Variant report

Variant	esv3425765
Chromosome Location	chr8:8559367-8561915
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	BCLAF1	chr8:8559115-8559431	GM12878	blood:	n/a	n/a
2	BHLHE40	chr8:8559150-8559442	K562	blood:	n/a	n/a
3	BHLHE40	chr8:8559193-8559537	GM12878	blood:	n/a	n/a
4	BHLHE40	chr8:8559215-8559478	HepG2	liver:	n/a	n/a
5	CBX3	chr8:8559047-8559407	K562	blood:	n/a	n/a
6	CCNT2	chr8:8559110-8559705	K562	blood:	n/a	chr8:8559404-8559413
7	CEBPD	chr8:8559278-8559538	HepG2	liver:	n/a	n/a
8	CHD2	chr8:8559022-8559523	Hela-S3	cervix:	n/a	chr8:8559405-8559415
9	CHD2	chr8:8559358-8559619	GM12878	blood:	n/a	chr8:8559516-8559526 chr8:8559405-8559415
10	CHD2	chr8:8559059-8559935	H1-hESC	embryonic stem cell:	n/a	chr8:8559516-8559526 chr8:8559405-8559415
11	CREB1	chr8:8559023-8559733	A549	lung:	n/a	n/a
12	CREB1	chr8:8559021-8559561	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr8:8559681-8560152	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr8:8559022-8560357	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:8559240-8559390	A549	lung:	n/a	n/a
16	CTCF	chr8:8559760-8559910	GM12872	blood:	n/a	n/a
17	CTCF	chr8:8559119-8559396	MCF-7	breast:	n/a	chr8:8559202-8559212
18	CTCF	chr8:8559840-8559990	SAEC	small airway:	n/a	n/a
19	CTCF	chr8:8558959-8559485	K562	blood:	n/a	chr8:8559202-8559212
20	CTCF	chr8:8559300-8559450	GM12875	blood:	n/a	n/a
21	CTCF	chr8:8559118-8559394	GM12878	blood:	n/a	chr8:8559202-8559212
22	CTCF	chr8:8559400-8559550	GM12874	blood:	n/a	n/a
23	CTCF	chr8:8559300-8559450	GM12870	blood:	n/a	n/a
24	CTCF	chr8:8559125-8559376	GM12891	blood:	n/a	chr8:8559202-8559212
25	CTCF	chr8:8559520-8559670	GM12871	blood:	n/a	n/a
26	CTCF	chr8:8559260-8559410	GM12871	blood:	n/a	n/a
27	CTCF	chr8:8559117-8559385	GM19238	blood:	n/a	chr8:8559202-8559212
28	CTCF	chr8:8559131-8559378	GM19239	blood:	n/a	chr8:8559202-8559212
29	CTCF	chr8:8559388-8559403	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr8:8559119-8559393	GM12892	blood:	n/a	chr8:8559202-8559212
31	CTCF	chr8:8559032-8559377	K562	blood:	n/a	chr8:8559202-8559212
32	CTCF	chr8:8559029-8559431	K562	blood:	n/a	chr8:8559202-8559212
33	CTCF	chr8:8559260-8559410	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:8559780-8559930	GM12874	blood:	n/a	n/a
35	CTCF	chr8:8559118-8559426	MCF-7	breast:	n/a	chr8:8559202-8559212
36	E2F1	chr8:8559189-8559733	Hela-S3	cervix:	n/a	chr8:8559671-8559680 chr8:8559456-8559466
37	E2F4	chr8:8559175-8559501	MCF10A-Er-Src	breast:	n/a	chr8:8559456-8559466
38	E2F6	chr8:8558985-8559676	A549	lung:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
39	E2F6	chr8:8559021-8560636	H1-hESC	embryonic stem cell:	n/a	chr8:8559350-8559361 chr8:8559671-8559680 chr8:8559456-8559466
40	E2F6	chr8:8558987-8560695	H1-hESC	embryonic stem cell:	n/a	chr8:8559350-8559361 chr8:8559671-8559680 chr8:8559456-8559466
41	E2F6	chr8:8559220-8559648	K562	blood:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
42	E2F6	chr8:8559111-8559644	K562	blood:	n/a	chr8:8559350-8559361 chr8:8559456-8559466
43	E2F6	chr8:8559277-8559435	K562	blood:	n/a	chr8:8559350-8559361
44	EBF1	chr8:8559442-8559727	GM12878	blood:	n/a	n/a
45	EGR1	chr8:8559222-8559477	K562	blood:	n/a	n/a
46	EGR1	chr8:8559044-8559455	K562	blood:	n/a	chr8:8559161-8559168
47	ELF1	chr8:8559143-8559558	K562	blood:	n/a	n/a
48	ELF1	chr8:8559143-8559392	HepG2	liver:	n/a	n/a
49	ELF1	chr8:8559064-8559395	A549	lung:	n/a	n/a
50	ELF1	chr8:8559069-8559483	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8560934-8560984	ECC-1	luminal epithelium:	n/a
2	chr8:8560934-8560984	ECC-1	luminal epithelium:	n/a
3	chr8:8560427-8560477	PANC-1	pancreas:	n/a
4	chr8:8559999-8560049	NT2-D1	testis:	n/a
5	chr8:8560427-8560477	HUVEC	blood vessel:	n/a
6	chr8:8559673-8559723	NHBE	bronchial:	n/a
7	chr8:8560866-8560916	SKMC	muscle:	n/a
8	chr8:8559673-8559723	LNCaP	prostate:	n/a
9	chr8:8560866-8560916	CMK	blood:	n/a
10	chr8:8560934-8560984	T-47D	breast:	n/a
11	chr8:8560934-8560984	RPTEC	kidney:	n/a
12	chr8:8559673-8559723	Jurkat	blood:	n/a
13	chr8:8559461-8559511	GM12878	blood:	n/a
14	chr8:8560866-8560916	K562	blood:	n/a
15	chr8:8559999-8560049	SK-N-SH	brain:	n/a
16	chr8:8559678-8559728	NT2-D1	testis:	n/a
17	chr8:8560934-8560984	A549	lung:	n/a
18	chr8:8559461-8559511	HCT-116	colon:	n/a
19	chr8:8559461-8559511	HL-60	blood:	n/a
20	chr8:8560427-8560477	GM12892	blood:	n/a
21	chr8:8559461-8559511	PANC-1	pancreas:	n/a
22	chr8:8559999-8560049	AG10803	skin:	n/a
23	chr8:8559678-8559728	HRE	kidney:	n/a
24	chr8:8559999-8560049	MCF10A-Er-Src	breast:	n/a
25	chr8:8560427-8560477	SK-N-MC	brain:	n/a
26	chr8:8559999-8560049	MCF-7	breast:	n/a
27	chr8:8560934-8560984	H1-hESC	embryonic stem cell:	embryo
28	chr8:8560934-8560984	BE2_C	brain:	n/a
29	chr8:8560866-8560916	ECC-1	luminal epithelium:	n/a
30	chr8:8559673-8559723	HepG2	liver:	n/a
31	chr8:8559673-8559723	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:8560934-8560984	PANC-1	pancreas:	n/a
33	chr8:8560866-8560916	HCT-116	colon:	n/a
34	chr8:8560866-8560916	HNPCEpiC	eye:	n/a
35	chr8:8560934-8560984	HCM	heart:	n/a
36	chr8:8560934-8560984	GM12878	blood:	n/a
37	chr8:8559999-8560049	HCF	heart:	n/a
38	chr8:8559999-8560049	CMK	blood:	n/a
39	chr8:8559999-8560049	K562	blood:	n/a
40	chr8:8559673-8559723	HMEC	breast:	n/a
41	chr8:8559673-8559723	AG09309	skin:	n/a
42	chr8:8560427-8560477	HEEpiC	esophagus:	n/a
43	chr8:8560866-8560916	GM06990	blood:	n/a
44	chr8:8560866-8560916	GM12878	blood:	n/a
45	chr8:8559678-8559728	PFSK-1	brain:	n/a
46	chr8:8560427-8560477	HEK293	kidney:	embryo
47	chr8:8559673-8559723	GM12891	blood:	n/a
48	chr8:8559678-8559728	HCF	heart:	n/a
49	chr8:8559678-8559728	HCPEpiC	choroid plexus:	n/a
50	chr8:8559678-8559728	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8556386..8558383-chr8:8560900..8563538,2	K562	blood:
2	chr15:56285724..56286656-chr8:8559373..8559873,2	Hela-S3	cervix:
3	chr8:8560907..8563057-chr8:8567449..8569715,2	MCF-7	breast:

Variant related genes	Relation type
CLDN23	TF binding region
ENSG00000176305	TF binding region
CLDN23	CpG island
ENSG00000176305	CpG island
ENSG00000069869	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs58447848	chr8:8559368-8559369	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs374325620	chr8:8559374-8559375	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556409590	chr8:8559391-8559392	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11783670	chr8:8559394-8559395	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs535521721	chr8:8559395-8559396	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555808041	chr8:8559396-8559397	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs11776987	chr8:8559401-8559402	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs112464434	chr8:8559426-8559427	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554076606	chr8:8559494-8559495	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34491508	chr8:8559508-8559509	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs532685990	chr8:8559521-8559522	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545960884	chr8:8559529-8559530	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11783735	chr8:8559583-8559584	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs10113115	chr8:8559588-8559589	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs541486254	chr8:8559602-8559603	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561363804	chr8:8559612-8559613	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527267148	chr8:8559616-8559617	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11781257	chr8:8559663-8559664	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs571110001	chr8:8559678-8559679	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186100732	chr8:8559692-8559693	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141287177	chr8:8559712-8559713	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10100895	chr8:8559717-8559718	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112989417	chr8:8559726-8559727	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555861396	chr8:8559756-8559757	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566099565	chr8:8559783-8559784	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75780384	chr8:8559831-8559832	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9644774	chr8:8559832-8559833	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs577055353	chr8:8559867-8559868	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114568694	chr8:8559869-8559870	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375802466	chr8:8559871-8559872	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576124419	chr8:8559883-8559884	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560668302	chr8:8559895-8559896	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11995449	chr8:8559898-8559899	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561426764	chr8:8559900-8559901	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116706669	chr8:8559901-8559902	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540615917	chr8:8559912-8559913	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61754917	chr8:8559917-8559918	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368361119	chr8:8559956-8559957	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190963991	chr8:8559968-8559969	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367750166	chr8:8559980-8559981	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371447820	chr8:8559988-8559989	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550165726	chr8:8559992-8559993	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563920886	chr8:8560013-8560014	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529480721	chr8:8560017-8560018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202151198	chr8:8560021-8560022	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376858036	chr8:8560078-8560079	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369577087	chr8:8560083-8560084	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373271097	chr8:8560084-8560085	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372856858	chr8:8560090-8560091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376562179	chr8:8560091-8560092	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8558400-8559800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:8558400-8559800	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:8558400-8559800	Active TSS	GM12878-XiMat	blood
4	chr8:8558400-8560000	Active TSS	Fetal Lung	lung
5	chr8:8558400-8560000	Active TSS	Hela-S3	cervix
6	chr8:8558400-8560200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:8558400-8560200	Active TSS	A549	lung
8	chr8:8558400-8560200	Active TSS	NHLF	lung
9	chr8:8558400-8560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:8558400-8562800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:8558600-8559600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:8558600-8559600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:8558600-8559600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8558600-8559600	Active TSS	Brain Hippocampus Middle	brain
15	chr8:8558600-8559600	Active TSS	Colonic Mucosa	Colon
16	chr8:8558600-8559600	Active TSS	Right Atrium	heart
17	chr8:8558600-8559800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:8558600-8559800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:8558600-8559800	Active TSS	Duodenum Mucosa	Duodenum
20	chr8:8558600-8559800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:8558600-8559800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr8:8558600-8559800	Active TSS	HepG2	liver
23	chr8:8558600-8559800	Active TSS	K562	blood
24	chr8:8558600-8560000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:8558600-8560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:8558600-8560000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:8558600-8560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:8558600-8560000	Active TSS	Brain Angular Gyrus	brain
29	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr8:8558600-8560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr8:8558600-8560000	Active TSS	Psoas Muscle	Psoas
32	chr8:8558600-8560000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:8558600-8560000	Bivalent/Poised TSS	NH-A	brain
34	chr8:8558600-8560000	Active TSS	NHDF-Ad	bronchial
35	chr8:8558600-8560200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:8558600-8560200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:8558600-8560200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:8558600-8560200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:8558600-8560200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr8:8558600-8560200	Active TSS	Aorta	Aorta
42	chr8:8558600-8560200	Active TSS	Brain Substantia Nigra	brain
43	chr8:8558600-8560200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:8558600-8560200	Active TSS	Ovary	ovary
45	chr8:8558600-8560400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr8:8558600-8560600	Active TSS	Brain Anterior Caudate	brain
47	chr8:8558600-8560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:8558800-8559400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr8:8558800-8559400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr8:8558800-8559400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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