Variant report

Variant	esv3408824
Chromosome Location	chr8:86375225-86378073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:475)
CpG islands
(count:489)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:475 , 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	ARID3A	chr8:86375408-86375608	K562	blood:	n/a	n/a
2	ATF2	chr8:86375277-86375647	GM12878	blood:	n/a	n/a
3	BACH1	chr8:86375322-86375896	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:86375517-86375618	K562	blood:	n/a	n/a
5	BACH1	chr8:86376436-86376638	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr8:86375357-86375764	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:86375361-86375709	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:86375452-86375647	K562	blood:	n/a	n/a
9	BHLHE40	chr8:86376459-86376495	GM12878	blood:	n/a	n/a
10	CCNT2	chr8:86375511-86375657	K562	blood:	n/a	n/a
11	CCNT2	chr8:86376240-86376362	K562	blood:	n/a	n/a
12	CHD1	chr8:86376351-86376654	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr8:86375451-86375973	Hela-S3	cervix:	n/a	chr8:86375783-86375790
14	CHD2	chr8:86375482-86375688	K562	blood:	n/a	n/a
15	CHD2	chr8:86376556-86376599	HepG2	liver:	n/a	n/a
16	CHD2	chr8:86375434-86375666	GM12878	blood:	n/a	n/a
17	CHD2	chr8:86375400-86375871	H1-hESC	embryonic stem cell:	n/a	chr8:86375783-86375790
18	CREB1	chr8:86375406-86375740	A549	lung:	n/a	n/a
19	CTBP2	chr8:86376244-86376655	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:86375480-86375630	GM12873	blood:	n/a	chr8:86375565-86375578
21	CTCF	chr8:86375500-86375650	SAEC	small airway:	n/a	chr8:86375565-86375578
22	CTCF	chr8:86376310-86376353	GM12892	blood:	n/a	n/a
23	CTCF	chr8:86375520-86375670	GM12869	blood:	n/a	chr8:86375565-86375578
24	CTCF	chr8:86375540-86375690	RPTEC	kidney:	n/a	chr8:86375565-86375578
25	CTCF	chr8:86375500-86375650	HFF-Myc	foreskin:	n/a	chr8:86375565-86375578
26	CTCF	chr8:86375106-86375928	A549	lung:	n/a	chr8:86375565-86375578
27	CTCF	chr8:86375480-86375630	HMF	breast:	n/a	chr8:86375565-86375578
28	CTCF	chr8:86376234-86376379	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:86375520-86375670	GM12873	blood:	n/a	chr8:86375565-86375578
30	CTCF	chr8:86375480-86375630	HPF	lung:	n/a	chr8:86375565-86375578
31	CTCF	chr8:86376420-86376570	GM12878	blood:	n/a	n/a
32	CTCF	chr8:86376280-86376594	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:86375229-86375897	MCF-7	breast:	n/a	chr8:86375565-86375578
34	CTCF	chr8:86377600-86377750	MCF-7	breast:	n/a	n/a
35	CTCF	chr8:86375428-86375712	GM10266	blood:	n/a	chr8:86375565-86375578
36	CTCF	chr8:86375446-86375676	GM20000	blood:	n/a	chr8:86375565-86375578
37	CTCF	chr8:86375199-86376031	MCF-7	breast:	n/a	chr8:86375565-86375578
38	CTCF	chr8:86375500-86375650	Caco-2	colon:	n/a	chr8:86375565-86375578
39	CTCF	chr8:86375520-86375670	HMEC	breast:	n/a	chr8:86375565-86375578
40	CTCF	chr8:86375500-86375650	GM12872	blood:	n/a	chr8:86375565-86375578
41	CTCF	chr8:86375437-86375703	Hela-S3	cervix:	n/a	chr8:86375565-86375578
42	CTCF	chr8:86376380-86376530	GM12875	blood:	n/a	n/a
43	CTCF	chr8:86375520-86375670	HCT-116	colon:	n/a	chr8:86375565-86375578
44	CTCF	chr8:86376340-86376490	GM12868	blood:	n/a	n/a
45	CTCF	chr8:86375500-86375650	NHEK	skin:	n/a	chr8:86375565-86375578
46	CTCF	chr8:86376340-86376490	GM12864	blood:	n/a	n/a
47	CTCF	chr8:86375418-86375716	MCF-7	breast:	n/a	chr8:86375565-86375578
48	CTCF	chr8:86375500-86375650	HPF	lung:	n/a	chr8:86375565-86375578
49	CTCF	chr8:86375430-86375713	Kidney_OC	kidney:	n/a	chr8:86375565-86375578
50	CTCF	chr8:86375520-86375670	HFF-Myc	foreskin:	n/a	chr8:86375565-86375578

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86376088-86376138	NH-A	brain:	n/a
2	chr8:86376088-86376138	NH-A	brain:	n/a
3	chr8:86375501-86375551	A549	lung:	n/a
4	chr8:86376306-86376356	GM19239	blood:	n/a
5	chr8:86376277-86376327	K562	blood:	n/a
6	chr8:86375450-86375500	AG09319	gingival:	n/a
7	chr8:86376088-86376138	HIPEpiC	eye:	n/a
8	chr8:86375450-86375500	NHBE	bronchial:	n/a
9	chr8:86376277-86376327	SK-N-SH	brain:	n/a
10	chr8:86376842-86376892	ovcar-3	ovarian:	n/a
11	chr8:86376088-86376138	HCF	heart:	n/a
12	chr8:86375501-86375551	NT2-D1	testis:	n/a
13	chr8:86375450-86375500	GM12892	blood:	n/a
14	chr8:86375450-86375500	Jurkat	blood:	n/a
15	chr8:86376088-86376138	GM12878	blood:	n/a
16	chr8:86376088-86376138	NHDF-neo	bronchial:	n/a
17	chr8:86376277-86376327	SKMC	muscle:	n/a
18	chr8:86376277-86376327	PANC-1	pancreas:	n/a
19	chr8:86376842-86376892	NHBE	bronchial:	n/a
20	chr8:86376277-86376327	H1-hESC	embryonic stem cell:	embryo
21	chr8:86375450-86375500	Hepatocyte	liver:	n/a
22	chr8:86376306-86376356	IMR90	lung:	fetal
23	chr8:86375450-86375500	HRCEpiC	kidney:	n/a
24	chr8:86376306-86376356	A549	lung:	n/a
25	chr8:86375919-86375969	HRCEpiC	kidney:	n/a
26	chr8:86376306-86376356	HEEpiC	esophagus:	n/a
27	chr8:86376489-86376539	SK-N-SH_RA	brain:	n/a
28	chr8:86375919-86375969	SK-N-SH_RA	brain:	n/a
29	chr8:86375919-86375969	GM06990	blood:	n/a
30	chr8:86375919-86375969	SK-N-SH	brain:	n/a
31	chr8:86376842-86376892	AoSMC	blood vessel:	n/a
32	chr8:86375919-86375969	BJ	skin:	n/a
33	chr8:86375919-86375969	HCM	heart:	n/a
34	chr8:86376088-86376138	BE2_C	brain:	n/a
35	chr8:86376842-86376892	Jurkat	blood:	n/a
36	chr8:86376842-86376892	HL-60	blood:	n/a
37	chr8:86376842-86376892	MCF10A-Er-Src	breast:	n/a
38	chr8:86376842-86376892	SKMC	muscle:	n/a
39	chr8:86376489-86376539	Jurkat	blood:	n/a
40	chr8:86376306-86376356	NT2-D1	testis:	n/a
41	chr8:86376306-86376356	SAEC	small airway:	n/a
42	chr8:86375450-86375500	RPTEC	kidney:	n/a
43	chr8:86376842-86376892	SK-N-SH_RA	brain:	n/a
44	chr8:86375501-86375551	T-47D	breast:	n/a
45	chr8:86376489-86376539	LNCaP	prostate:	n/a
46	chr8:86376842-86376892	HEEpiC	esophagus:	n/a
47	chr8:86376489-86376539	HRPEpiC	eye:	n/a
48	chr8:86375501-86375551	HCPEpiC	choroid plexus:	n/a
49	chr8:86376088-86376138	CMK	blood:	n/a
50	chr8:86376277-86376327	ProgFib	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:
2	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:
3	chr8:86375382..86376006-chr8:87045172..87046083,3	MCF-7	breast:
4	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:
5	chr8:86373793..86376899-chr8:86998896..87001584,3	MCF-7	breast:
6	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
7	chr22:36782277..36784307-chr8:86374266..86376495,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA1-1	chr8:86375661-86375942	NONHSAT127529
2	lnc-CA1-1	chr8:86375161-86375671	NONHSAT127527
3	lnc-CA1-1	chr8:86376457-86376562	ENSG00000253549.1
4	lnc-CA1-1	chr8:86375161-86375283	ENSG00000253549.1
5	lnc-CA1-1	chr8:86376811-86377144	ENSG00000253549.1

No data

Variant related genes	Relation type
ENSG00000253549	TF binding region
CA2	TF binding region
ENSG00000253549	CpG island
CA2	CpG island
ENSG00000147614	chromatin interactions
ENSG00000253154	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000100345	chromatin interactions
ENSG00000164879	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548248502	chr8:86375248-86375249	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs188536081	chr8:86375274-86375275	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs527758423	chr8:86375286-86375287	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs191828008	chr8:86375307-86375308	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs117219547	chr8:86375312-86375313	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs539774287	chr8:86375336-86375337	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs113908603	chr8:86375347-86375348	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs146646049	chr8:86375349-86375350	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs77250341	chr8:86375406-86375407	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs535438531	chr8:86375469-86375470	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs115206105	chr8:86375478-86375479	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs572127249	chr8:86375492-86375493	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs370217781	chr8:86375499-86375500	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs3758077	chr8:86375503-86375504	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs553978186	chr8:86375518-86375519	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs3758076	chr8:86375535-86375536	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs116241675	chr8:86375542-86375543	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs545086297	chr8:86375546-86375547	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs112126108	chr8:86375596-86375597	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs183113255	chr8:86375626-86375627	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs542232796	chr8:86375634-86375635	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs561902787	chr8:86375647-86375648	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs527822865	chr8:86375674-86375675	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs541146456	chr8:86375689-86375690	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs564961640	chr8:86375701-86375702	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs564317366	chr8:86375725-86375726	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs572192705	chr8:86375726-86375727	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs533150248	chr8:86375727-86375728	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs188198232	chr8:86375764-86375765	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs549959366	chr8:86375806-86375807	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs374947985	chr8:86375857-86375858	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs529147093	chr8:86375877-86375878	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs548979293	chr8:86375984-86375985	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs77895131	chr8:86375998-86375999	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs191493709	chr8:86376081-86376082	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs11261477	chr8:86376130-86376131	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs557422827	chr8:86376173-86376174	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs570970117	chr8:86376181-86376182	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs539649032	chr8:86376220-86376221	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs370317596	chr8:86376264-86376265	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs556311734	chr8:86376268-86376269	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs372555587	chr8:86376325-86376326	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs375803253	chr8:86376362-86376363	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs370073788	chr8:86376366-86376367	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs112719994	chr8:86376369-86376370	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs556322781	chr8:86376376-86376377	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs553482175	chr8:86376383-86376384	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs576691274	chr8:86376390-86376391	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs2291606	chr8:86376396-86376397	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs142405644	chr8:86376401-86376402	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86354400-86375400	Weak transcription	Psoas Muscle	Psoas
2	chr8:86358400-86375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:86367600-86375600	Weak transcription	Gastric	stomach
4	chr8:86368400-86375400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:86368600-86375600	Weak transcription	Esophagus	oesophagus
6	chr8:86369200-86375400	Enhancers	Primary B cells from cord blood	blood
7	chr8:86370400-86375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:86372000-86375400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:86372200-86375400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:86372200-86375400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:86373800-86375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:86373800-86375400	Enhancers	Fetal Lung	lung
13	chr8:86374000-86375400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:86374000-86375400	Enhancers	Adipose Nuclei	Adipose
15	chr8:86374000-86375400	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:86374000-86375600	Enhancers	Stomach Mucosa	stomach
17	chr8:86374200-86375400	Weak transcription	Colonic Mucosa	Colon
18	chr8:86374400-86375400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:86374400-86375600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:86374600-86375400	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:86374600-86375400	Enhancers	Liver	Liver
22	chr8:86374800-86375400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:86374800-86375400	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:86374800-86375400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:86375000-86375400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:86375000-86375400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:86375000-86375400	Enhancers	HMEC	breast
28	chr8:86375200-86375400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:86375200-86375400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:86375200-86375400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:86375200-86375400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr8:86375200-86375400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:86375200-86375400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:86375200-86375400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:86375200-86375400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:86375200-86375400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:86375200-86375400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:86375200-86375400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:86375200-86375400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:86375200-86375400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:86375200-86375400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:86375200-86375400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr8:86375200-86375400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr8:86375200-86375400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:86375200-86375400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:86375200-86375400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:86375200-86375400	Enhancers	Duodenum Mucosa	Duodenum

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