Variant report

Variant	nsv823357
Chromosome Location	chr5:179046318-179058193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1243)
CpG islands
(count:1288)
Chromatin interactive
region (count:112)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1243 , 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	chr5:179050384-179051395	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179049834-179049852	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179050517-179051101	K562	blood:	n/a	n/a
4	ARID3A	chr5:179047999-179048543	K562	blood:	n/a	n/a
5	ARID3A	chr5:179047974-179048174	HepG2	liver:	n/a	n/a
6	ATF1	chr5:179047959-179048200	K562	blood:	n/a	n/a
7	ATF1	chr5:179050468-179051119	K562	blood:	n/a	n/a
8	ATF2	chr5:179050264-179051406	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:179050213-179051373	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:179047633-179048223	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:179047366-179048473	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:179049574-179050244	GM12878	blood:	n/a	n/a
13	ATF2	chr5:179051421-179051783	GM12878	blood:	n/a	n/a
14	ATF2	chr5:179050344-179051153	GM12878	blood:	n/a	n/a
15	ATF2	chr5:179049625-179049972	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:179050391-179050766	GM12878	blood:	n/a	n/a
17	ATF3	chr5:179050328-179050988	A549	lung:	n/a	chr5:179050860-179050868 chr5:179050453-179050462 chr5:179050752-179050763 chr5:179050752-179050763
18	ATF3	chr5:179049703-179049934	K562	blood:	n/a	n/a
19	ATF3	chr5:179050495-179050833	K562	blood:	n/a	chr5:179050752-179050763 chr5:179050752-179050763
20	ATF3	chr5:179050321-179051196	A549	lung:	n/a	chr5:179050860-179050868 chr5:179050453-179050462 chr5:179051127-179051136 chr5:179050752-179050763 chr5:179050752-179050763 chr5:179051153-179051162
21	ATF3	chr5:179050487-179050999	K562	blood:	n/a	chr5:179050860-179050868 chr5:179050752-179050763 chr5:179050752-179050763
22	BACH1	chr5:179047959-179048059	K562	blood:	n/a	n/a
23	BACH1	chr5:179050488-179051342	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr5:179050135-179050722	K562	blood:	n/a	n/a
25	BCL3	chr5:179049584-179051163	A549	lung:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
26	BCL3	chr5:179049851-179051235	A549	lung:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
27	BCLAF1	chr5:179049937-179050978	GM12878	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
28	BCLAF1	chr5:179049582-179051089	K562	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
29	BCLAF1	chr5:179049980-179051777	GM12878	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
30	BHLHE40	chr5:179049747-179051701	GM12878	blood:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
31	BHLHE40	chr5:179050428-179052142	K562	blood:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
32	BHLHE40	chr5:179050447-179051710	HepG2	liver:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
33	BHLHE40	chr5:179049688-179050173	K562	blood:	n/a	n/a
34	BRCA1	chr5:179050071-179050249	HepG2	liver:	n/a	n/a
35	BRCA1	chr5:179048136-179048400	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr5:179050491-179051131	GM12878	blood:	n/a	n/a
37	BRCA1	chr5:179050451-179050813	HepG2	liver:	n/a	n/a
38	BRCA1	chr5:179050560-179051215	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr5:179049779-179051759	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr5:179050333-179052032	K562	blood:	n/a	n/a
41	CBX3	chr5:179049666-179050285	K562	blood:	n/a	n/a
42	CCNT2	chr5:179047916-179048204	K562	blood:	n/a	n/a
43	CCNT2	chr5:179049700-179051739	K562	blood:	n/a	chr5:179050989-179050998
44	CEBPB	chr5:179050426-179051122	MCF-7	breast:	n/a	n/a
45	CEBPB	chr5:179049177-179050069	Hela-S3	cervix:	n/a	chr5:179049837-179049848 chr5:179049839-179049848 chr5:179049326-179049337 chr5:179049839-179049848 chr5:179049324-179049337 chr5:179049839-179049848
46	CEBPB	chr5:179050455-179051021	HepG2	liver:	n/a	n/a
47	CEBPB	chr5:179050223-179051184	GM12878	blood:	n/a	n/a
48	CEBPB	chr5:179049527-179050283	MCF-7	breast:	n/a	chr5:179049837-179049848 chr5:179049839-179049848 chr5:179049839-179049848 chr5:179049839-179049848
49	CEBPB	chr5:179047336-179047683	IMR90	lung:	n/a	chr5:179047501-179047518
50	CEBPB	chr5:179050432-179050965	K562	blood:	n/a	n/a

(count:1288 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179050722-179050772	LNCaP	prostate:	n/a
2	chr5:179050811-179050861	AG09309	skin:	n/a
3	chr5:179049816-179049866	CMK	blood:	n/a
4	chr5:179049816-179049866	ECC-1	luminal epithelium:	n/a
5	chr5:179050752-179050802	Hepatocyte	liver:	n/a
6	chr5:179050722-179050772	ovcar-3	ovarian:	n/a
7	chr5:179046350-179046400	HMEC	breast:	n/a
8	chr5:179050722-179050772	LNCaP	prostate:	n/a
9	chr5:179050811-179050861	AG09309	skin:	n/a
10	chr5:179049816-179049866	CMK	blood:	n/a
11	chr5:179049816-179049866	ECC-1	luminal epithelium:	n/a
12	chr5:179050752-179050802	Hepatocyte	liver:	n/a
13	chr5:179050722-179050772	ovcar-3	ovarian:	n/a
14	chr5:179046350-179046400	HMEC	breast:	n/a
15	chr5:179048527-179048577	SAEC	small airway:	n/a
16	chr5:179050688-179050738	Hepatocyte	liver:	n/a
17	chr5:179050688-179050738	AG04450	lung:	fetal
18	chr5:179051568-179051618	LNCaP	prostate:	n/a
19	chr5:179050811-179050861	SK-N-MC	brain:	n/a
20	chr5:179048527-179048577	Caco-2	colon:	n/a
21	chr5:179056596-179056646	NHBE	bronchial:	n/a
22	chr5:179048967-179049017	HEK293	kidney:	embryo
23	chr5:179051568-179051618	ovcar-3	ovarian:	n/a
24	chr5:179056596-179056646	GM06990	blood:	n/a
25	chr5:179050666-179050716	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:179054073-179054123	NB4	blood:	n/a
27	chr5:179050530-179050580	HNPCEpiC	eye:	n/a
28	chr5:179048527-179048577	HEEpiC	esophagus:	n/a
29	chr5:179050530-179050580	SAEC	small airway:	n/a
30	chr5:179050722-179050772	Hepatocyte	liver:	n/a
31	chr5:179050066-179050116	SK-N-SH	brain:	n/a
32	chr5:179051885-179051935	HUVEC	blood vessel:	n/a
33	chr5:179050811-179050861	AG04450	lung:	fetal
34	chr5:179050722-179050772	HNPCEpiC	eye:	n/a
35	chr5:179048527-179048577	CMK	blood:	n/a
36	chr5:179049816-179049866	T-47D	breast:	n/a
37	chr5:179050864-179050914	AG04449	skin:	fetal
38	chr5:179050826-179050876	PFSK-1	brain:	n/a
39	chr5:179049997-179050047	HCT-116	colon:	n/a
40	chr5:179050864-179050914	HCT-116	colon:	n/a
41	chr5:179049997-179050047	HNPCEpiC	eye:	n/a
42	chr5:179050826-179050876	GM06990	blood:	n/a
43	chr5:179050814-179050864	HRPEpiC	eye:	n/a
44	chr5:179049997-179050047	CMK	blood:	n/a
45	chr5:179050814-179050864	HCT-116	colon:	n/a
46	chr5:179050666-179050716	HL-60	blood:	n/a
47	chr5:179049816-179049866	SK-N-MC	brain:	n/a
48	chr5:179051583-179051633	HRE	kidney:	n/a
49	chr5:179049997-179050047	Hepatocyte	liver:	n/a
50	chr5:179051583-179051633	SKMC	muscle:	n/a

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr15:69753495..69755844-chr5:179048677..179051620,2	MCF-7	breast:
2	chr15:44084225..44084938-chr5:179049834..179050786,2	Hela-S3	cervix:
3	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
4	chr11:62609117..62609653-chr5:179050747..179051683,2	NB4	blood:
5	chr19:17666398..17667291-chr5:179049846..179050455,2	Hela-S3	cervix:
6	chr14:75745270..75745773-chr5:179050980..179051651,2	Hela-S3	cervix:
7	chr15:41836411..41836975-chr5:179050328..179051025,2	HCT-116	colon:
8	chr17:73178705..73180897-chr5:179050924..179052648,2	MCF-7	breast:
9	chr15:73976209..73977099-chr5:179050114..179050702,2	Hela-S3	cervix:
10	chr1:44411130..44412112-chr5:179050533..179051528,2	Hela-S3	cervix:
11	chr5:179050402..179051097-chr7:43965768..43966440,3	Hela-S3	cervix:
12	chr15:72523714..72524571-chr5:179050555..179051464,2	Hela-S3	cervix:
13	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
14	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
15	chr17:80415890..80416981-chr5:179050464..179051395,3	Hela-S3	cervix:
16	chr5:179049533..179051991-chr5:180649079..180651158,2	MCF-7	breast:
17	chr3:129611962..129612663-chr5:179050573..179051109,2	HCT-116	colon:
18	chr1:145382409..145383592-chr5:179050098..179050846,3	Hela-S3	cervix:
19	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
20	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
21	chr5:179047581..179051358-chr5:179102429..179108878,16	K562	blood:
22	chr15:101834614..101835570-chr5:179050040..179051063,4	Hela-S3	cervix:
23	chr5:179054324..179056626-chr5:179057842..179060388,3	MCF-7	breast:
24	chr17:19880651..19881367-chr5:179050152..179050692,2	Hela-S3	cervix:
25	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
26	chr5:179050419..179051239-chr6:136610738..136611684,2	Hela-S3	cervix:
27	chr14:23754854..23755482-chr5:179050344..179050925,2	Hela-S3	cervix:
28	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
29	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:
30	chr16:87350846..87351666-chr5:179050646..179051491,2	NB4	blood:
31	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
32	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
33	chr5:179047831..179051506-chr5:179245810..179250436,9	MCF-7	breast:
34	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
35	chr5:179049252..179051807-chr5:179078099..179079783,3	MCF-7	breast:
36	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
37	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
38	chr5:179050226..179050844-chr9:131266873..131267568,2	Hela-S3	cervix:
39	chr5:179050141..179051030-chr9:114245969..114246821,2	Hela-S3	cervix:
40	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
41	chr5:179048811..179053260-chr5:179101652..179108160,8	MCF-7	breast:
42	chr1:52521773..52522432-chr5:179050336..179051228,2	Hela-S3	cervix:
43	chr17:6544136..6544702-chr5:179049920..179051003,3	Hela-S3	cervix:
44	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
45	chr17:25620732..25621732-chr5:179050078..179050762,2	Hela-S3	cervix:
46	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:
47	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:
48	chr10:32734712..32735666-chr5:179050160..179050931,2	Hela-S3	cervix:
49	chr11:67777145..67777897-chr5:179050213..179051026,2	Hela-S3	cervix:
50	chr5:179050119..179051814-chr5:179134702..179137215,4	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
HNRNPH1	CpG island
ENSG00000227540	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000085274	chromatin interactions
ENSG00000259215	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000103249	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000250999	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000116199	chromatin interactions
ENSG00000129235	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000136813	chromatin interactions
ENSG00000165182	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000228259	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000157216	chromatin interactions
ENSG00000103855	chromatin interactions
ENSG00000163681	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000115241	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000271969	chromatin interactions
ENSG00000245750	chromatin interactions
ENSG00000056277	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000247363	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000111581	chromatin interactions
ENSG00000119392	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000134644	chromatin interactions
ENSG00000198948	chromatin interactions
ENSG00000240063	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000146457	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000058063	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000215271	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000136003	chromatin interactions
ENSG00000130309	chromatin interactions
ENSG00000166482	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000134717	chromatin interactions
ENSG00000157184	chromatin interactions
ENSG00000106608	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000117862	chromatin interactions
ENSG00000216937	chromatin interactions
ENSG00000119487	chromatin interactions
ENSG00000267498	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000237950	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000078967	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000182180	chromatin interactions
ENSG00000184831	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000108599	chromatin interactions
ENSG00000172765	chromatin interactions
ENSG00000160131	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000188612	chromatin interactions
ENSG00000198920	chromatin interactions
ENSG00000125247	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000204659	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368255507	chr5:179046442-179046443	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186428663	chr5:179046492-179046493	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368058238	chr5:179046521-179046522	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533418073	chr5:179046538-179046539	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542036181	chr5:179046540-179046541	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371189831	chr5:179046545-179046546	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552067275	chr5:179046605-179046606	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563702198	chr5:179046609-179046610	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189316574	chr5:179046612-179046613	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373213145	chr5:179046625-179046626	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549639774	chr5:179046673-179046674	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78103865	chr5:179046683-179046684	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs180746004	chr5:179046705-179046706	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527562056	chr5:179046713-179046714	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187310566	chr5:179046776-179046777	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571633992	chr5:179046828-179046829	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202084730	chr5:179046830-179046831	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547411178	chr5:179046845-179046846	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190857613	chr5:179046847-179046848	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183077440	chr5:179046898-179046899	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564077469	chr5:179046939-179046940	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116538409	chr5:179046956-179046957	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545426554	chr5:179047068-179047069	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141164897	chr5:179047071-179047072	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs574181116	chr5:179047104-179047105	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150716709	chr5:179047117-179047118	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs4608884	chr5:179047143-179047144	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564691663	chr5:179047149-179047150	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs576795064	chr5:179047156-179047157	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs7727256	chr5:179047199-179047200	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186263778	chr5:179047208-179047209	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs10069599	chr5:179047209-179047210	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs36058080	chr5:179047220-179047221	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543198070	chr5:179047227-179047228	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs561475731	chr5:179047244-179047245	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs528562928	chr5:179047246-179047247	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs547140446	chr5:179047284-179047285	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs576874727	chr5:179047337-179047338	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs370685360	chr5:179047338-179047339	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs571680781	chr5:179047380-179047381	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs77376842	chr5:179047389-179047390	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs116087223	chr5:179047408-179047409	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs569127902	chr5:179047414-179047415	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs190541159	chr5:179047434-179047435	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs139205593	chr5:179047441-179047442	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs554300511	chr5:179047455-179047456	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs566345172	chr5:179047474-179047475	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs549142344	chr5:179047479-179047480	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs566174278	chr5:179047500-179047501	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs550286900	chr5:179047507-179047508	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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	18451855	CNVD

Chromatin state (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
5	chr5:179037600-179046400	Strong transcription	Spleen	Spleen
6	chr5:179039800-179046800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:179042200-179046400	Strong transcription	Esophagus	oesophagus
11	chr5:179043000-179047000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:179044400-179046600	Genic enhancers	Left Ventricle	heart
13	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr5:179044600-179046600	Genic enhancers	Small Intestine	intestine
17	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
18	chr5:179044800-179046600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
20	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:179045000-179046400	Genic enhancers	Pancreas	Pancrea
23	chr5:179045000-179046600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
24	chr5:179045000-179046600	Genic enhancers	Placenta Amnion	Placenta Amnion
25	chr5:179045000-179047000	Genic enhancers	Brain Cingulate Gyrus	brain
26	chr5:179045000-179047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:179045000-179047400	Genic enhancers	Brain Substantia Nigra	brain
28	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:179045200-179046800	Enhancers	Fetal Heart	heart
30	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
31	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
32	chr5:179045400-179046400	Weak transcription	Aorta	Aorta
33	chr5:179045400-179046400	Strong transcription	Gastric	stomach
34	chr5:179045400-179047000	Genic enhancers	Placenta	Placenta
35	chr5:179045400-179047400	Weak transcription	Lung	lung
36	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:179045600-179046400	Genic enhancers	Stomach Mucosa	stomach
39	chr5:179045600-179046600	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
42	chr5:179045600-179047000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179045600-179048600	Active TSS	Right Atrium	heart
44	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
45	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
47	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
48	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
49	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
50	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone

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