Variant report

Variant	esv3374295
Chromosome Location	chr8:1770970-1774918
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	ATF3	chr8:1771788-1772056	K562	blood:	n/a	chr8:1771884-1771893 chr8:1771940-1771960 chr8:1771940-1771949
2	ATF3	chr8:1771806-1772022	H1-hESC	embryonic stem cell:	n/a	chr8:1771884-1771893 chr8:1771940-1771960 chr8:1771940-1771949
3	BACH1	chr8:1772500-1772545	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:1771322-1772099	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr8:1771793-1772093	K562	blood:	n/a	n/a
6	BHLHE40	chr8:1771338-1771455	K562	blood:	n/a	n/a
7	BRCA1	chr8:1771884-1772159	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr8:1771260-1771580	K562	blood:	n/a	n/a
9	CBX3	chr8:1771711-1772165	K562	blood:	n/a	n/a
10	CCNT2	chr8:1771724-1772142	K562	blood:	n/a	chr8:1771784-1771793
11	CEBPB	chr8:1771812-1772111	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:1771263-1771598	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr8:1771333-1772203	H1-hESC	embryonic stem cell:	n/a	chr8:1771616-1771626 chr8:1771785-1771795
14	CHD2	chr8:1771333-1772575	Hela-S3	cervix:	n/a	chr8:1772438-1772448 chr8:1772508-1772518 chr8:1771616-1771626 chr8:1771785-1771795 chr8:1772352-1772362
15	CHD2	chr8:1771658-1772195	K562	blood:	n/a	chr8:1771785-1771795
16	CREB1	chr8:1771286-1771573	A549	lung:	n/a	n/a
17	CREB1	chr8:1771668-1772168	A549	lung:	n/a	n/a
18	CREB1	chr8:1771616-1772282	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr8:1771575-1772007	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:1771620-1771770	AG04449	skin:	n/a	n/a
21	CTCF	chr8:1773514-1773544	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr8:1771901-1771988	K562	blood:	n/a	chr8:1771932-1771945
23	CTCF	chr8:1771918-1771995	Kidney_OC	kidney:	n/a	chr8:1771932-1771945
24	E2F1	chr8:1771341-1772235	Hela-S3	cervix:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793 chr8:1771974-1771985
25	E2F4	chr8:1771170-1772176	MCF10A-Er-Src	breast:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
26	E2F6	chr8:1771340-1771608	A549	lung:	n/a	n/a
27	E2F6	chr8:1771721-1772200	A549	lung:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
28	E2F6	chr8:1771152-1772281	H1-hESC	embryonic stem cell:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
29	E2F6	chr8:1771306-1772169	H1-hESC	embryonic stem cell:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
30	E2F6	chr8:1771346-1772213	K562	blood:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
31	E2F6	chr8:1771290-1771509	K562	blood:	n/a	n/a
32	E2F6	chr8:1771631-1772167	K562	blood:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
33	E2F6	chr8:1771132-1772286	A549	lung:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
34	E2F6	chr8:1772218-1772339	K562	blood:	n/a	n/a
35	E2F6	chr8:1771718-1772126	K562	blood:	n/a	chr8:1771938-1771947 chr8:1771867-1771879 chr8:1771784-1771796 chr8:1771886-1771895 chr8:1771784-1771793
36	EGR1	chr8:1771635-1772098	K562	blood:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
37	EGR1	chr8:1771560-1772210	ECC-1	luminal epithelium:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
38	EGR1	chr8:1771540-1772194	ECC-1	luminal epithelium:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
39	EGR1	chr8:1771348-1772352	HCT-116	colon:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
40	EGR1	chr8:1771637-1772136	K562	blood:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
41	EGR1	chr8:1771632-1772161	MCF-7	breast:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
42	EGR1	chr8:1771635-1772026	H1-hESC	embryonic stem cell:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
43	EGR1	chr8:1771481-1772103	H1-hESC	embryonic stem cell:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
44	EGR1	chr8:1771484-1772222	HCT-116	colon:	n/a	chr8:1771900-1771909 chr8:1771894-1771905 chr8:1771635-1771650 chr8:1771887-1771900 chr8:1771862-1771875 chr8:1771894-1771904 chr8:1771933-1771946 chr8:1771888-1771898 chr8:1771862-1771875 chr8:1771892-1771906 chr8:1771935-1771945 chr8:1771972-1771981
45	ELF1	chr8:1771361-1771678	K562	blood:	n/a	n/a
46	ELF1	chr8:1771744-1772133	K562	blood:	n/a	chr8:1771865-1771877
47	ELF1	chr8:1771263-1771572	K562	blood:	n/a	n/a
48	ELK1	chr8:1771954-1772070	Hela-S3	cervix:	n/a	n/a
49	ELK1	chr8:1771393-1771541	Hela-S3	cervix:	n/a	n/a
50	ELK1	chr8:1774511-1774537	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1772264-1772314	HAEpiC	amniotic membrane:	n/a
2	chr8:1771973-1772023	AG04450	lung:	fetal
3	chr8:1773758-1773808	HCF	heart:	n/a
4	chr8:1772264-1772314	ECC-1	luminal epithelium:	n/a
5	chr8:1772080-1772130	HepG2	liver:	n/a
6	chr8:1771561-1771611	NHBE	bronchial:	n/a
7	chr8:1772264-1772314	AG10803	skin:	n/a
8	chr8:1771973-1772023	H1-hESC	embryonic stem cell:	embryo
9	chr8:1772393-1772443	HCF	heart:	n/a
10	chr8:1772393-1772443	MCF-7	breast:	n/a
11	chr8:1771541-1771591	HAEpiC	amniotic membrane:	n/a
12	chr8:1772264-1772314	Caco-2	colon:	n/a
13	chr8:1771541-1771591	BJ	skin:	n/a
14	chr8:1771541-1771591	T-47D	breast:	n/a
15	chr8:1772080-1772130	HMEC	breast:	n/a
16	chr8:1772352-1772402	SK-N-MC	brain:	n/a
17	chr8:1773758-1773808	A549	lung:	n/a
18	chr8:1771561-1771611	SKMC	muscle:	n/a
19	chr8:1772264-1772314	IMR90	lung:	fetal
20	chr8:1773758-1773808	ovcar-3	ovarian:	n/a
21	chr8:1772264-1772314	HCPEpiC	choroid plexus:	n/a
22	chr8:1772393-1772443	A549	lung:	n/a
23	chr8:1772352-1772402	NHBE	bronchial:	n/a
24	chr8:1771561-1771611	NB4	blood:	n/a
25	chr8:1772080-1772130	HAEpiC	amniotic membrane:	n/a
26	chr8:1772393-1772443	GM19239	blood:	n/a
27	chr8:1773758-1773808	Caco-2	colon:	n/a
28	chr8:1772080-1772130	SKMC	muscle:	n/a
29	chr8:1771561-1771611	BJ	skin:	n/a
30	chr8:1772116-1772166	HRPEpiC	eye:	n/a
31	chr8:1772116-1772166	BE2_C	brain:	n/a
32	chr8:1772116-1772166	GM12891	blood:	n/a
33	chr8:1773758-1773808	SKMC	muscle:	n/a
34	chr8:1771973-1772023	AG09309	skin:	n/a
35	chr8:1772116-1772166	HAEpiC	amniotic membrane:	n/a
36	chr8:1771561-1771611	ProgFib	skin:	n/a
37	chr8:1771541-1771591	AG10803	skin:	n/a
38	chr8:1772393-1772443	HNPCEpiC	eye:	n/a
39	chr8:1771561-1771611	ECC-1	luminal epithelium:	n/a
40	chr8:1771541-1771591	SAEC	small airway:	n/a
41	chr8:1773758-1773808	AG09309	skin:	n/a
42	chr8:1772393-1772443	HCPEpiC	choroid plexus:	n/a
43	chr8:1772264-1772314	RPTEC	kidney:	n/a
44	chr8:1773758-1773808	SK-N-MC	brain:	n/a
45	chr8:1772393-1772443	HRCEpiC	kidney:	n/a
46	chr8:1772393-1772443	AoSMC	blood vessel:	n/a
47	chr8:1771541-1771591	RPTEC	kidney:	n/a
48	chr8:1771561-1771611	HCF	heart:	n/a
49	chr8:1771973-1772023	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:1771541-1771591	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:1764550..1766629-chr8:1770415..1772487,2	K562	blood:
2	chr8:1769937..1771639-chr8:1774044..1776450,2	MCF-7	breast:
3	chr8:1709347..1712341-chr8:1770235..1771752,2	MCF-7	breast:
4	chr8:1711111..1712724-chr8:1772703..1775383,2	MCF-7	breast:
5	chr8:1772602..1774106-chr8:1775619..1777566,2	K562	blood:
6	chr14:102430509..102431237-chr8:1771618..1772329,2	HCT-116	colon:
7	chr8:1708451..1710291-chr8:1769924..1772142,2	K562	blood:
8	chr8:1770355..1772056-chr8:1783670..1785482,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF10	TF binding region
ARHGEF10	CpG island
ENSG00000104728	chromatin interactions
ENSG00000207826	chromatin interactions
ENSG00000182372	chromatin interactions
ENSG00000253982	chromatin interactions
ENSG00000197102	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577560644	chr8:1770998-1770999	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs80313315	chr8:1771012-1771013	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs192356160	chr8:1771019-1771020	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs572114640	chr8:1771047-1771048	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs4875954	chr8:1771050-1771051	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs548417061	chr8:1771057-1771058	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs145423332	chr8:1771087-1771088	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs530822383	chr8:1771105-1771106	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs61413963	chr8:1771112-1771113	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571158196	chr8:1771155-1771156	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs540166068	chr8:1771164-1771165	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs547201739	chr8:1771183-1771184	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs369286230	chr8:1771206-1771207	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs567090845	chr8:1771218-1771219	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs10707247	chr8:1771238-1771239	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs535486337	chr8:1771247-1771248	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs567660580	chr8:1771249-1771250	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs546607669	chr8:1771264-1771265	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs575337501	chr8:1771292-1771293	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs537436637	chr8:1771294-1771295	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs557356963	chr8:1771303-1771304	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs577498278	chr8:1771312-1771313	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs531793888	chr8:1771384-1771385	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs553524068	chr8:1771397-1771398	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs573760238	chr8:1771486-1771487	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs184642538	chr8:1771520-1771521	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs562036393	chr8:1771523-1771524	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs531080843	chr8:1771528-1771529	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs28528841	chr8:1771562-1771563	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564507910	chr8:1771572-1771573	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs533633922	chr8:1771574-1771575	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs547319298	chr8:1771578-1771579	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs567029860	chr8:1771588-1771589	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs200323954	chr8:1771614-1771615	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs188342527	chr8:1771615-1771616	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs549601160	chr8:1771616-1771617	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs180813808	chr8:1771617-1771618	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs147323837	chr8:1771618-1771619	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs371624528	chr8:1771619-1771620	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs369269724	chr8:1771635-1771636	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs112279097	chr8:1771642-1771643	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs570934947	chr8:1771675-1771676	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs533791755	chr8:1771731-1771732	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs553661534	chr8:1771740-1771741	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs573921489	chr8:1771749-1771750	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs542454143	chr8:1771750-1771751	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs556351785	chr8:1771762-1771763	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575635213	chr8:1771821-1771822	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74678695	chr8:1771841-1771842	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs544734753	chr8:1771843-1771844	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1762000-1771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1763200-1771000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:1764000-1771000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:1765600-1771200	Weak transcription	Right Atrium	heart
5	chr8:1765800-1771000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:1765800-1771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:1766000-1771000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:1766200-1771200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:1766400-1771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:1766400-1771400	Weak transcription	Left Ventricle	heart
11	chr8:1766400-1771400	Weak transcription	Pancreas	Pancrea
12	chr8:1766600-1771600	Weak transcription	Spleen	Spleen
13	chr8:1766800-1771200	Weak transcription	NHEK	skin
14	chr8:1767800-1771600	Weak transcription	Gastric	stomach
15	chr8:1768600-1771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:1768600-1771600	Weak transcription	Lung	lung
17	chr8:1768800-1771000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:1768800-1771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:1769600-1771000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:1770200-1771000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:1770200-1771000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:1770200-1771000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:1770200-1771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:1770400-1771000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:1770400-1771200	Enhancers	Brain Anterior Caudate	brain
26	chr8:1770400-1771400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:1770600-1771000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:1770600-1771000	Enhancers	A549	lung
29	chr8:1770600-1771200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:1770600-1771200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:1770600-1771200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1770800-1771000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:1770800-1771000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr8:1770800-1771200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:1770800-1771200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:1770800-1771200	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:1770800-1771200	Enhancers	Hela-S3	cervix
38	chr8:1770800-1771200	Enhancers	HSMMtube	muscle
39	chr8:1770800-1771200	Enhancers	HUVEC	blood vessel
40	chr8:1770800-1771400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:1770800-1771400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:1770800-1771400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr8:1771000-1771200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:1771000-1771200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:1771000-1771200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:1771000-1771200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:1771000-1771200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:1771000-1771200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:1771000-1771200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:1771000-1771200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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