Variant report

Variant	esv3355358
Chromosome Location	chr8:61590823-61593571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:720)
CpG islands
(count:672)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:61590920-61591120	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:61593545-61594034	HepG2	liver:	n/a	n/a
3	BACH1	chr8:61592278-61592518	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:61591471-61591593	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr8:61590647-61591239	GM12878	blood:	n/a	chr8:61590872-61590881 chr8:61591105-61591114 chr8:61590987-61591000
6	BCLAF1	chr8:61590827-61591194	GM12878	blood:	n/a	chr8:61590872-61590881 chr8:61591105-61591114 chr8:61590987-61591000
7	BHLHE40	chr8:61590963-61591612	GM12878	blood:	n/a	chr8:61590997-61591013 chr8:61591549-61591565 chr8:61590992-61591008
8	BHLHE40	chr8:61591029-61591114	K562	blood:	n/a	n/a
9	BHLHE40	chr8:61591945-61592141	K562	blood:	n/a	n/a
10	BHLHE40	chr8:61591969-61592133	GM12878	blood:	n/a	n/a
11	BRCA1	chr8:61591591-61591640	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr8:61591024-61591101	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr8:61592639-61592724	H1-hESC	embryonic stem cell:	n/a	n/a
14	CCNT2	chr8:61590709-61593275	K562	blood:	n/a	chr8:61592658-61592667 chr8:61592537-61592546
15	CEBPB	chr8:61591030-61591201	K562	blood:	n/a	n/a
16	CEBPB	chr8:61590398-61591278	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr8:61590998-61591209	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:61591022-61591278	IMR90	lung:	n/a	n/a
19	CEBPB	chr8:61593560-61594094	Hela-S3	cervix:	n/a	chr8:61593899-61593908 chr8:61593897-61593908
20	CEBPB	chr8:61591028-61591229	A549	lung:	n/a	n/a
21	CEBPD	chr8:61590776-61591114	HepG2	liver:	n/a	n/a
22	CEBPD	chr8:61591783-61592204	HepG2	liver:	n/a	n/a
23	CHD1	chr8:61592038-61592047	GM12878	blood:	n/a	n/a
24	CHD1	chr8:61592469-61592682	H1-hESC	embryonic stem cell:	n/a	chr8:61592652-61592662 chr8:61592562-61592572
25	CHD1	chr8:61593535-61593722	GM12878	blood:	n/a	n/a
26	CHD1	chr8:61593040-61593876	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr8:61591991-61592027	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr8:61592732-61592801	GM12878	blood:	n/a	n/a
29	CHD1	chr8:61590516-61591058	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr8:61591420-61591608	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr8:61590820-61592056	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr8:61592625-61592653	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr8:61591451-61591790	HepG2	liver:	n/a	n/a
34	CHD2	chr8:61590743-61590919	HepG2	liver:	n/a	n/a
35	CHD2	chr8:61592554-61592733	HepG2	liver:	n/a	chr8:61592652-61592662 chr8:61592562-61592572
36	CHD2	chr8:61593042-61593174	K562	blood:	n/a	n/a
37	CHD2	chr8:61591531-61591656	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr8:61592026-61592031	GM12878	blood:	n/a	n/a
39	CHD2	chr8:61591534-61591647	GM12878	blood:	n/a	n/a
40	CHD2	chr8:61592546-61593356	Hela-S3	cervix:	n/a	chr8:61592652-61592662 chr8:61592562-61592572
41	CHD2	chr8:61592452-61592468	K562	blood:	n/a	n/a
42	CHD2	chr8:61592491-61592646	GM12878	blood:	n/a	chr8:61592562-61592572
43	CHD2	chr8:61591449-61591765	K562	blood:	n/a	n/a
44	CHD2	chr8:61590828-61590843	K562	blood:	n/a	n/a
45	CREB1	chr8:61592338-61592576	A549	lung:	n/a	n/a
46	CREB1	chr8:61590710-61591255	A549	lung:	n/a	chr8:61590907-61590920
47	CREB1	chr8:61590745-61591319	HepG2	liver:	n/a	chr8:61590907-61590920
48	CREB1	chr8:61591822-61592053	A549	lung:	n/a	n/a
49	CREB1	chr8:61590950-61591273	K562	blood:	n/a	n/a
50	CREB1	chr8:61590915-61591257	GM12878	blood:	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	chr8:61591939-61591989	GM12891	blood:	n/a
2	chr8:61591939-61591989	GM12891	blood:	n/a
3	chr8:61591398-61591448	PANC-1	pancreas:	n/a
4	chr8:61591461-61591511	BJ	skin:	n/a
5	chr8:61591461-61591511	HCF	heart:	n/a
6	chr8:61591398-61591448	HPAEpiC	pulmonary alveolar:	n/a
7	chr8:61591461-61591511	SK-N-MC	brain:	n/a
8	chr8:61591199-61591249	Jurkat	blood:	n/a
9	chr8:61591461-61591511	SK-N-SH_RA	brain:	n/a
10	chr8:61590787-61590837	GM12891	blood:	n/a
11	chr8:61591204-61591254	AG04449	skin:	fetal
12	chr8:61592088-61592138	BE2_C	brain:	n/a
13	chr8:61591204-61591254	ovcar-3	ovarian:	n/a
14	chr8:61590787-61590837	SKMC	muscle:	n/a
15	chr8:61592088-61592138	AG09309	skin:	n/a
16	chr8:61591398-61591448	SK-N-MC	brain:	n/a
17	chr8:61591204-61591254	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:61590787-61590837	HMEC	breast:	n/a
19	chr8:61593040-61593090	HRCEpiC	kidney:	n/a
20	chr8:61592727-61592777	HepG2	liver:	n/a
21	chr8:61593040-61593090	GM12891	blood:	n/a
22	chr8:61591204-61591254	HIPEpiC	eye:	n/a
23	chr8:61591204-61591254	SK-N-MC	brain:	n/a
24	chr8:61591939-61591989	ECC-1	luminal epithelium:	n/a
25	chr8:61592088-61592138	HCPEpiC	choroid plexus:	n/a
26	chr8:61593040-61593090	ECC-1	luminal epithelium:	n/a
27	chr8:61591204-61591254	HAEpiC	amniotic membrane:	n/a
28	chr8:61591199-61591249	H1-hESC	embryonic stem cell:	embryo
29	chr8:61591461-61591511	SAEC	small airway:	n/a
30	chr8:61591398-61591448	HCF	heart:	n/a
31	chr8:61591436-61591486	LNCaP	prostate:	n/a
32	chr8:61591939-61591989	BE2_C	brain:	n/a
33	chr8:61591199-61591249	HEK293	kidney:	embryo
34	chr8:61591398-61591448	ProgFib	skin:	n/a
35	chr8:61591199-61591249	HCM	heart:	n/a
36	chr8:61591436-61591486	GM12891	blood:	n/a
37	chr8:61592727-61592777	HCF	heart:	n/a
38	chr8:61593179-61593229	U87	brain:	n/a
39	chr8:61591939-61591989	HEK293	kidney:	embryo
40	chr8:61590787-61590837	CMK	blood:	n/a
41	chr8:61593040-61593090	SK-N-SH_RA	brain:	n/a
42	chr8:61592088-61592138	NH-A	brain:	n/a
43	chr8:61592088-61592138	AoSMC	blood vessel:	n/a
44	chr8:61591461-61591511	NT2-D1	testis:	n/a
45	chr8:61593179-61593229	GM06990	blood:	n/a
46	chr8:61593179-61593229	NH-A	brain:	n/a
47	chr8:61591204-61591254	NHBE	bronchial:	n/a
48	chr8:61590787-61590837	NH-A	brain:	n/a
49	chr8:61591461-61591511	ECC-1	luminal epithelium:	n/a
50	chr8:61591199-61591249	AG04449	skin:	fetal

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61590644..61591624-chrX:119737473..119738364,2	Hela-S3	cervix:
2	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
3	chr8:59570989..59573111-chr8:61592746..61594650,2	MCF-7	breast:
4	chr11:72463368..72463911-chr8:61592033..61592792,2	Hela-S3	cervix:
5	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
6	chr2:3605843..3606568-chr8:61590788..61591308,2	Hela-S3	cervix:
7	chr8:61592791..61594650-chr8:61754871..61757414,2	K562	blood:
8	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
9	chr8:61590410..61592571-chr8:61654156..61656255,3	MCF-7	breast:
10	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
11	chr8:61571219..61575228-chr8:61591571..61593615,3	MCF-7	breast:
12	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
13	chr8:61564434..61565085-chr8:61591483..61592116,2	Hela-S3	cervix:
14	chr8:61592636..61594603-chr8:61965419..61967444,2	MCF-7	breast:
15	chr16:20911706..20912684-chr8:61590659..61591241,2	Hela-S3	cervix:
16	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
17	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
18	chr15:51872226..51872785-chr8:61590656..61591256,2	NB4	blood:

No data

Variant related genes	Relation type
CHD7	TF binding region
CHD7	CpG island
ENSG00000234171	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000254869	chromatin interactions
ENSG00000035681	chromatin interactions
ENSG00000171865	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000188215	chromatin interactions
ENSG00000104388	chromatin interactions
ENSG00000232119	chromatin interactions
ENSG00000186635	chromatin interactions
ENSG00000251396	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000255289	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558985112	chr8:61590835-61590836	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs577212451	chr8:61590897-61590898	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs541424502	chr8:61590906-61590907	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs112957668	chr8:61590939-61590940	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs141864055	chr8:61591075-61591076	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs60479293	chr8:61591089-61591090	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs560095424	chr8:61591151-61591152	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs530392029	chr8:61591174-61591175	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs71513463	chr8:61591244-61591245	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs542460684	chr8:61591303-61591304	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs71513464	chr8:61591350-61591351	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs71245513	chr8:61591370-61591371	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs113958504	chr8:61591436-61591437	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs531113504	chr8:61591489-61591490	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs549657669	chr8:61591523-61591524	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs571310958	chr8:61591536-61591537	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs531989939	chr8:61591635-61591636	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs546943513	chr8:61591671-61591672	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs576943384	chr8:61591763-61591764	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs565659459	chr8:61591886-61591887	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs536107791	chr8:61591908-61591909	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs2875976	chr8:61591976-61591977	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374179440	chr8:61591997-61591998	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs367961713	chr8:61592008-61592009	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs185249106	chr8:61592233-61592234	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs190063081	chr8:61592340-61592341	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs562403018	chr8:61592368-61592369	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530077201	chr8:61592376-61592377	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs11784818	chr8:61592420-61592421	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs3735828	chr8:61592425-61592426	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs558823460	chr8:61592431-61592432	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs375771734	chr8:61592444-61592445	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs577367833	chr8:61592451-61592452	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs541436901	chr8:61592491-61592492	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs553371181	chr8:61592495-61592496	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs116664805	chr8:61592515-61592516	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs542570441	chr8:61592536-61592537	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs564007999	chr8:61592539-61592540	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs370394198	chr8:61592559-61592560	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs575789612	chr8:61592645-61592646	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs546338813	chr8:61592658-61592659	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs564832443	chr8:61592659-61592660	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532049231	chr8:61592712-61592713	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs182389553	chr8:61592730-61592731	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558956728	chr8:61592741-61592742	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs368231856	chr8:61592753-61592754	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs202225932	chr8:61592769-61592770	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs548232420	chr8:61592829-61592830	Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs372031096	chr8:61592833-61592834	Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs569921813	chr8:61592846-61592847	Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:61590000-61593800	Active TSS	HMEC	breast
4	chr8:61590200-61591000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:61590200-61593200	Active TSS	Liver	Liver
6	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:61590400-61591000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:61590400-61591000	Active TSS	Stomach Mucosa	stomach
13	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Dnd41	blood
14	chr8:61590400-61591000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr8:61590400-61591400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:61590400-61591600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
17	chr8:61590400-61592200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:61590400-61592400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:61590400-61592600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr8:61590400-61593200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:61590400-61593200	Active TSS	A549	lung
22	chr8:61590400-61593200	Active TSS	K562	blood
23	chr8:61590400-61593400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:61590400-61593400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:61590400-61593400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:61590400-61593400	Active TSS	Aorta	Aorta
27	chr8:61590400-61593400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:61590400-61593400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:61590400-61593400	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr8:61590400-61593400	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:61590400-61593600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:61590400-61593600	Active TSS	Colon Smooth Muscle	Colon
33	chr8:61590400-61593600	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:61590400-61593600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:61590400-61593600	Active TSS	Hela-S3	cervix
36	chr8:61590400-61593800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:61590400-61593800	Active TSS	Brain Hippocampus Middle	brain
38	chr8:61590400-61593800	Active TSS	Colonic Mucosa	Colon
39	chr8:61590400-61593800	Active TSS	Fetal Intestine Large	intestine
40	chr8:61590400-61593800	Active TSS	Fetal Intestine Small	intestine
41	chr8:61590400-61593800	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:61590400-61593800	Active TSS	GM12878-XiMat	blood
43	chr8:61590400-61593800	Active TSS	HSMMtube	muscle
44	chr8:61590400-61594000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:61590400-61594000	Active TSS	Duodenum Mucosa	Duodenum
46	chr8:61590400-61594000	Active TSS	Psoas Muscle	Psoas
47	chr8:61590400-61594000	Active TSS	Right Atrium	heart
48	chr8:61590400-61594000	Active TSS	Right Ventricle	heart
49	chr8:61590400-61594000	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:61590400-61594000	Active TSS	HSMM	muscle

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