Variant report

Variant	esv3343914
Chromosome Location	chr8:19613297-19615845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:672)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr8:19615182-19615522	A549	lung:	n/a	n/a
2	BACH1	chr8:19615015-19615572	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:19614322-19614755	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr8:19615141-19615736	A549	lung:	n/a	n/a
5	BCL3	chr8:19615043-19615926	A549	lung:	n/a	n/a
6	BHLHE40	chr8:19614152-19614377	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:19614629-19614637	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:19615130-19615518	K562	blood:	n/a	n/a
9	BRCA1	chr8:19615359-19615662	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr8:19614662-19614999	K562	blood:	n/a	n/a
11	CEBPB	chr8:19615310-19615771	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:19615306-19615868	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:19615384-19615606	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:19615318-19615744	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr8:19615274-19615789	MCF-7	breast:	n/a	n/a
16	CEBPB	chr8:19615309-19615707	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:19615043-19615946	A549	lung:	n/a	n/a
18	CEBPB	chr8:19615298-19616422	A549	lung:	n/a	n/a
19	CEBPB	chr8:19613048-19614155	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr8:19615304-19615776	K562	blood:	n/a	n/a
21	CEBPB	chr8:19615218-19615888	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr8:19615237-19615822	A549	lung:	n/a	n/a
23	CHD2	chr8:19613887-19615748	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr8:19614422-19615167	A549	lung:	n/a	n/a
25	CREB1	chr8:19614845-19615526	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr8:19614773-19615223	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr8:19615324-19615696	A549	lung:	n/a	n/a
28	CTBP2	chr8:19613919-19615780	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr8:19614272-19616595	A549	lung:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19615938-19615946 chr8:19615985-19615994 chr8:19614487-19614500 chr8:19614446-19614459 chr8:19614661-19614674 chr8:19614443-19614461
30	CTCF	chr8:19615380-19615530	HRE	kidney:	n/a	chr8:19615513-19615526
31	CTCF	chr8:19615263-19615617	A549	lung:	n/a	chr8:19615513-19615526
32	CTCF	chr8:19615740-19615890	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr8:19615380-19615530	HPAF	blood vessel:	n/a	chr8:19615513-19615526
34	CTCF	chr8:19614980-19615130	AG04449	skin:	n/a	n/a
35	CTCF	chr8:19615260-19615410	HAc	cerebellar:	n/a	n/a
36	CTCF	chr8:19615360-19615510	GM12875	blood:	n/a	n/a
37	CTCF	chr8:19615340-19615490	GM12873	blood:	n/a	n/a
38	CTCF	chr8:19614581-19614583	GM19240	blood:	n/a	n/a
39	CTCF	chr8:19614580-19614730	AG04449	skin:	n/a	chr8:19614661-19614674
40	CTCF	chr8:19615360-19615510	BE2_C	brain:	n/a	n/a
41	CTCF	chr8:19615820-19615970	GM12871	blood:	n/a	chr8:19615938-19615946
42	CTCF	chr8:19615293-19615560	ProgFib	skin:	n/a	chr8:19615513-19615526
43	CTCF	chr8:19615253-19615605	GM12878	blood:	n/a	chr8:19615513-19615526
44	CTCF	chr8:19614960-19615110	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr8:19615420-19615570	HFF	foreskin:	n/a	chr8:19615513-19615526
46	CTCF	chr8:19615340-19615490	HPF	lung:	n/a	n/a
47	CTCF	chr8:19615380-19615530	HEK293	kidney:	n/a	chr8:19615513-19615526
48	CTCF	chr8:19615380-19615530	WERI-Rb-1	eye:	n/a	chr8:19615513-19615526
49	CTCF	chr8:19614640-19614790	GM12874	blood:	n/a	chr8:19614729-19614742 chr8:19614661-19614674
50	CTCF	chr8:19615360-19615510	HA-sp	spinal cord:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:19614302-19614352	GM12878	blood:	n/a
2	chr8:19614302-19614352	GM12878	blood:	n/a
3	chr8:19614302-19614352	AoSMC	blood vessel:	n/a
4	chr8:19615394-19615444	K562	blood:	n/a
5	chr8:19615741-19615791	HL-60	blood:	n/a
6	chr8:19615394-19615444	ovcar-3	ovarian:	n/a
7	chr8:19615741-19615791	MCF-7	breast:	n/a
8	chr8:19615412-19615462	PrEC	prostate:	n/a
9	chr8:19615514-19615564	SK-N-SH	brain:	n/a
10	chr8:19615412-19615462	HRE	kidney:	n/a
11	chr8:19614157-19614207	HMEC	breast:	n/a
12	chr8:19615394-19615444	SK-N-SH	brain:	n/a
13	chr8:19614776-19614826	ovcar-3	ovarian:	n/a
14	chr8:19615741-19615791	NH-A	brain:	n/a
15	chr8:19614776-19614826	NB4	blood:	n/a
16	chr8:19614776-19614826	ProgFib	skin:	n/a
17	chr8:19614946-19614996	GM12891	blood:	n/a
18	chr8:19614946-19614996	NB4	blood:	n/a
19	chr8:19614776-19614826	HIPEpiC	eye:	n/a
20	chr8:19615741-19615791	NT2-D1	testis:	n/a
21	chr8:19614946-19614996	HCT-116	colon:	n/a
22	chr8:19614776-19614826	GM12891	blood:	n/a
23	chr8:19615514-19615564	NHBE	bronchial:	n/a
24	chr8:19615514-19615564	GM12891	blood:	n/a
25	chr8:19614946-19614996	HCPEpiC	choroid plexus:	n/a
26	chr8:19614776-19614826	SK-N-SH	brain:	n/a
27	chr8:19614157-19614207	T-47D	breast:	n/a
28	chr8:19614302-19614352	U87	brain:	n/a
29	chr8:19615514-19615564	HL-60	blood:	n/a
30	chr8:19614776-19614826	ECC-1	luminal epithelium:	n/a
31	chr8:19614776-19614826	HRCEpiC	kidney:	n/a
32	chr8:19615134-19615184	HEK293	kidney:	embryo
33	chr8:19614302-19614352	HEK293	kidney:	embryo
34	chr8:19614302-19614352	GM06990	blood:	n/a
35	chr8:19615741-19615791	LNCaP	prostate:	n/a
36	chr8:19614407-19614457	GM19239	blood:	n/a
37	chr8:19614157-19614207	HCPEpiC	choroid plexus:	n/a
38	chr8:19614302-19614352	ovcar-3	ovarian:	n/a
39	chr8:19615134-19615184	HL-60	blood:	n/a
40	chr8:19614407-19614457	HIPEpiC	eye:	n/a
41	chr8:19615077-19615127	HCPEpiC	choroid plexus:	n/a
42	chr8:19614157-19614207	GM19239	blood:	n/a
43	chr8:19615741-19615791	HRCEpiC	kidney:	n/a
44	chr8:19614407-19614457	HCF	heart:	n/a
45	chr8:19614946-19614996	BE2_C	brain:	n/a
46	chr8:19615514-19615564	HEK293	kidney:	embryo
47	chr8:19615412-19615462	GM19239	blood:	n/a
48	chr8:19615412-19615462	SK-N-MC	brain:	n/a
49	chr8:19615394-19615444	MCF10A-Er-Src	breast:	n/a
50	chr8:19615514-19615564	GM12878	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19316428..19318779-chr8:19615686..19617194,2	MCF-7	breast:
2	chr8:19169020..19171370-chr8:19612921..19614479,2	MCF-7	breast:
3	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
4	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:
5	chr8:19265621..19266481-chr8:19615795..19616681,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD3-3	chr8:19614697-19614728	NONHSAT125379

No data

Variant related genes	Relation type
CSGALNACT1	TF binding region
CSGALNACT1	CpG island
ENSG00000147408	chromatin interactions
ENSG00000104611	chromatin interactions
ENSG00000253270	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546761358	chr8:19613323-19613324	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573447057	chr8:19613348-19613349	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566886269	chr8:19613376-19613377	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535497919	chr8:19613410-19613411	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111244317	chr8:19613450-19613451	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376409918	chr8:19613455-19613456	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139713969	chr8:19613467-19613468	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143607982	chr8:19613485-19613486	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538135145	chr8:19613510-19613511	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12676683	chr8:19613524-19613525	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577750201	chr8:19613533-19613534	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34316857	chr8:19613537-19613538	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187531972	chr8:19613558-19613559	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114213035	chr8:19613571-19613572	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542265923	chr8:19613576-19613577	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12114668	chr8:19613586-19613587	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140627761	chr8:19613596-19613597	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149738067	chr8:19613684-19613685	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564374299	chr8:19613712-19613713	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544671852	chr8:19613732-19613733	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535231963	chr8:19613737-19613738	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201103356	chr8:19613738-19613739	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1492634	chr8:19613739-19613740	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114830917	chr8:19613750-19613751	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1492635	chr8:19613762-19613763	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535898285	chr8:19613781-19613782	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75602487	chr8:19613786-19613787	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542245548	chr8:19613803-19613804	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569266570	chr8:19613815-19613816	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560979918	chr8:19613820-19613821	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528372917	chr8:19613870-19613871	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs13252421	chr8:19613947-19613948	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558065893	chr8:19613982-19613983	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs10101032	chr8:19614013-19614014	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138997721	chr8:19614029-19614030	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533765164	chr8:19614048-19614049	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs553889995	chr8:19614049-19614050	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573656548	chr8:19614050-19614051	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs28428748	chr8:19614064-19614065	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562182733	chr8:19614072-19614073	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs550821416	chr8:19614132-19614133	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs114059355	chr8:19614141-19614142	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs6995621	chr8:19614147-19614148	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10103941	chr8:19614160-19614161	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533636589	chr8:19614199-19614200	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374263995	chr8:19614251-19614252	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs138612796	chr8:19614254-19614255	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs546883662	chr8:19614292-19614293	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs560734908	chr8:19614298-19614299	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs148400244	chr8:19614303-19614304	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19588600-19613400	Weak transcription	Pancreas	Pancrea
2	chr8:19603800-19613800	Weak transcription	Ovary	ovary
3	chr8:19604600-19614000	Weak transcription	Aorta	Aorta
4	chr8:19604800-19614000	Weak transcription	Spleen	Spleen
5	chr8:19608000-19613400	Weak transcription	Left Ventricle	heart
6	chr8:19609400-19613400	Weak transcription	Gastric	stomach
7	chr8:19609400-19613400	Weak transcription	Right Ventricle	heart
8	chr8:19609800-19613400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:19610000-19613400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:19610000-19613400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:19610000-19613400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:19610800-19613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:19610800-19613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:19611600-19613400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:19611800-19614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:19612000-19613400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:19612000-19614000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr8:19612200-19613400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:19612400-19613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:19612400-19613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:19612600-19614000	Bivalent/Poised TSS	Fetal Brain Male	brain
22	chr8:19612600-19615200	Active TSS	Brain Anterior Caudate	brain
23	chr8:19612600-19615600	Active TSS	A549	lung
24	chr8:19612800-19613400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:19613000-19613400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:19613000-19613400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:19613000-19613400	Bivalent Enhancer	Thymus	Thymus
28	chr8:19613000-19613600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:19613000-19613800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:19613000-19613800	Bivalent Enhancer	Fetal Thymus	thymus
31	chr8:19613000-19613800	Bivalent Enhancer	HepG2	liver
32	chr8:19613000-19614000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:19613000-19614200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:19613000-19614400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
36	chr8:19613200-19613400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr8:19613200-19613600	Active TSS	Brain Cingulate Gyrus	brain
38	chr8:19613200-19613600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:19613200-19613600	Flanking Active TSS	Osteobl	bone
40	chr8:19613200-19613800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr8:19613200-19613800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:19613200-19613800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:19613200-19613800	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr8:19613200-19614000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr8:19613200-19614000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:19613200-19614000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr8:19613200-19614000	Flanking Active TSS	Hela-S3	cervix
48	chr8:19613200-19614200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr8:19613200-19614200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr8:19613200-19614200	Active TSS	Psoas Muscle	Psoas

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