Variant report

Variant	nsv1007376
Chromosome Location	chr4:68693483-69008202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1669)
CpG islands
(count:1041)
Chromatin interactive
region (count:89)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1669 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:68995505-68995878	K562	blood:	n/a	n/a
2	ARID3A	chr4:68776107-68776264	HepG2	liver:	n/a	n/a
3	ATF1	chr4:68794343-68794570	K562	blood:	n/a	n/a
4	ATF1	chr4:68799641-68799825	K562	blood:	n/a	n/a
5	ATF1	chr4:68995507-68995848	K562	blood:	n/a	n/a
6	ATF3	chr4:68995610-68995980	K562	blood:	n/a	n/a
7	BACH1	chr4:68990022-68990381	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:68794347-68794496	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr4:68727274-68727575	GM12878	blood:	n/a	n/a
10	BATF	chr4:68727253-68727571	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:68995560-68995938	K562	blood:	n/a	n/a
12	BRCA1	chr4:68795302-68795527	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr4:68995373-68995867	HCT-116	colon:	n/a	n/a
14	CBX3	chr4:68995389-68995866	K562	blood:	n/a	n/a
15	CCNT2	chr4:68711997-68712017	K562	blood:	n/a	n/a
16	CCNT2	chr4:68995497-68995943	K562	blood:	n/a	n/a
17	CEBPB	chr4:68940147-68940530	Hela-S3	cervix:	n/a	chr4:68940343-68940354
18	CEBPB	chr4:68854301-68854524	A549	lung:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
19	CEBPB	chr4:68855215-68855252	K562	blood:	n/a	n/a
20	CEBPB	chr4:68775674-68776023	HepG2	liver:	n/a	chr4:68775829-68775840
21	CEBPB	chr4:68867081-68867455	MCF-7	breast:	n/a	chr4:68867240-68867257
22	CEBPB	chr4:68856283-68856483	K562	blood:	n/a	chr4:68856321-68856332 chr4:68856323-68856334 chr4:68856323-68856332
23	CEBPB	chr4:68775691-68776000	A549	lung:	n/a	chr4:68775829-68775840
24	CEBPB	chr4:68751495-68752334	IMR90	lung:	n/a	chr4:68752041-68752054
25	CEBPB	chr4:68854260-68854618	IMR90	lung:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
26	CEBPB	chr4:68775653-68776022	IMR90	lung:	n/a	chr4:68775829-68775840
27	CEBPB	chr4:68987327-68987697	K562	blood:	n/a	chr4:68987420-68987431 chr4:68987420-68987431 chr4:68987420-68987433 chr4:68987677-68987688
28	CEBPB	chr4:68995621-68995932	K562	blood:	n/a	n/a
29	CEBPB	chr4:68995579-68995924	K562	blood:	n/a	n/a
30	CEBPB	chr4:68854296-68854552	K562	blood:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
31	CEBPB	chr4:68939459-68939688	IMR90	lung:	n/a	chr4:68939507-68939518
32	CEBPB	chr4:68940238-68940438	A549	lung:	n/a	chr4:68940343-68940354
33	CEBPB	chr4:68926863-68927089	IMR90	lung:	n/a	n/a
34	CEBPB	chr4:68867077-68867408	HepG2	liver:	n/a	chr4:68867240-68867257
35	CEBPB	chr4:68926854-68927085	HepG2	liver:	n/a	n/a
36	CEBPB	chr4:68995482-68995898	MCF-7	breast:	n/a	n/a
37	CEBPB	chr4:68894925-68895100	HepG2	liver:	n/a	chr4:68894994-68895007 chr4:68894996-68895005
38	CEBPB	chr4:68855153-68855430	MCF-7	breast:	n/a	chr4:68855246-68855257 chr4:68855292-68855300 chr4:68855247-68855258
39	CEBPB	chr4:68939433-68939695	HepG2	liver:	n/a	chr4:68939507-68939518
40	CEBPB	chr4:68739494-68739757	HepG2	liver:	n/a	chr4:68739607-68739620 chr4:68739608-68739619 chr4:68739634-68739645
41	CEBPB	chr4:68853094-68853163	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:68854270-68854590	HepG2	liver:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
43	CEBPB	chr4:68775665-68776273	K562	blood:	n/a	chr4:68775829-68775840
44	CEBPB	chr4:68940212-68940475	HepG2	liver:	n/a	chr4:68940343-68940354
45	CEBPB	chr4:68739532-68739750	A549	lung:	n/a	chr4:68739607-68739620 chr4:68739608-68739619 chr4:68739634-68739645
46	CEBPB	chr4:68867138-68867338	H1-hESC	embryonic stem cell:	n/a	chr4:68867240-68867257
47	CEBPB	chr4:68886657-68887443	HCT-116	colon:	n/a	n/a
48	CEBPB	chr4:68775720-68775923	H1-hESC	embryonic stem cell:	n/a	chr4:68775829-68775840
49	CEBPB	chr4:68894997-68895022	K562	blood:	n/a	n/a
50	CEBPB	chr4:68888023-68888100	HepG2	liver:	n/a	chr4:68888044-68888055

(count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:68928981-68929031	GM12878	blood:	n/a
2	chr4:68829101-68829151	HEEpiC	esophagus:	n/a
3	chr4:68801145-68801195	Hepatocyte	liver:	n/a
4	chr4:68904160-68904210	HepG2	liver:	n/a
5	chr4:68928981-68929031	GM12878	blood:	n/a
6	chr4:68829101-68829151	HEEpiC	esophagus:	n/a
7	chr4:68801145-68801195	Hepatocyte	liver:	n/a
8	chr4:68904160-68904210	HepG2	liver:	n/a
9	chr4:68995759-68995809	SK-N-MC	brain:	n/a
10	chr4:68829101-68829151	SK-N-SH	brain:	n/a
11	chr4:68699819-68699869	HRCEpiC	kidney:	n/a
12	chr4:68900280-68900330	PANC-1	pancreas:	n/a
13	chr4:68751711-68751761	HUVEC	blood vessel:	n/a
14	chr4:68929413-68929463	HRE	kidney:	n/a
15	chr4:68699819-68699869	GM12891	blood:	n/a
16	chr4:68900280-68900330	NT2-D1	testis:	n/a
17	chr4:68776652-68776702	HEEpiC	esophagus:	n/a
18	chr4:68830227-68830277	HUVEC	blood vessel:	n/a
19	chr4:68995759-68995809	ProgFib	skin:	n/a
20	chr4:68928981-68929031	BJ	skin:	n/a
21	chr4:68751711-68751761	HAEpiC	amniotic membrane:	n/a
22	chr4:68929020-68929070	HEEpiC	esophagus:	n/a
23	chr4:68776652-68776702	HRE	kidney:	n/a
24	chr4:68900280-68900330	HEEpiC	esophagus:	n/a
25	chr4:68930433-68930483	HNPCEpiC	eye:	n/a
26	chr4:68751711-68751761	HRCEpiC	kidney:	n/a
27	chr4:68930433-68930483	HIPEpiC	eye:	n/a
28	chr4:68995759-68995809	HRPEpiC	eye:	n/a
29	chr4:68995759-68995809	HAEpiC	amniotic membrane:	n/a
30	chr4:68900280-68900330	ECC-1	luminal epithelium:	n/a
31	chr4:68900280-68900330	HL-60	blood:	n/a
32	chr4:68830227-68830277	K562	blood:	n/a
33	chr4:68995995-68996045	ECC-1	luminal epithelium:	n/a
34	chr4:68995995-68996045	HCF	heart:	n/a
35	chr4:68699819-68699869	NB4	blood:	n/a
36	chr4:68928981-68929031	AG10803	skin:	n/a
37	chr4:68830227-68830277	HRPEpiC	eye:	n/a
38	chr4:68929005-68929055	AG09309	skin:	n/a
39	chr4:68904160-68904210	SK-N-SH_RA	brain:	n/a
40	chr4:68930433-68930483	NH-A	brain:	n/a
41	chr4:68919575-68919625	MCF10A-Er-Src	breast:	n/a
42	chr4:68919575-68919625	U87	brain:	n/a
43	chr4:68801145-68801195	AG04449	skin:	fetal
44	chr4:68801145-68801195	MCF10A-Er-Src	breast:	n/a
45	chr4:68929413-68929463	HMEC	breast:	n/a
46	chr4:68750080-68750130	NB4	blood:	n/a
47	chr4:68995759-68995809	BE2_C	brain:	n/a
48	chr4:68829101-68829151	HepG2	liver:	n/a
49	chr4:68919575-68919625	SAEC	small airway:	n/a
50	chr4:68904160-68904210	GM12892	blood:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:68747971..68750609-chr4:68750969..68752547,2	MCF-7	breast:
2	chr4:68915001..68917748-chr4:68918946..68921356,2	MCF-7	breast:
3	chr4:68994438..68997123-chr4:69006589..69008746,2	K562	blood:
4	chr4:68941725..68942553-chr4:69040855..69041893,4	MCF-7	breast:
5	chr4:68801891..68804770-chr4:68805510..68808424,3	K562	blood:
6	chr4:68945761..68946581-chr4:69040992..69041794,2	MCF-7	breast:
7	chr4:68913890..68916498-chr4:68916992..68918591,2	MCF-7	breast:
8	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
9	chr4:68713370..68716084-chr4:68718837..68721180,2	K562	blood:
10	chr4:68793797..68796085-chr4:69232793..69234726,2	MCF-7	breast:
11	chr4:68785311..68788293-chr4:68790779..68793140,2	MCF-7	breast:
12	chr4:68784089..68784796-chr4:68853790..68854411,2	MCF-7	breast:
13	chr4:68796679..68798591-chr4:68806253..68807881,2	MCF-7	breast:
14	chr4:68788496..68791205-chr4:68791799..68795295,5	MCF-7	breast:
15	chr4:68796679..68798591-chr4:68806253..68807881,2	MCF-7	breast:
16	chr4:68941684..68942576-chr4:69041048..69041788,2	K562	blood:
17	chr4:68737188..68737967-chr4:68783944..68784741,2	MCF-7	breast:
18	chr4:68794213..68794935-chr4:69590279..69590859,2	MCF-7	breast:
19	chr4:68794157..68794866-chr4:69050816..69051359,2	MCF-7	breast:
20	chr4:68924336..68926843-chr4:68931083..68932839,2	MCF-7	breast:
21	chr4:68801891..68804770-chr4:68805510..68808424,3	K562	blood:
22	chr4:68887827..68889608-chr4:68891154..68893430,2	K562	blood:
23	chr4:68913890..68916498-chr4:68916992..68918591,2	MCF-7	breast:
24	chr4:68883089..68884997-chr4:68887701..68890688,2	MCF-7	breast:
25	chr4:68987951..68990702-chr4:68992647..68994699,2	K562	blood:
26	chr4:68794060..68794853-chr4:68904568..68905079,2	MCF-7	breast:
27	chr4:68565498..68567091-chr4:68824885..68827731,2	K562	blood:
28	chr4:68924336..68926843-chr4:68931083..68932839,2	MCF-7	breast:
29	chr4:68883089..68884997-chr4:68887701..68890688,2	MCF-7	breast:
30	chr4:68911783..68913982-chr4:68917527..68919121,2	K562	blood:
31	chr4:68737272..68738257-chr4:68775113..68776602,5	MCF-7	breast:
32	chr4:68689643..68691154-chr4:68704651..68706725,2	K562	blood:
33	chr4:68784332..68784862-chr4:69040988..69041632,2	MCF-7	breast:
34	chr4:68788496..68791205-chr4:68791799..68795295,5	MCF-7	breast:
35	chr4:68783821..68784619-chr4:69040970..69041992,6	MCF-7	breast:
36	chr4:68802859..68804770-chr4:68805510..68807108,2	K562	blood:
37	chr4:68919044..68921969-chr4:68924326..68927015,2	K562	blood:
38	chr4:68791805..68794624-chr4:68798478..68800793,2	K562	blood:
39	chr4:68915001..68917748-chr4:68918946..68921356,2	MCF-7	breast:
40	chr4:68737188..68737967-chr4:68783944..68784741,2	MCF-7	breast:
41	chr4:68782641..68784982-chr4:68793433..68796175,2	MCF-7	breast:
42	chr4:68794052..68794960-chr4:69050850..69051709,2	MCF-7	breast:
43	chr4:68919044..68921969-chr4:68924326..68927015,2	K562	blood:
44	chr4:68794060..68794853-chr4:68904568..68905079,2	MCF-7	breast:
45	chr4:68788622..68791120-chr4:68792670..68794501,2	MCF-7	breast:
46	chr4:68774616..68776298-chr4:68783211..68785677,2	K562	blood:
47	chr4:68782641..68784982-chr4:68793433..68796175,2	MCF-7	breast:
48	chr4:68887827..68889608-chr4:68891154..68893430,2	K562	blood:
49	chr4:68798924..68801314-chr4:68932123..68934294,2	MCF-7	breast:
50	chr4:68853962..68854562-chr4:69041076..69041834,2	K562	blood:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMPRSS11E-1	chr4:68919226-68919276	NONHSAT096719
2	lnc-GNRHR-5	chr4:68700801-68700839	NONHSAT096713
3	lnc-GNRHR-5	chr4:68725275-68725396	NONHSAT096714
4	lnc-GNRHR-5	chr4:68726105-68726154	NONHSAT096715
5	lnc-TMPRSS11E-1	chr4:68926333-68928939	NONHSAT096719
6	lnc-GNRHR-5	chr4:68719786-68719904	NONHSAT096713
7	lnc-TMPRSS11A-2	chr4:68927540-68928987	NONHSAT096722
8	lnc-GNRHR-5	chr4:68749644-68749716	NONHSAT096714
9	lnc-TMPRSS11E-1	chr4:68943181-68943348	ENSG00000248049
10	lnc-GNRHR-5	chr4:68703890-68704047	NONHSAT096713
11	lnc-TMPRSS11E-1	chr4:68928801-68928939	ENSG00000248049
12	lnc-GNRHR-5	chr4:68749644-68749678	NONHSAT096715
13	lnc-GNRHR-5	chr4:68719786-68719904	NONHSAT096714
14	lnc-GNRHR-5	chr4:68725275-68725391	NONHSAT096715
15	lnc-TMPRSS11E-1	chr4:68945839-68945944	ENSG00000248049
16	lnc-TMPRSS11E-1	chr4:68945839-68946363	ENSG00000248049
17	lnc-TMPRSS11E-1	chr4:68942997-68943139	ENSG00000248049
18	lnc-TMPRSS11E-1	chr4:68938823-68938951	NONHSAT096719
19	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096715
20	lnc-TMPRSS11A-2	chr4:68926583-68927569	NONHSAT096720
21	lnc-TMPRSS11A-2	chr4:68928266-68928986	NONHSAT147287
22	lnc-TMPRSS11A-2	chr4:68926312-68926518	NONHSAT096720
23	lnc-TMPRSS11E-1	chr4:68928325-68928939	ENSG00000248049
24	lnc-TMPRSS11E-1	chr4:68928780-68928939	ENSG00000248049
25	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096714
26	lnc-GNRHR-5	chr4:68703925-68704047	NONHSAT096715
27	lnc-TMPRSS11A-2	chr4:68926328-68927569	NONHSAT096721
28	lnc-GNRHR-5	chr4:68719786-68719904	NONHSAT096715
29	lnc-GNRHR-5	chr4:68708276-68708343	NONHSAT096713
30	lnc-TMPRSS11A-2	chr4:68927630-68929015	NONHSAT096721
31	lnc-GNRHR-5	chr4:68703752-68704047	NONHSAT096714
32	lnc-TMPRSS11A-2	chr4:68927630-68929015	NONHSAT096720
33	lnc-GNRHR-5	chr4:68749644-68749719	NONHSAT096713
34	lnc-GNRHR-5	chr4:68699020-68699058	NONHSAT096713
35	lnc-GNRHR-5	chr4:68704734-68704776	NONHSAT096713
36	lnc-TMPRSS11E-1	chr4:68945839-68946670	ENSG00000248049

No data

Variant related genes	Relation type
TMPRSS11D	TF binding region
SYT14L	TF binding region
TMPRSS11A	TF binding region
UBA6-AS1	TF binding region
GCOM2	TF binding region
RNU6-95P	TF binding region
TMPRSS11F	TF binding region
TMPRSS11GP	TF binding region
TMPRSS11D	CpG island
SYT14L	CpG island
TMPRSS11A	CpG island
UBA6-AS1	CpG island
GCOM2	CpG island
RNU6-95P	CpG island
TMPRSS11F	CpG island
TMPRSS11GP	CpG island
ENSG00000198092	chromatin interactions
ENSG00000248049	chromatin interactions
ENSG00000033178	chromatin interactions
ENSG00000270228	chromatin interactions
ENSG00000175582	chromatin interactions
ENSG00000153802	chromatin interactions
ASPH	miRNA target sites
BCL2L11	miRNA target sites
BRD1	miRNA target sites
RALGPS2	miRNA target sites
GOLGA6A	miRNA target sites
KLHL15	miRNA target sites
DICER1	miRNA target sites
DDX50	miRNA target sites

Extended variants
information (count: 6911 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:6911 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2874031	chr4:68694228-68694229	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555946898	chr4:68694234-68694235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575702417	chr4:68694251-68694252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555094214	chr4:68694263-68694264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1595933	chr4:68694286-68694287	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs564324626	chr4:68694312-68694313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs578173847	chr4:68694316-68694317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192419482	chr4:68694334-68694335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560295847	chr4:68694338-68694339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370980873	chr4:68694367-68694368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529005474	chr4:68694381-68694382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139806920	chr4:68694449-68694450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79968033	chr4:68694506-68694507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562283327	chr4:68694538-68694539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531310011	chr4:68694662-68694663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551329767	chr4:68694681-68694682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183934900	chr4:68694717-68694718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7654002	chr4:68694773-68694774	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114251514	chr4:68694779-68694780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35381071	chr4:68694828-68694829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201914104	chr4:68694829-68694830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570153950	chr4:68694842-68694843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543768325	chr4:68694859-68694860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187700348	chr4:68694878-68694879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369505438	chr4:68694919-68694920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536494730	chr4:68694933-68694934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563557659	chr4:68694935-68694936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556399715	chr4:68694953-68694954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529547089	chr4:68695006-68695007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568170182	chr4:68695007-68695008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537973307	chr4:68695011-68695012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192330263	chr4:68695061-68695062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577985269	chr4:68695128-68695129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540898588	chr4:68695160-68695161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143735807	chr4:68695164-68695165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376187934	chr4:68695165-68695166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11322109	chr4:68695166-68695167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13149082	chr4:68695179-68695180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554090135	chr4:68695200-68695201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13125786	chr4:68695220-68695221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13125793	chr4:68695225-68695226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13150757	chr4:68695232-68695233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184666732	chr4:68695252-68695253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372036306	chr4:68695281-68695282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542766285	chr4:68695330-68695331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1486132	chr4:68695346-68695347	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531403027	chr4:68695463-68695464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188502651	chr4:68695484-68695485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113070463	chr4:68695499-68695500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527345688	chr4:68695551-68695552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68699000-68719000	Weak transcription	Esophagus	oesophagus
2	chr4:68712600-68717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:68715800-68716400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:68716000-68716400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:68717600-68718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:68725400-68725800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:68726800-68727000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:68726800-68727000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:68726800-68727000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:68726800-68727000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:68726800-68727000	Enhancers	NHEK	skin
12	chr4:68726800-68727200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:68727000-68727200	Flanking Active TSS	HMEC	breast
14	chr4:68727000-68727400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:68727000-68727600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:68727000-68727600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:68727000-68727600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:68727000-68727600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:68727000-68727600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:68727000-68727800	Flanking Active TSS	NHEK	skin
21	chr4:68727200-68727400	Active TSS	HMEC	breast
22	chr4:68727200-68727600	Enhancers	HSMM	muscle
23	chr4:68727400-68727600	Flanking Active TSS	HMEC	breast
24	chr4:68727600-68727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:68727600-68727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:68727600-68727800	Enhancers	HMEC	breast
27	chr4:68727600-68728200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:68727800-68728000	Enhancers	NHEK	skin
29	chr4:68727800-68735400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:68734200-68735000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:68735200-68735600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:68735400-68735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:68735400-68735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:68735600-68740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:68735800-68738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:68735800-68738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:68737800-68739600	Enhancers	NHEK	skin
38	chr4:68737800-68741200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:68738400-68739600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:68738400-68739600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:68738400-68740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:68738600-68739000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:68738600-68739200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:68738600-68739200	Enhancers	HMEC	breast
45	chr4:68738800-68739000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:68738800-68739200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:68739000-68739400	Enhancers	Adipose Nuclei	Adipose
48	chr4:68739000-68747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:68739200-68740800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:68739200-68740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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