Variant report

Variant	nsv933769
Chromosome Location	chr5:60240706-60309751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1107)
CpG islands
(count:854)
Chromatin interactive
region (count:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60274848-60275124	K562	blood:	n/a	n/a
2	ARID3A	chr5:60240718-60241241	HepG2	liver:	n/a	n/a
3	ATF1	chr5:60274513-60275143	K562	blood:	n/a	n/a
4	ATF1	chr5:60257644-60257861	K562	blood:	n/a	n/a
5	ATF2	chr5:60240675-60241129	GM12878	blood:	n/a	n/a
6	ATF3	chr5:60257617-60257921	K562	blood:	n/a	n/a
7	BACH1	chr5:60274899-60275146	K562	blood:	n/a	n/a
8	BACH1	chr5:60241238-60241531	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr5:60241147-60241621	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:60274319-60275283	K562	blood:	n/a	n/a
11	BHLHE40	chr5:60273867-60274075	K562	blood:	n/a	n/a
12	BHLHE40	chr5:60240872-60241581	K562	blood:	n/a	chr5:60241008-60241024
13	BHLHE40	chr5:60241820-60242140	K562	blood:	n/a	n/a
14	BHLHE40	chr5:60240684-60241301	GM12878	blood:	n/a	chr5:60241008-60241024
15	BRCA1	chr5:60306630-60306773	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr5:60242705-60242764	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr5:60251024-60251519	HCT-116	colon:	n/a	n/a
18	CBX3	chr5:60277815-60278245	K562	blood:	n/a	n/a
19	CBX3	chr5:60289206-60289789	K562	blood:	n/a	n/a
20	CBX3	chr5:60274711-60275276	K562	blood:	n/a	n/a
21	CBX3	chr5:60289190-60289610	K562	blood:	n/a	n/a
22	CBX3	chr5:60289241-60289660	HCT-116	colon:	n/a	n/a
23	CBX3	chr5:60240930-60241613	K562	blood:	n/a	n/a
24	CBX3	chr5:60274796-60275180	K562	blood:	n/a	n/a
25	CCNT2	chr5:60274822-60275307	K562	blood:	n/a	n/a
26	CCNT2	chr5:60257762-60257798	K562	blood:	n/a	n/a
27	CCNT2	chr5:60241747-60241947	K562	blood:	n/a	n/a
28	CCNT2	chr5:60273908-60274052	K562	blood:	n/a	n/a
29	CCNT2	chr5:60240705-60241024	K562	blood:	n/a	n/a
30	CEBPB	chr5:60257560-60257919	IMR90	lung:	n/a	chr5:60257738-60257749
31	CEBPB	chr5:60241137-60241281	K562	blood:	n/a	n/a
32	CEBPB	chr5:60270955-60271195	HepG2	liver:	n/a	n/a
33	CEBPB	chr5:60257710-60257892	H1-hESC	embryonic stem cell:	n/a	chr5:60257738-60257749
34	CEBPB	chr5:60240711-60242121	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:60257618-60257870	K562	blood:	n/a	chr5:60257738-60257749
36	CEBPB	chr5:60257625-60257868	ECC-1	luminal epithelium:	n/a	chr5:60257738-60257749
37	CEBPB	chr5:60257545-60257922	K562	blood:	n/a	chr5:60257738-60257749
38	CEBPB	chr5:60257603-60257821	MCF-7	breast:	n/a	chr5:60257738-60257749
39	CEBPB	chr5:60273815-60274085	K562	blood:	n/a	n/a
40	CEBPB	chr5:60257590-60257926	HepG2	liver:	n/a	chr5:60257738-60257749
41	CEBPB	chr5:60274785-60275239	K562	blood:	n/a	n/a
42	CEBPB	chr5:60249109-60249119	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr5:60240741-60241412	IMR90	lung:	n/a	n/a
44	CEBPB	chr5:60257588-60257891	A549	lung:	n/a	chr5:60257738-60257749
45	CEBPB	chr5:60240799-60241057	HepG2	liver:	n/a	n/a
46	CEBPB	chr5:60257587-60257962	A549	lung:	n/a	chr5:60257738-60257749
47	CEBPB	chr5:60257591-60257887	Hela-S3	cervix:	n/a	chr5:60257738-60257749
48	CEBPB	chr5:60277826-60278023	HepG2	liver:	n/a	n/a
49	CEBPB	chr5:60257552-60257954	K562	blood:	n/a	chr5:60257738-60257749
50	CEBPB	chr5:60274920-60275191	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60240870-60240920	Hepatocyte	liver:	n/a
2	chr5:60241636-60241686	CMK	blood:	n/a
3	chr5:60241636-60241686	HRE	kidney:	n/a
4	chr5:60241636-60241686	HEK293	kidney:	embryo
5	chr5:60240670-60240720	HepG2	liver:	n/a
6	chr5:60240670-60240720	MCF-7	breast:	n/a
7	chr5:60240952-60241002	Jurkat	blood:	n/a
8	chr5:60241003-60241053	HMEC	breast:	n/a
9	chr5:60240952-60241002	H1-hESC	embryonic stem cell:	embryo
10	chr5:60240938-60240988	SAEC	small airway:	n/a
11	chr5:60240891-60240941	NT2-D1	testis:	n/a
12	chr5:60241003-60241053	GM19239	blood:	n/a
13	chr5:60240817-60240867	MCF10A-Er-Src	breast:	n/a
14	chr5:60241636-60241686	AoSMC	blood vessel:	n/a
15	chr5:60240838-60240888	SK-N-SH	brain:	n/a
16	chr5:60240870-60240920	PANC-1	pancreas:	n/a
17	chr5:60240926-60240976	NHBE	bronchial:	n/a
18	chr5:60240838-60240888	MCF-7	breast:	n/a
19	chr5:60240870-60240920	HMEC	breast:	n/a
20	chr5:60241019-60241069	HMEC	breast:	n/a
21	chr5:60240926-60240976	HRPEpiC	eye:	n/a
22	chr5:60240938-60240988	Jurkat	blood:	n/a
23	chr5:60241428-60241478	HMEC	breast:	n/a
24	chr5:60241019-60241069	SK-N-SH_RA	brain:	n/a
25	chr5:60241019-60241069	ProgFib	skin:	n/a
26	chr5:60241424-60241474	GM19239	blood:	n/a
27	chr5:60240891-60240941	U87	brain:	n/a
28	chr5:60240817-60240867	PrEC	prostate:	n/a
29	chr5:60240938-60240988	HCF	heart:	n/a
30	chr5:60241324-60241374	HIPEpiC	eye:	n/a
31	chr5:60241324-60241374	RPTEC	kidney:	n/a
32	chr5:60240870-60240920	HCF	heart:	n/a
33	chr5:60241428-60241478	HIPEpiC	eye:	n/a
34	chr5:60240870-60240920	AG04450	lung:	fetal
35	chr5:60241428-60241478	SK-N-MC	brain:	n/a
36	chr5:60241636-60241686	HNPCEpiC	eye:	n/a
37	chr5:60241428-60241478	NHBE	bronchial:	n/a
38	chr5:60240817-60240867	HRPEpiC	eye:	n/a
39	chr5:60240838-60240888	IMR90	lung:	fetal
40	chr5:60240938-60240988	HRCEpiC	kidney:	n/a
41	chr5:60240952-60241002	Hepatocyte	liver:	n/a
42	chr5:60240838-60240888	NHBE	bronchial:	n/a
43	chr5:60240817-60240867	AoSMC	blood vessel:	n/a
44	chr5:60240952-60241002	GM12892	blood:	n/a
45	chr5:60240817-60240867	HIPEpiC	eye:	n/a
46	chr5:60240891-60240941	MCF-7	breast:	n/a
47	chr5:60241003-60241053	NHBE	bronchial:	n/a
48	chr5:60240838-60240888	HUVEC	blood vessel:	n/a
49	chr5:60241324-60241374	HUVEC	blood vessel:	n/a
50	chr5:60240817-60240867	AG10803	skin:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
2	chr5:60239573..60241896-chr5:60245590..60248548,2	K562	blood:
3	chr5:60238110..60240722-chr5:60956482..60958434,2	MCF-7	breast:
4	chr5:60238903..60240533-chr5:60255101..60257245,2	K562	blood:
5	chr5:60307463..60309346-chr5:60317381..60319314,2	K562	blood:
6	chr5:60248420..60251083-chr5:60253409..60255301,2	K562	blood:
7	chr5:60246470..60249444-chr5:60252320..60255288,2	K562	blood:
8	chr5:60249583..60251720-chr5:60253693..60255301,2	K562	blood:
9	chr5:60248322..60251287-chr5:60256158..60258205,2	K562	blood:
10	chr5:60246470..60249444-chr5:60252320..60255288,2	K562	blood:
11	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
12	chr1:156698013..156698560-chr5:60240745..60241454,2	Hela-S3	cervix:
13	chr5:60249583..60251720-chr5:60253693..60255301,2	K562	blood:
14	chr5:60238903..60241711-chr5:60255745..60258195,2	K562	blood:
15	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
16	chr5:60242359..60244736-chr5:60254537..60257581,3	K562	blood:
17	chr5:60248322..60251287-chr5:60256158..60258205,2	K562	blood:
18	chr5:10761355..10761920-chr5:60240758..60241387,2	NB4	blood:
19	chr5:60305681..60307942-chr5:60309957..60312620,2	MCF-7	breast:
20	chr5:60244730..60246591-chr5:60250985..60252968,2	MCF-7	breast:
21	chr5:60308495..60310817-chr5:60337811..60340272,2	K562	blood:
22	chr5:60307333..60308996-chr5:60311645..60313281,2	K562	blood:
23	chr5:60261942..60265146-chr5:60457137..60459002,3	MCF-7	breast:
24	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
25	chr5:60244987..60247970-chr5:60252320..60254157,2	K562	blood:
26	chr5:59995891..59998683-chr5:60261062..60263658,2	K562	blood:
27	chr5:60241626..60243235-chr5:60252135..60253778,2	K562	blood:
28	chr5:60244730..60246591-chr5:60250985..60252968,2	MCF-7	breast:
29	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
30	chr5:60254798..60255532-chr5:60954065..60954863,2	K562	blood:
31	chr5:60268329..60270384-chr5:60275561..60277405,2	K562	blood:
32	chr5:60268329..60270384-chr5:60275561..60277405,2	K562	blood:
33	chr5:60239789..60242454-chr5:60245834..60249187,6	MCF-7	breast:
34	chr5:60306690..60309499-chr5:60316229..60318083,2	MCF-7	breast:
35	chr5:60248420..60251083-chr5:60253409..60255301,2	K562	blood:
36	chr5:60241626..60243235-chr5:60252135..60253778,2	K562	blood:
37	chr5:60244987..60247970-chr5:60252320..60254157,2	K562	blood:
38	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
39	chr2:25194755..25195595-chr5:60240745..60241487,2	Hela-S3	cervix:
40	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
41	chr5:60309345..60311074-chr5:60313385..60316097,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM6-4	chr5:60241056-60241209	NONHSAT101655

No data

Variant related genes	Relation type
NDUFAF2	TF binding region
ERCC8	TF binding region
NDUFAF2	CpG island
ERCC8	CpG island
ENSG00000224165	chromatin interactions
ENSG00000164181	chromatin interactions
ENSG00000112977	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000251279	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000049167	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000164182	chromatin interactions

Extended variants
information (count: 2461 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2461 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4647039	chr5:60240743-60240744	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201327177	chr5:60240749-60240750	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs149130938	chr5:60240770-60240771	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs202185871	chr5:60240784-60240785	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs200846878	chr5:60240793-60240794	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs143255688	chr5:60240796-60240797	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs121434324	chr5:60240799-60240800	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs199968351	chr5:60240838-60240839	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs372236542	chr5:60240843-60240844	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs4647038	chr5:60240858-60240859	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561820700	chr5:60240863-60240864	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs368069191	chr5:60240874-60240875	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs370536140	chr5:60240875-60240876	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs376009266	chr5:60240894-60240895	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs4647037	chr5:60240968-60240969	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs158922	chr5:60240986-60240987	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs533285562	chr5:60240988-60240989	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs4647036	chr5:60240992-60240993	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566477218	chr5:60240994-60240995	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs372028035	chr5:60240997-60240998	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs376045901	chr5:60241017-60241018	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs375768800	chr5:60241030-60241031	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs370364064	chr5:60241033-60241034	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs548669440	chr5:60241034-60241035	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs199591129	chr5:60241049-60241050	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs200299226	chr5:60241050-60241051	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs568656878	chr5:60241060-60241061	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
28	rs374346406	chr5:60241114-60241115	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs368446242	chr5:60241120-60241121	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs141492697	chr5:60241132-60241133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs538037419	chr5:60241139-60241140	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs158921	chr5:60241142-60241143	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs547258276	chr5:60241163-60241164	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs201295435	chr5:60241187-60241188	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs144006692	chr5:60241192-60241193	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
36	rs199754807	chr5:60241196-60241197	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs376747316	chr5:60241202-60241203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs181500190	chr5:60241220-60241221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs77149936	chr5:60241241-60241242	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs371386047	chr5:60241254-60241255	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs186930351	chr5:60241258-60241259	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs201103085	chr5:60241260-60241261	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs158920	chr5:60241268-60241269	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs556685577	chr5:60241274-60241275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs537537014	chr5:60241283-60241284	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs4647035	chr5:60241292-60241293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs544398381	chr5:60241315-60241316	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs564326628	chr5:60241322-60241323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs377277599	chr5:60241323-60241324	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs533042595	chr5:60241328-60241329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60239400-60241400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:60239400-60241600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:60239400-60241800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:60239600-60241600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:60239600-60242000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:60239600-60242200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:60239600-60242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:60239600-60242400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:60239600-60242400	Active TSS	Right Atrium	heart
10	chr5:60239600-60242600	Active TSS	A549	lung
11	chr5:60239800-60241600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr5:60239800-60242200	Active TSS	Colonic Mucosa	Colon
13	chr5:60239800-60242800	Active TSS	Psoas Muscle	Psoas
14	chr5:60240000-60241400	Active TSS	Fetal Muscle Trunk	muscle
15	chr5:60240000-60241800	Bivalent/Poised TSS	HepG2	liver
16	chr5:60240000-60242000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:60240000-60242000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:60240000-60242200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:60240000-60242200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:60240000-60242200	Active TSS	Fetal Stomach	stomach
21	chr5:60240000-60242200	Active TSS	Gastric	stomach
22	chr5:60240000-60242200	Active TSS	Left Ventricle	heart
23	chr5:60240000-60242200	Active TSS	Ovary	ovary
24	chr5:60240000-60242400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:60240000-60242600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr5:60240000-60242600	Active TSS	GM12878-XiMat	blood
27	chr5:60240000-60242600	Active TSS	K562	blood
28	chr5:60240200-60241600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr5:60240200-60241800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:60240200-60242000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:60240200-60242000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:60240200-60242000	Active TSS	Fetal Heart	heart
33	chr5:60240200-60242200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:60240200-60242200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:60240200-60242200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:60240200-60242200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:60240200-60242200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:60240200-60242200	Active TSS	Brain Hippocampus Middle	brain
39	chr5:60240200-60242200	Active TSS	Esophagus	oesophagus
40	chr5:60240200-60242200	Active TSS	Fetal Intestine Large	intestine
41	chr5:60240200-60242200	Active TSS	Fetal Kidney	kidney
42	chr5:60240200-60242200	Active TSS	Lung	lung
43	chr5:60240200-60242200	Active TSS	Pancreas	Pancrea
44	chr5:60240200-60242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:60240200-60242400	Active TSS	Fetal Intestine Small	intestine
46	chr5:60240200-60242400	Active TSS	HSMM	muscle
47	chr5:60240200-60242600	Active TSS	Brain Germinal Matrix	brain
48	chr5:60240200-60242600	Active TSS	Hela-S3	cervix
49	chr5:60240200-60242600	Active TSS	NHLF	lung
50	chr5:60240200-60242800	Active TSS	NHDF-Ad	bronchial

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