-178735678	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528404078	chr5:178735685-178735686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs77880884	chr5:178735725-178735726	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs544436468	chr5:178735785-178735786	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs184624	chr5:178735802-178735803	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs455875	chr5:178735831-178735832	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562665561	chr5:178735865-178735866	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs193148	chr5:178735880-178735881	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs371062984	chr5:178735887-178735888	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs542106880	chr5:178735910-178735911	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs564915447	chr5:178735912-178735913	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs527278390	chr5:178735933-178735934	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs551881803	chr5:178735959-178735960	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs34247986	chr5:178735967-178735968	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs146235175	chr5:178735994-178735995	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs112794589	chr5:178735995-178735996	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs550771521	chr5:178735998-178735999	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs191450	chr5:178736020-178736021	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs115178105	chr5:178736022-178736023	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs536588664	chr5:178736038-178736039	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs114130723	chr5:178736039-178736040	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs566784309	chr5:178736080-178736081	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs534159645	chr5:178736095-178736096	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs149376	chr5:178736128-178736129	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs76274296	chr5:178736206-178736207	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs577427075	chr5:178736223-178736224	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2036 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178728000-178741000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:178729200-178741000	Weak transcription	Ovary	ovary
3	chr5:178730600-178741400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:178731200-178741000	Weak transcription	Right Atrium	heart
5	chr5:178731200-178741000	Weak transcription	HSMMtube	muscle
6	chr5:178733600-178736400	Enhancers	Adipose Nuclei	Adipose
7	chr5:178733600-178736600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:178733800-178737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:178734000-178735400	ZNF genes & repeats	Fetal Stomach	stomach
10	chr5:178734200-178740800	Weak transcription	NHLF	lung
11	chr5:178734600-178735200	Genic enhancers	Osteobl	bone
12	chr5:178734800-178735400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:178734800-178735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:178734800-178735600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr5:178734800-178741000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:178735000-178735400	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr5:178735000-178735800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:178735000-178735800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:178735000-178736200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:178735000-178738400	Enhancers	Spleen	Spleen
21	chr5:178735000-178741000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:178735000-178741000	Weak transcription	NHDF-Ad	bronchial
23	chr5:178735200-178736000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:178735200-178738400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr5:178735200-178739000	Weak transcription	Osteobl	bone
26	chr5:178735400-178736000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:178735400-178736400	Enhancers	Fetal Muscle Leg	muscle
28	chr5:178735400-178737200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:178735400-178737200	Weak transcription	Fetal Stomach	stomach
30	chr5:178735400-178739600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:178735400-178740200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:178735800-178736000	Enhancers	Right Ventricle	heart
33	chr5:178735800-178736200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:178735800-178736200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:178735800-178738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:178736000-178736600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:178736000-178737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:178736000-178739000	Weak transcription	Right Ventricle	heart
39	chr5:178736200-178739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:178736200-178740200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:178736400-178737400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:178736400-178738200	Weak transcription	Adipose Nuclei	Adipose
43	chr5:178736600-178738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:178736600-178739200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:178736600-178740400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:178737200-178737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:178737200-178738000	Enhancers	Fetal Stomach	stomach
48	chr5:178737400-178738400	Enhancers	Fetal Muscle Leg	muscle
49	chr5:178737400-178741000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:178737600-178741000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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