Variant report

Variant	esv3409280
Chromosome Location	chr8:11724368-11727116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:499)
CpG islands
(count:614)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:11724597-11725205	GM12878	blood:	n/a	n/a
2	ATF2	chr8:11724806-11725122	GM12878	blood:	n/a	n/a
3	ATF3	chr8:11725482-11725723	HepG2	liver:	n/a	n/a
4	ATF3	chr8:11725467-11725700	K562	blood:	n/a	n/a
5	BCL3	chr8:11725327-11725762	A549	lung:	n/a	n/a
6	BCL3	chr8:11725383-11725760	GM12878	blood:	n/a	n/a
7	BCLAF1	chr8:11725364-11725722	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:11724848-11725040	GM12878	blood:	n/a	n/a
9	BHLHE40	chr8:11725499-11725699	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:11725436-11726052	HepG2	liver:	n/a	n/a
11	BHLHE40	chr8:11724911-11725184	K562	blood:	n/a	n/a
12	BHLHE40	chr8:11723577-11724531	K562	blood:	n/a	chr8:11724440-11724456
13	BHLHE40	chr8:11725423-11725768	K562	blood:	n/a	n/a
14	BHLHE40	chr8:11726890-11727317	HepG2	liver:	n/a	n/a
15	BHLHE40	chr8:11726001-11726018	K562	blood:	n/a	n/a
16	BRCA1	chr8:11725453-11725554	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr8:11724617-11725011	K562	blood:	n/a	n/a
18	CBX3	chr8:11723728-11724492	K562	blood:	n/a	n/a
19	CBX3	chr8:11726031-11726533	K562	blood:	n/a	n/a
20	CBX3	chr8:11725374-11725649	K562	blood:	n/a	n/a
21	CCNT2	chr8:11724104-11726088	K562	blood:	n/a	chr8:11726021-11726030
22	CEBPB	chr8:11725488-11725605	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:11725927-11725957	HepG2	liver:	n/a	n/a
24	CEBPD	chr8:11725384-11725932	HepG2	liver:	n/a	n/a
25	CEBPD	chr8:11725326-11726151	HepG2	liver:	n/a	n/a
26	CHD1	chr8:11723365-11726352	IMR90	lung:	n/a	n/a
27	CHD1	chr8:11724840-11725277	GM12878	blood:	n/a	n/a
28	CHD1	chr8:11725042-11725581	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr8:11725479-11726018	HepG2	liver:	n/a	n/a
30	CHD2	chr8:11725478-11725578	K562	blood:	n/a	n/a
31	CHD2	chr8:11724749-11724996	GM12878	blood:	n/a	n/a
32	CHD2	chr8:11725383-11725791	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr8:11725357-11726081	GM12878	blood:	n/a	n/a
34	CHD2	chr8:11726002-11726341	K562	blood:	n/a	n/a
35	CHD2	chr8:11724789-11725096	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr8:11724882-11725123	K562	blood:	n/a	n/a
37	CREB1	chr8:11725343-11725731	A549	lung:	n/a	n/a
38	CREB1	chr8:11725223-11726110	HepG2	liver:	n/a	n/a
39	CTBP2	chr8:11724846-11725424	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:11725300-11725450	GM12871	blood:	n/a	n/a
41	CTCF	chr8:11725100-11725250	GM12875	blood:	n/a	n/a
42	CTCF	chr8:11725120-11725270	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr8:11725060-11725210	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr8:11725000-11725150	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr8:11724900-11725050	GM12864	blood:	n/a	n/a
46	CTCF	chr8:11724800-11724950	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr8:11724760-11724910	GM12871	blood:	n/a	n/a
48	CTCF	chr8:11724836-11724870	GM12891	blood:	n/a	n/a
49	CTCF	chr8:11725020-11725170	GM12875	blood:	n/a	n/a
50	CTCF	chr8:11724760-11724910	HMEC	breast:	n/a	n/a

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11725492-11725542	RPTEC	kidney:	n/a
2	chr8:11725104-11725154	K562	blood:	n/a
3	chr8:11725943-11725993	GM12878	blood:	n/a
4	chr8:11726094-11726144	Caco-2	colon:	n/a
5	chr8:11725492-11725542	RPTEC	kidney:	n/a
6	chr8:11725104-11725154	K562	blood:	n/a
7	chr8:11725943-11725993	GM12878	blood:	n/a
8	chr8:11726094-11726144	Caco-2	colon:	n/a
9	chr8:11725306-11725356	HRCEpiC	kidney:	n/a
10	chr8:11726043-11726093	HCPEpiC	choroid plexus:	n/a
11	chr8:11725599-11725649	HUVEC	blood vessel:	n/a
12	chr8:11725943-11725993	AG10803	skin:	n/a
13	chr8:11725104-11725154	HMEC	breast:	n/a
14	chr8:11725596-11725646	HRE	kidney:	n/a
15	chr8:11725596-11725646	BE2_C	brain:	n/a
16	chr8:11726286-11726336	PFSK-1	brain:	n/a
17	chr8:11726094-11726144	HRPEpiC	eye:	n/a
18	chr8:11726094-11726144	MCF-7	breast:	n/a
19	chr8:11725492-11725542	NB4	blood:	n/a
20	chr8:11725104-11725154	NB4	blood:	n/a
21	chr8:11726094-11726144	A549	lung:	n/a
22	chr8:11726043-11726093	HRE	kidney:	n/a
23	chr8:11726043-11726093	SK-N-SH_RA	brain:	n/a
24	chr8:11725596-11725646	LNCaP	prostate:	n/a
25	chr8:11725599-11725649	SKMC	muscle:	n/a
26	chr8:11726286-11726336	HCF	heart:	n/a
27	chr8:11724777-11724827	NH-A	brain:	n/a
28	chr8:11726286-11726336	HCPEpiC	choroid plexus:	n/a
29	chr8:11725306-11725356	GM12892	blood:	n/a
30	chr8:11725104-11725154	U87	brain:	n/a
31	chr8:11725599-11725649	AoSMC	blood vessel:	n/a
32	chr8:11726094-11726144	Hepatocyte	liver:	n/a
33	chr8:11725943-11725993	HNPCEpiC	eye:	n/a
34	chr8:11725596-11725646	HCM	heart:	n/a
35	chr8:11725596-11725646	AG04449	skin:	fetal
36	chr8:11725599-11725649	NHBE	bronchial:	n/a
37	chr8:11725599-11725649	SK-N-MC	brain:	n/a
38	chr8:11725599-11725649	HAEpiC	amniotic membrane:	n/a
39	chr8:11725596-11725646	NH-A	brain:	n/a
40	chr8:11726286-11726336	SK-N-MC	brain:	n/a
41	chr8:11725596-11725646	HCT-116	colon:	n/a
42	chr8:11724777-11724827	PFSK-1	brain:	n/a
43	chr8:11724777-11724827	T-47D	breast:	n/a
44	chr8:11724777-11724827	MCF10A-Er-Src	breast:	n/a
45	chr8:11725306-11725356	HEK293	kidney:	embryo
46	chr8:11726094-11726144	AG04450	lung:	fetal
47	chr8:11726094-11726144	BJ	skin:	n/a
48	chr8:11726094-11726144	HRCEpiC	kidney:	n/a
49	chr8:11726286-11726336	AG04450	lung:	fetal
50	chr8:11726286-11726336	RPTEC	kidney:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
2	chr11:62608950..62609596-chr8:11725047..11725738,2	HCT-116	colon:
3	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
4	chr8:11678607..11680636-chr8:11724388..11726584,2	MCF-7	breast:
5	chr8:11659426..11661474-chr8:11724613..11726870,3	MCF-7	breast:
6	chr8:11724192..11726313-chr8:11753136..11754724,2	MCF-7	breast:
7	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
8	chr16:87902576..87903306-chr8:11724748..11725674,2	Hela-S3	cervix:
9	chr12:90102840..90103619-chr8:11725166..11725791,2	HCT-116	colon:
10	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
11	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
12	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
13	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
14	chr8:11710836..11712408-chr8:11724380..11726355,2	MCF-7	breast:
15	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
16	chr8:11695946..11697771-chr8:11722616..11724742,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSB	TF binding region
CTSB	CpG island
ENSG00000164733	chromatin interactions
ENSG00000269899	chromatin interactions
ENSG00000070961	chromatin interactions
ENSG00000079459	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000255144	chromatin interactions
ENSG00000103257	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000154328	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113236739	chr8:11724381-11724382	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs541926834	chr8:11724383-11724384	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs181455994	chr8:11724388-11724389	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs117952992	chr8:11724423-11724424	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs530833108	chr8:11724436-11724437	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs552180039	chr8:11724440-11724441	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs564489855	chr8:11724448-11724449	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs536736928	chr8:11724452-11724453	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs138560810	chr8:11724466-11724467	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs547269490	chr8:11724477-11724478	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs556429423	chr8:11724480-11724481	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568564703	chr8:11724481-11724482	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs377469632	chr8:11724501-11724502	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs576485306	chr8:11724519-11724520	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs548322620	chr8:11724522-11724523	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs151072284	chr8:11724529-11724530	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs370367856	chr8:11724557-11724558	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs569742053	chr8:11724578-11724579	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs117131539	chr8:11724589-11724590	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs7826216	chr8:11724626-11724627	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140470770	chr8:11724629-11724630	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs189578511	chr8:11724636-11724637	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs534613789	chr8:11724676-11724677	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs553190111	chr8:11724694-11724695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs141626294	chr8:11724737-11724738	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs73663033	chr8:11724738-11724739	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558926696	chr8:11724742-11724743	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs575368006	chr8:11724754-11724755	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs546269211	chr8:11724762-11724763	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs564371071	chr8:11724773-11724774	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs73663034	chr8:11724811-11724812	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs540579899	chr8:11724835-11724836	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs562335571	chr8:11724849-11724850	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs529535434	chr8:11724874-11724875	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs551226449	chr8:11724878-11724879	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs368745331	chr8:11724884-11724885	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs180857136	chr8:11724908-11724909	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs7827662	chr8:11724927-11724928	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570359832	chr8:11724935-11724936	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs534574587	chr8:11724944-11724945	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs146256879	chr8:11724975-11724976	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs148449908	chr8:11725012-11725013	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs561137082	chr8:11725034-11725035	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs535347444	chr8:11725044-11725045	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs141806376	chr8:11725051-11725052	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs186432888	chr8:11725066-11725067	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs545984675	chr8:11725105-11725106	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs150580320	chr8:11725143-11725144	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs73663035	chr8:11725155-11725156	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115920269	chr8:11725166-11725167	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
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
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
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:11719000-11724400	Weak transcription	Aorta	Aorta
6	chr8:11721200-11724800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11721600-11724400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:11721600-11724800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:11721800-11725000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr8:11722400-11724400	Enhancers	Fetal Brain Male	brain
11	chr8:11722400-11724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:11722400-11724600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr8:11722600-11724600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:11722600-11724600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:11722600-11724600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:11722600-11724600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
17	chr8:11722600-11724600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:11722600-11724600	Active TSS	Right Atrium	heart
19	chr8:11722600-11724800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr8:11722800-11724800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:11723000-11725000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr8:11723000-11726000	Active TSS	Liver	Liver
23	chr8:11723200-11724400	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:11723200-11724600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr8:11723400-11724600	Flanking Active TSS	NHEK	skin
26	chr8:11723400-11724800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:11723400-11726200	Active TSS	Fetal Kidney	kidney
28	chr8:11723400-11726400	Active TSS	Brain Substantia Nigra	brain
29	chr8:11723600-11724400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:11723600-11724400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:11723600-11724400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:11723600-11724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:11723600-11724600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr8:11723600-11724600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:11723600-11724600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:11723600-11724600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:11723600-11724600	Flanking Active TSS	Right Ventricle	heart
38	chr8:11723600-11724600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr8:11723600-11724600	Flanking Active TSS	HUVEC	blood vessel
40	chr8:11723600-11724600	Flanking Active TSS	K562	blood
41	chr8:11723600-11724800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:11723600-11724800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr8:11723600-11724800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr8:11723600-11724800	Flanking Active TSS	Placenta	Placenta
45	chr8:11723600-11724800	Flanking Active TSS	Fetal Thymus	thymus
46	chr8:11723600-11724800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr8:11723600-11724800	Flanking Active TSS	Dnd41	blood
48	chr8:11723600-11725000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr8:11723600-11725000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr8:11723600-11725000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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