Variant report

Variant	esv3371037
Chromosome Location	chr8:90912579-90917077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:90914588-90914864	K562	blood:	n/a	n/a
2	ARID3A	chr8:90914457-90914773	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:90914016-90914321	K562	blood:	n/a	n/a
4	ATF2	chr8:90914071-90914419	GM12878	blood:	n/a	n/a
5	ATF2	chr8:90913899-90914900	GM12878	blood:	n/a	n/a
6	ATF2	chr8:90913845-90914460	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr8:90913906-90914228	K562	blood:	n/a	n/a
8	ATF3	chr8:90913816-90914303	A549	lung:	n/a	n/a
9	ATF3	chr8:90913879-90914156	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr8:90914591-90914883	K562	blood:	n/a	chr8:90914753-90914762 chr8:90914722-90914731
11	BACH1	chr8:90913833-90914033	K562	blood:	n/a	n/a
12	BACH1	chr8:90914988-90915005	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr8:90914341-90914458	K562	blood:	n/a	n/a
14	BACH1	chr8:90913962-90914632	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr8:90915306-90915530	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr8:90913483-90914732	A549	lung:	n/a	chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914538-90914547
17	BCL3	chr8:90914395-90914975	GM12878	blood:	n/a	chr8:90914896-90914909 chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914762-90914771 chr8:90914538-90914547
18	BCL3	chr8:90913808-90914701	A549	lung:	n/a	chr8:90914619-90914632 chr8:90914538-90914547
19	BCLAF1	chr8:90913912-90915243	GM12878	blood:	n/a	chr8:90914896-90914909 chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914762-90914771 chr8:90914538-90914547
20	BHLHE40	chr8:90914549-90914724	A549	lung:	n/a	n/a
21	BHLHE40	chr8:90916333-90916674	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:90913874-90915718	GM12878	blood:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
23	BHLHE40	chr8:90914091-90915501	HepG2	liver:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
24	BHLHE40	chr8:90914023-90915556	K562	blood:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
25	BHLHE40	chr8:90916585-90916631	K562	blood:	n/a	n/a
26	BRCA1	chr8:90915213-90915738	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr8:90914803-90914895	HepG2	liver:	n/a	n/a
28	BRCA1	chr8:90915367-90915422	GM12878	blood:	n/a	n/a
29	BRCA1	chr8:90913875-90914561	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr8:90914217-90914679	K562	blood:	n/a	n/a
31	CCNT2	chr8:90913844-90915383	K562	blood:	n/a	n/a
32	CEBPB	chr8:90913854-90914174	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029
33	CEBPB	chr8:90913549-90914547	H1-hESC	embryonic stem cell:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
34	CEBPB	chr8:90913240-90914948	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
35	CEBPB	chr8:90913353-90914461	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
36	CEBPB	chr8:90913362-90914219	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
37	CEBPB	chr8:90913594-90914230	HepG2	liver:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
38	CEBPB	chr8:90913581-90914976	Hela-S3	cervix:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
39	CEBPB	chr8:90913531-90914204	IMR90	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
40	CEBPB	chr8:90913517-90914251	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
41	CEBPB	chr8:90913548-90914246	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
42	CEBPB	chr8:90913532-90914309	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
43	CEBPB	chr8:90913792-90914324	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029 chr8:90913819-90913830
44	CEBPB	chr8:90913422-90914387	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
45	CEBPB	chr8:90913948-90914116	K562	blood:	n/a	chr8:90914018-90914029
46	CEBPB	chr8:90916959-90917024	K562	blood:	n/a	n/a
47	CEBPB	chr8:90913915-90914093	HepG2	liver:	n/a	chr8:90914018-90914029
48	CHD1	chr8:90913701-90914104	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr8:90914007-90914692	GM12878	blood:	n/a	chr8:90914652-90914662
50	CHD1	chr8:90914346-90915903	H1-hESC	embryonic stem cell:	n/a	chr8:90914652-90914662

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:90916395-90916445	GM19239	blood:	n/a
2	chr8:90916395-90916445	GM19239	blood:	n/a
3	chr8:90913525-90913575	Hepatocyte	liver:	n/a
4	chr8:90913896-90913946	K562	blood:	n/a
5	chr8:90915339-90915389	NT2-D1	testis:	n/a
6	chr8:90913265-90913315	AG10803	skin:	n/a
7	chr8:90914590-90914640	HCM	heart:	n/a
8	chr8:90914592-90914642	SK-N-SH_RA	brain:	n/a
9	chr8:90914397-90914447	ovcar-3	ovarian:	n/a
10	chr8:90914397-90914447	SK-N-SH	brain:	n/a
11	chr8:90913896-90913946	PFSK-1	brain:	n/a
12	chr8:90915076-90915126	RPTEC	kidney:	n/a
13	chr8:90914634-90914684	ProgFib	skin:	n/a
14	chr8:90915076-90915126	NB4	blood:	n/a
15	chr8:90913525-90913575	HMEC	breast:	n/a
16	chr8:90913896-90913946	Caco-2	colon:	n/a
17	chr8:90913525-90913575	HCPEpiC	choroid plexus:	n/a
18	chr8:90913525-90913575	PANC-1	pancreas:	n/a
19	chr8:90915339-90915389	HIPEpiC	eye:	n/a
20	chr8:90914590-90914640	HL-60	blood:	n/a
21	chr8:90916395-90916445	MCF10A-Er-Src	breast:	n/a
22	chr8:90913896-90913946	H1-hESC	embryonic stem cell:	embryo
23	chr8:90914397-90914447	Caco-2	colon:	n/a
24	chr8:90914282-90914332	BJ	skin:	n/a
25	chr8:90913896-90913946	MCF-7	breast:	n/a
26	chr8:90914592-90914642	HCT-116	colon:	n/a
27	chr8:90915076-90915126	HEK293	kidney:	embryo
28	chr8:90913525-90913575	MCF10A-Er-Src	breast:	n/a
29	chr8:90913525-90913575	AG04449	skin:	fetal
30	chr8:90914634-90914684	HRCEpiC	kidney:	n/a
31	chr8:90915339-90915389	NHDF-neo	bronchial:	n/a
32	chr8:90916395-90916445	HIPEpiC	eye:	n/a
33	chr8:90914634-90914684	SK-N-MC	brain:	n/a
34	chr8:90915076-90915126	PFSK-1	brain:	n/a
35	chr8:90915339-90915389	GM12878	blood:	n/a
36	chr8:90915339-90915389	HEEpiC	esophagus:	n/a
37	chr8:90914101-90914151	PFSK-1	brain:	n/a
38	chr8:90914397-90914447	NT2-D1	testis:	n/a
39	chr8:90913525-90913575	GM12892	blood:	n/a
40	chr8:90914397-90914447	HepG2	liver:	n/a
41	chr8:90913265-90913315	HEK293	kidney:	embryo
42	chr8:90915076-90915126	Caco-2	colon:	n/a
43	chr8:90915339-90915389	HCM	heart:	n/a
44	chr8:90914101-90914151	ECC-1	luminal epithelium:	n/a
45	chr8:90914282-90914332	SK-N-MC	brain:	n/a
46	chr8:90914282-90914332	T-47D	breast:	n/a
47	chr8:90914282-90914332	SKMC	muscle:	n/a
48	chr8:90914634-90914684	HRPEpiC	eye:	n/a
49	chr8:90914101-90914151	HEEpiC	esophagus:	n/a
50	chr8:90914282-90914332	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
2	chr13:45915420..45916021-chr8:90914250..90914915,2	NB4	blood:
3	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
4	chr8:90877621..90880581-chr8:90916033..90918083,2	K562	blood:
5	chr8:90914584..90915234-chr8:90995916..90996860,2	MCF-7	breast:
6	chr8:90905258..90907260-chr8:90910485..90913048,2	MCF-7	breast:
7	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
8	chr8:90854578..90857222-chr8:90915273..90917997,2	MCF-7	breast:
9	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
10	chr8:90914226..90916241-chr8:91996581..91998635,2	K562	blood:
11	chr8:90915281..90919071-chr8:91010882..91014336,4	MCF-7	breast:
12	chr8:90916538..90918180-chr8:90993774..90996028,2	MCF-7	breast:
13	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
14	chr8:90898491..90899307-chr8:90912154..90912766,2	MCF-7	breast:
15	chr1:147806427..147807197-chr8:90914369..90915257,2	Hela-S3	cervix:
16	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
17	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
18	chr6:74225553..74226354-chr8:90914190..90914714,2	Hela-S3	cervix:
19	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
20	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
21	chr8:90903994..90907107-chr8:90915784..90918218,3	MCF-7	breast:
22	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
23	chr8:90915875..90918641-chr8:90936584..90938506,2	MCF-7	breast:
24	chr8:90914455..90916377-chr8:91657322..91659594,2	K562	blood:
25	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
26	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
27	chr8:90915800..90917869-chr8:90927701..90930524,2	K562	blood:
28	chr8:90860556..90861077-chr8:90914154..90914756,2	MCF-7	breast:
29	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
30	chr8:90916507..90918102-chr8:90963523..90965242,2	K562	blood:
31	chr22:38713895..38714396-chr8:90914003..90914699,2	Hela-S3	cervix:

Variant related genes	Relation type
OSGIN2	TF binding region
RNU6-925P	TF binding region
OSGIN2	CpG island
RNU6-925P	CpG island
ENSG00000202408	chromatin interactions
ENSG00000170919	chromatin interactions
ENSG00000251136	chromatin interactions
ENSG00000133112	chromatin interactions
ENSG00000246792	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000253250	chromatin interactions
ENSG00000213923	chromatin interactions
ENSG00000104312	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372877835	chr8:90912633-90912634	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs557986864	chr8:90912646-90912647	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73304476	chr8:90912728-90912729	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570538947	chr8:90912765-90912766	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576329358	chr8:90912773-90912774	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs527756904	chr8:90912821-90912822	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs79130539	chr8:90912917-90912918	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs177537	chr8:90912936-90912937	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs149853191	chr8:90912999-90913000	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs574648275	chr8:90913020-90913021	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs140548301	chr8:90913074-90913075	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs568859168	chr8:90913117-90913118	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544744155	chr8:90913139-90913140	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs144865983	chr8:90913144-90913145	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs557341788	chr8:90913158-90913159	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549112113	chr8:90913175-90913176	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs10111854	chr8:90913184-90913185	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373844490	chr8:90913208-90913209	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs139808460	chr8:90913232-90913233	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs143203376	chr8:90913236-90913237	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs550524794	chr8:90913249-90913250	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs551569261	chr8:90913303-90913304	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs375850484	chr8:90913335-90913336	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs569100981	chr8:90913384-90913385	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs572925340	chr8:90913392-90913393	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs182600263	chr8:90913417-90913418	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs566999434	chr8:90913419-90913420	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs540323825	chr8:90913422-90913423	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs184680884	chr8:90913430-90913431	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs116614588	chr8:90913434-90913435	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs550774285	chr8:90913456-90913457	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs562608025	chr8:90913474-90913475	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs116097167	chr8:90913525-90913526	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs74306235	chr8:90913566-90913567	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs570502869	chr8:90913629-90913630	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs146688594	chr8:90913642-90913643	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs73304479	chr8:90913673-90913674	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557765170	chr8:90913692-90913693	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs140300717	chr8:90913701-90913702	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs180769366	chr8:90913730-90913731	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs374040174	chr8:90913794-90913795	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs185563076	chr8:90913818-90913819	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs144075546	chr8:90913842-90913843	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs150984529	chr8:90913884-90913885	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs375458646	chr8:90913936-90913937	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs567529211	chr8:90913961-90913962	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs191292722	chr8:90913995-90913996	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs181752559	chr8:90914017-90914018	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs537471445	chr8:90914064-90914065	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs75800011	chr8:90914093-90914094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90894400-90913400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:90895600-90913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:90897600-90914000	Weak transcription	Gastric	stomach
5	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
6	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
7	chr8:90899800-90913600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:90900600-90913400	Weak transcription	Liver	Liver
9	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:90900800-90913600	Weak transcription	Fetal Lung	lung
11	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:90902400-90913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:90902400-90913800	Weak transcription	NHLF	lung
15	chr8:90902600-90913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:90902600-90913400	Weak transcription	NHEK	skin
17	chr8:90902600-90913600	Weak transcription	HepG2	liver
18	chr8:90904000-90913400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:90904200-90913400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:90904600-90913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
22	chr8:90905000-90913400	Weak transcription	Aorta	Aorta
23	chr8:90905000-90913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
25	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
26	chr8:90905000-90914000	Weak transcription	Lung	lung
27	chr8:90905400-90913400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:90905600-90913600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:90905600-90913600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:90905800-90913400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:90905800-90913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:90905800-90913600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:90905800-90913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:90905800-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:90906000-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:90906000-90913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:90906200-90913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:90906200-90913200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:90906200-90913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:90906200-90913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:90906200-90913200	Weak transcription	Pancreas	Pancrea
42	chr8:90906200-90913400	Weak transcription	Fetal Intestine Small	intestine
43	chr8:90906200-90913400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:90906200-90913600	Weak transcription	Primary T cells from cord blood	blood
45	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
48	chr8:90906400-90913400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:90906400-90913600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:90906400-90913800	Weak transcription	Fetal Stomach	stomach

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