Variant report

Variant	esv3325067
Chromosome Location	chr8:66753023-66755571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:66754247-66754443	K562	blood:	n/a	n/a
2	ARID3A	chr8:66754015-66754485	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:66754748-66755095	K562	blood:	n/a	n/a
4	ATF1	chr8:66754163-66755499	K562	blood:	n/a	chr8:66754802-66754816 chr8:66754341-66754355
5	ATF2	chr8:66754052-66755317	GM12878	blood:	n/a	chr8:66754802-66754816 chr8:66754840-66754851 chr8:66754343-66754354 chr8:66754804-66754815 chr8:66754341-66754355
6	ATF2	chr8:66754136-66755208	H1-hESC	embryonic stem cell:	n/a	chr8:66754802-66754816 chr8:66754840-66754851 chr8:66754343-66754354 chr8:66754804-66754815 chr8:66754341-66754355
7	ATF2	chr8:66754204-66755384	GM12878	blood:	n/a	chr8:66754802-66754816 chr8:66754840-66754851 chr8:66754343-66754354 chr8:66754804-66754815 chr8:66754341-66754355
8	ATF2	chr8:66754180-66755168	H1-hESC	embryonic stem cell:	n/a	chr8:66754802-66754816 chr8:66754840-66754851 chr8:66754343-66754354 chr8:66754804-66754815 chr8:66754341-66754355
9	ATF3	chr8:66754204-66754566	K562	blood:	n/a	chr8:66754342-66754355 chr8:66754342-66754352 chr8:66754343-66754354 chr8:66754344-66754352 chr8:66754341-66754354 chr8:66754343-66754354 chr8:66754342-66754352 chr8:66754345-66754353 chr8:66754345-66754352
10	ATF3	chr8:66754600-66755038	K562	blood:	n/a	chr8:66754806-66754813 chr8:66754803-66754814 chr8:66754805-66754825 chr8:66754805-66754816 chr8:66754804-66754817 chr8:66754803-66754816 chr8:66754806-66754816 chr8:66754803-66754813 chr8:66754805-66754813 chr8:66754802-66754815 chr8:66754804-66754815 chr8:66754806-66754816 chr8:66754803-66754816 chr8:66754802-66754817 chr8:66754840-66754853
11	ATF3	chr8:66754283-66755033	A549	lung:	n/a	chr8:66754342-66754355 chr8:66754342-66754352 chr8:66754806-66754813 chr8:66754343-66754354 chr8:66754344-66754352 chr8:66754803-66754814 chr8:66754805-66754825 chr8:66754341-66754354 chr8:66754343-66754354 chr8:66754342-66754352 chr8:66754805-66754816 chr8:66754804-66754817 chr8:66754803-66754816 chr8:66754806-66754816 chr8:66754803-66754813 chr8:66754345-66754353 chr8:66754805-66754813 chr8:66754802-66754815 chr8:66754804-66754815 chr8:66754345-66754352 chr8:66754806-66754816 chr8:66754803-66754816 chr8:66754802-66754817 chr8:66754840-66754853
12	ATF3	chr8:66754586-66754948	K562	blood:	n/a	chr8:66754806-66754813 chr8:66754803-66754814 chr8:66754805-66754825 chr8:66754805-66754816 chr8:66754804-66754817 chr8:66754803-66754816 chr8:66754806-66754816 chr8:66754803-66754813 chr8:66754805-66754813 chr8:66754802-66754815 chr8:66754804-66754815 chr8:66754806-66754816 chr8:66754803-66754816 chr8:66754802-66754817 chr8:66754840-66754853
13	ATF3	chr8:66754229-66754520	HepG2	liver:	n/a	chr8:66754342-66754355 chr8:66754342-66754352 chr8:66754343-66754354 chr8:66754344-66754352 chr8:66754341-66754354 chr8:66754343-66754354 chr8:66754342-66754352 chr8:66754345-66754353 chr8:66754345-66754352
14	BCL3	chr8:66754219-66754861	A549	lung:	n/a	n/a
15	BCL3	chr8:66754194-66754768	A549	lung:	n/a	n/a
16	BCL3	chr8:66754607-66755043	GM12878	blood:	n/a	chr8:66755000-66755009 chr8:66754950-66754959
17	BCLAF1	chr8:66753810-66755346	GM12878	blood:	n/a	chr8:66753938-66753951 chr8:66754043-66754056 chr8:66753912-66753925 chr8:66755000-66755009 chr8:66753939-66753952 chr8:66753813-66753826 chr8:66754950-66754959 chr8:66753941-66753954
18	BCLAF1	chr8:66753854-66755034	GM12878	blood:	n/a	chr8:66753938-66753951 chr8:66754043-66754056 chr8:66753912-66753925 chr8:66755000-66755009 chr8:66753939-66753952 chr8:66754950-66754959 chr8:66753941-66753954
19	BHLHE40	chr8:66754001-66754979	K562	blood:	n/a	n/a
20	BHLHE40	chr8:66753963-66755283	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:66753080-66753280	K562	blood:	n/a	chr8:66753160-66753176
22	BHLHE40	chr8:66753626-66753720	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:66753079-66753089	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr8:66754232-66754878	HepG2	liver:	n/a	n/a
25	BRCA1	chr8:66754203-66754855	GM12878	blood:	n/a	n/a
26	BRCA1	chr8:66754223-66754925	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr8:66755145-66755330	GM12878	blood:	n/a	n/a
28	BRCA1	chr8:66754008-66755245	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr8:66754551-66755192	K562	blood:	n/a	n/a
30	CBX3	chr8:66754189-66755476	K562	blood:	n/a	n/a
31	CBX3	chr8:66754204-66754478	K562	blood:	n/a	n/a
32	CCNT2	chr8:66753597-66755002	K562	blood:	n/a	chr8:66753896-66753905 chr8:66754243-66754252 chr8:66753902-66753911
33	CEBPB	chr8:66754235-66754450	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:66753805-66754843	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:66752542-66753388	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr8:66754222-66754890	K562	blood:	n/a	n/a
37	CEBPB	chr8:66752985-66753335	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr8:66754337-66754539	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr8:66754138-66754548	A549	lung:	n/a	n/a
40	CEBPB	chr8:66754173-66754497	HepG2	liver:	n/a	n/a
41	CEBPB	chr8:66753632-66753747	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr8:66753113-66753398	K562	blood:	n/a	n/a
43	CEBPB	chr8:66753201-66753329	HepG2	liver:	n/a	n/a
44	CEBPB	chr8:66753950-66755357	Hela-S3	cervix:	n/a	n/a
45	CEBPD	chr8:66754716-66755010	HepG2	liver:	n/a	n/a
46	CEBPD	chr8:66754211-66754438	HepG2	liver:	n/a	n/a
47	CEBPD	chr8:66753956-66754573	HepG2	liver:	n/a	n/a
48	CHD1	chr8:66753953-66755278	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr8:66752651-66755350	GM12878	blood:	n/a	n/a
50	CHD1	chr8:66752809-66753719	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:66754949-66754999	Hela-S3	cervix:	n/a
2	chr8:66754949-66754999	Hela-S3	cervix:	n/a
3	chr8:66753150-66753200	HIPEpiC	eye:	n/a
4	chr8:66754949-66754999	BE2_C	brain:	n/a
5	chr8:66753089-66753139	GM12891	blood:	n/a
6	chr8:66753150-66753200	U87	brain:	n/a
7	chr8:66753150-66753200	Hepatocyte	liver:	n/a
8	chr8:66753089-66753139	LNCaP	prostate:	n/a
9	chr8:66754279-66754329	ovcar-3	ovarian:	n/a
10	chr8:66753089-66753139	HUVEC	blood vessel:	n/a
11	chr8:66753150-66753200	A549	lung:	n/a
12	chr8:66753864-66753914	BJ	skin:	n/a
13	chr8:66753750-66753800	BE2_C	brain:	n/a
14	chr8:66753750-66753800	MCF10A-Er-Src	breast:	n/a
15	chr8:66755120-66755170	NT2-D1	testis:	n/a
16	chr8:66753754-66753804	HNPCEpiC	eye:	n/a
17	chr8:66753754-66753804	BJ	skin:	n/a
18	chr8:66753150-66753200	CMK	blood:	n/a
19	chr8:66753754-66753804	HMEC	breast:	n/a
20	chr8:66754114-66754164	HAEpiC	amniotic membrane:	n/a
21	chr8:66754114-66754164	U87	brain:	n/a
22	chr8:66754949-66754999	AG04450	lung:	fetal
23	chr8:66754949-66754999	HUVEC	blood vessel:	n/a
24	chr8:66754114-66754164	MCF10A-Er-Src	breast:	n/a
25	chr8:66753089-66753139	HCT-116	colon:	n/a
26	chr8:66753864-66753914	AG09309	skin:	n/a
27	chr8:66753750-66753800	HepG2	liver:	n/a
28	chr8:66754114-66754164	HEK293	kidney:	embryo
29	chr8:66754949-66754999	BJ	skin:	n/a
30	chr8:66753864-66753914	HCT-116	colon:	n/a
31	chr8:66754114-66754164	SKMC	muscle:	n/a
32	chr8:66755120-66755170	NH-A	brain:	n/a
33	chr8:66755120-66755170	HPAEpiC	pulmonary alveolar:	n/a
34	chr8:66754949-66754999	HCPEpiC	choroid plexus:	n/a
35	chr8:66754279-66754329	Hela-S3	cervix:	n/a
36	chr8:66753150-66753200	NH-A	brain:	n/a
37	chr8:66754114-66754164	HMEC	breast:	n/a
38	chr8:66753864-66753914	HRE	kidney:	n/a
39	chr8:66754114-66754164	AG09309	skin:	n/a
40	chr8:66754114-66754164	HUVEC	blood vessel:	n/a
41	chr8:66754279-66754329	HPAEpiC	pulmonary alveolar:	n/a
42	chr8:66754949-66754999	AG09309	skin:	n/a
43	chr8:66754949-66754999	LNCaP	prostate:	n/a
44	chr8:66754949-66754999	T-47D	breast:	n/a
45	chr8:66754114-66754164	AG04450	lung:	fetal
46	chr8:66754279-66754329	NHDF-neo	bronchial:	n/a
47	chr8:66754279-66754329	ECC-1	luminal epithelium:	n/a
48	chr8:66753750-66753800	SKMC	muscle:	n/a
49	chr8:66753864-66753914	Jurkat	blood:	n/a
50	chr8:66754949-66754999	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
2	chr16:28936555..28937237-chr8:66753486..66754351,2	Hela-S3	cervix:
3	chr8:66695473..66703733-chr8:66751774..66756006,10	K562	blood:
4	chr8:66753039..66754980-chr8:67343764..67346186,2	K562	blood:
5	chr10:70091323..70092014-chr8:66754029..66754661,2	Hela-S3	cervix:
6	chr8:66754751..66755294-chr9:131580425..131581265,2	NB4	blood:
7	chr4:89744060..89744671-chr8:66754346..66754963,2	Hela-S3	cervix:
8	chr14:90862889..90863882-chr8:66753971..66754946,3	Hela-S3	cervix:
9	chr17:73975126..73976087-chr8:66754050..66754831,2	NB4	blood:
10	chr8:66739522..66741697-chr8:66751069..66753094,2	K562	blood:
11	chr6:42017972..42018535-chr8:66754653..66755319,2	NB4	blood:
12	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:
13	chr8:66754330..66755269-chr9:140135296..140136144,2	HCT-116	colon:
14	chr2:208490326..208490930-chr8:66754321..66754946,2	Hela-S3	cervix:
15	chr6:26271440..26272118-chr8:66753972..66754564,2	Hela-S3	cervix:
16	chr19:55769985..55770876-chr8:66754056..66754841,2	Hela-S3	cervix:
17	chr7:66767408..66768408-chr8:66753835..66754521,2	Hela-S3	cervix:
18	chr19:4342444..4342968-chr8:66754415..66755037,2	HCT-116	colon:
19	chr3:183354213..183354782-chr8:66754243..66754804,2	HCT-116	colon:
20	chr8:66755086..66757057-chr8:66757170..66760034,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTFR1-1	chr8:66754987-66755566	ENSG00000272192.1

Variant related genes	Relation type
ENSG00000272192	TF binding region
PDE7A	TF binding region
ENSG00000272192	CpG island
PDE7A	CpG island
ENSG00000106610	chromatin interactions
ENSG00000138640	chromatin interactions
ENSG00000067601	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000205268	chromatin interactions
ENSG00000257949	chromatin interactions
ENSG00000177548	chromatin interactions
ENSG00000144401	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000178078	chromatin interactions
ENSG00000167136	chromatin interactions
ENSG00000161533	chromatin interactions
ENSG00000261408	chromatin interactions
ENSG00000112576	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000114796	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000147570	chromatin interactions
ENSG00000147576	chromatin interactions
ENSG00000137413	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143708160	chr8:66753068-66753069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs373771375	chr8:66753090-66753091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs115013741	chr8:66753105-66753106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs367714654	chr8:66753116-66753117	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs547124221	chr8:66753138-66753139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs184317116	chr8:66753151-66753152	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs569359417	chr8:66753155-66753156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs6472225	chr8:66753261-66753262	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs372182143	chr8:66753283-66753284	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs551021635	chr8:66753309-66753310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs545895339	chr8:66753325-66753326	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs548640312	chr8:66753367-66753368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs539763563	chr8:66753416-66753417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs190006154	chr8:66753425-66753426	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs566662406	chr8:66753437-66753438	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs148097418	chr8:66753480-66753481	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs555061571	chr8:66753495-66753496	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573376546	chr8:66753516-66753517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs543884348	chr8:66753533-66753534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs369109613	chr8:66753593-66753594	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs556163054	chr8:66753612-66753613	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs577560502	chr8:66753618-66753619	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs372892006	chr8:66753628-66753629	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs375630890	chr8:66753691-66753692	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs202161424	chr8:66753695-66753696	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs369071739	chr8:66753729-66753730	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs564107236	chr8:66753802-66753803	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs546477427	chr8:66753805-66753806	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs564581760	chr8:66753811-66753812	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs528711999	chr8:66753844-66753845	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs540801843	chr8:66753998-66753999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs562242951	chr8:66754015-66754016	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs140913845	chr8:66754074-66754075	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs550787657	chr8:66754087-66754088	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs569282160	chr8:66754090-66754091	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs533129166	chr8:66754150-66754151	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs551663938	chr8:66754151-66754152	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs369019799	chr8:66754181-66754182	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs113449182	chr8:66754188-66754189	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs549877679	chr8:66754198-66754199	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs568131931	chr8:66754199-66754200	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs534083704	chr8:66754234-66754235	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs555171981	chr8:66754287-66754288	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs567110343	chr8:66754301-66754302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs56715233	chr8:66754375-66754376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs181221289	chr8:66754401-66754402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs184582342	chr8:66754403-66754404	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs544643756	chr8:66754420-66754421	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs189048762	chr8:66754437-66754438	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs573606928	chr8:66754455-66754456	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Prostate cancer	22341455	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
2	chr8:66748200-66755800	Active TSS	Thymus	Thymus
3	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:66749600-66755000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr8:66749800-66755000	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr8:66750000-66753400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr8:66750200-66754400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:66750800-66755000	Active TSS	GM12878-XiMat	blood
10	chr8:66751000-66755200	Active TSS	Right Atrium	heart
11	chr8:66751000-66755600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:66751200-66754400	Active TSS	HMEC	breast
13	chr8:66751200-66754800	Active TSS	Fetal Thymus	thymus
14	chr8:66751200-66755200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:66751200-66755200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:66751200-66755200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:66751200-66755400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:66751400-66753200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:66751400-66755000	Active TSS	Dnd41	blood
20	chr8:66751400-66755800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:66751800-66755000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:66751800-66755200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:66751800-66755200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:66751800-66755200	Active TSS	K562	blood
25	chr8:66751800-66755400	Active TSS	NHDF-Ad	bronchial
26	chr8:66752000-66753200	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr8:66752000-66755000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:66752000-66755000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:66752000-66755000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:66752000-66755000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:66752000-66755000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:66752000-66755000	Active TSS	Hela-S3	cervix
33	chr8:66752000-66755000	Active TSS	NHLF	lung
34	chr8:66752000-66755200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:66752000-66755400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:66752000-66755400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:66752200-66753600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr8:66752200-66753800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:66752200-66754000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr8:66752200-66754800	Active TSS	NHEK	skin
41	chr8:66752200-66755000	Active TSS	Primary T cells from cord blood	blood
42	chr8:66752200-66755000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:66752200-66755000	Active TSS	A549	lung
44	chr8:66752200-66755200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:66752200-66755600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:66752400-66753200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:66752400-66753400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:66752400-66753400	Flanking Active TSS	HUVEC	blood vessel
49	chr8:66752400-66755000	Active TSS	Brain Angular Gyrus	brain
50	chr8:66752400-66755200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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