Variant report

Variant	esv3328681
Chromosome Location	chr8:90913579-90916277
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	chr8:90914457-90914773	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:90914016-90914321	K562	blood:	n/a	n/a
3	ARID3A	chr8:90914588-90914864	K562	blood:	n/a	n/a
4	ATF2	chr8:90913899-90914900	GM12878	blood:	n/a	n/a
5	ATF2	chr8:90913845-90914460	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr8:90914071-90914419	GM12878	blood:	n/a	n/a
7	ATF3	chr8:90914591-90914883	K562	blood:	n/a	chr8:90914753-90914762 chr8:90914722-90914731
8	ATF3	chr8:90913879-90914156	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr8:90913906-90914228	K562	blood:	n/a	n/a
10	ATF3	chr8:90913816-90914303	A549	lung:	n/a	n/a
11	BACH1	chr8:90914341-90914458	K562	blood:	n/a	n/a
12	BACH1	chr8:90915306-90915530	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr8:90914988-90915005	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr8:90913962-90914632	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr8:90913833-90914033	K562	blood:	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	chr8:90914091-90915501	HepG2	liver:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
21	BHLHE40	chr8:90914549-90914724	A549	lung:	n/a	n/a
22	BHLHE40	chr8:90913874-90915718	GM12878	blood:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
23	BHLHE40	chr8:90914023-90915556	K562	blood:	n/a	chr8:90914721-90914737 chr8:90914735-90914751 chr8:90914729-90914745
24	BRCA1	chr8:90914803-90914895	HepG2	liver:	n/a	n/a
25	BRCA1	chr8:90915213-90915738	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr8:90915367-90915422	GM12878	blood:	n/a	n/a
27	BRCA1	chr8:90913875-90914561	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr8:90914217-90914679	K562	blood:	n/a	n/a
29	CCNT2	chr8:90913844-90915383	K562	blood:	n/a	n/a
30	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
31	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
32	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
33	CEBPB	chr8:90913915-90914093	HepG2	liver:	n/a	chr8:90914018-90914029
34	CEBPB	chr8:90913854-90914174	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029
35	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
36	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
37	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
38	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
39	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
40	CEBPB	chr8:90913948-90914116	K562	blood:	n/a	chr8:90914018-90914029
41	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
42	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
43	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
44	CEBPB	chr8:90913792-90914324	ECC-1	luminal epithelium:	n/a	chr8:90914018-90914029 chr8:90913819-90913830
45	CHD1	chr8:90913701-90914104	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr8:90914978-90916739	GM12878	blood:	n/a	n/a
47	CHD1	chr8:90914007-90914692	GM12878	blood:	n/a	chr8:90914652-90914662
48	CHD1	chr8:90914346-90915903	H1-hESC	embryonic stem cell:	n/a	chr8:90914652-90914662
49	CHD2	chr8:90913951-90915161	H1-hESC	embryonic stem cell:	n/a	chr8:90914652-90914662
50	CHD2	chr8:90914193-90915511	K562	blood:	n/a	chr8:90914652-90914662

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:90914592-90914642	HRPEpiC	eye:	n/a
2	chr8:90914592-90914642	HRPEpiC	eye:	n/a
3	chr8:90915076-90915126	NH-A	brain:	n/a
4	chr8:90914101-90914151	PANC-1	pancreas:	n/a
5	chr8:90915076-90915126	HCF	heart:	n/a
6	chr8:90914282-90914332	HRCEpiC	kidney:	n/a
7	chr8:90914282-90914332	U87	brain:	n/a
8	chr8:90914397-90914447	PFSK-1	brain:	n/a
9	chr8:90914101-90914151	HRE	kidney:	n/a
10	chr8:90914590-90914640	IMR90	lung:	fetal
11	chr8:90914397-90914447	GM19239	blood:	n/a
12	chr8:90914101-90914151	HEEpiC	esophagus:	n/a
13	chr8:90914592-90914642	NT2-D1	testis:	n/a
14	chr8:90914592-90914642	Caco-2	colon:	n/a
15	chr8:90914590-90914640	AG10803	skin:	n/a
16	chr8:90914634-90914684	HAEpiC	amniotic membrane:	n/a
17	chr8:90915339-90915389	MCF-7	breast:	n/a
18	chr8:90914101-90914151	PFSK-1	brain:	n/a
19	chr8:90913896-90913946	NHDF-neo	bronchial:	n/a
20	chr8:90915339-90915389	AoSMC	blood vessel:	n/a
21	chr8:90914101-90914151	HUVEC	blood vessel:	n/a
22	chr8:90914634-90914684	SAEC	small airway:	n/a
23	chr8:90914592-90914642	NH-A	brain:	n/a
24	chr8:90914282-90914332	Hepatocyte	liver:	n/a
25	chr8:90915076-90915126	U87	brain:	n/a
26	chr8:90914397-90914447	HRPEpiC	eye:	n/a
27	chr8:90914634-90914684	ECC-1	luminal epithelium:	n/a
28	chr8:90914397-90914447	HEK293	kidney:	embryo
29	chr8:90915339-90915389	SK-N-MC	brain:	n/a
30	chr8:90914590-90914640	SK-N-MC	brain:	n/a
31	chr8:90914592-90914642	MCF10A-Er-Src	breast:	n/a
32	chr8:90913896-90913946	PANC-1	pancreas:	n/a
33	chr8:90915076-90915126	HEEpiC	esophagus:	n/a
34	chr8:90915076-90915126	ProgFib	skin:	n/a
35	chr8:90914397-90914447	Hepatocyte	liver:	n/a
36	chr8:90914397-90914447	NT2-D1	testis:	n/a
37	chr8:90914590-90914640	HNPCEpiC	eye:	n/a
38	chr8:90913896-90913946	NB4	blood:	n/a
39	chr8:90914590-90914640	MCF10A-Er-Src	breast:	n/a
40	chr8:90915339-90915389	H1-hESC	embryonic stem cell:	embryo
41	chr8:90914282-90914332	PFSK-1	brain:	n/a
42	chr8:90914397-90914447	HCM	heart:	n/a
43	chr8:90914101-90914151	HIPEpiC	eye:	n/a
44	chr8:90914592-90914642	Hela-S3	cervix:	n/a
45	chr8:90914634-90914684	NHDF-neo	bronchial:	n/a
46	chr8:90913896-90913946	AG10803	skin:	n/a
47	chr8:90914590-90914640	K562	blood:	n/a
48	chr8:90914634-90914684	HUVEC	blood vessel:	n/a
49	chr8:90915076-90915126	NB4	blood:	n/a
50	chr8:90915076-90915126	ovcar-3	ovarian:	n/a

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

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

Extended variants
information (count: 97 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	rs555473986	chr8:90914101-90914102	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs573696709	chr8:90914180-90914181	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
19	rs367619496	chr8:90914181-90914182	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
20	rs2250670	chr8:90914272-90914273	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs140854646	chr8:90914285-90914286	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs544862049	chr8:90914298-90914299	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs560019541	chr8:90914299-90914300	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs528437775	chr8:90914304-90914305	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs538853345	chr8:90914310-90914311	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs553580032	chr8:90914322-90914323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs114975927	chr8:90914391-90914392	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs568394584	chr8:90914399-90914400	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs117772709	chr8:90914410-90914411	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs117920932	chr8:90914418-90914419	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs10088155	chr8:90914432-90914433	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540050797	chr8:90914471-90914472	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs186780583	chr8:90914488-90914489	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs567194033	chr8:90914519-90914520	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs533736272	chr8:90914546-90914547	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs150164176	chr8:90914583-90914584	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs573600131	chr8:90914624-90914625	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs375061468	chr8:90914727-90914728	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs555994484	chr8:90914746-90914747	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs177538	chr8:90914754-90914755	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs138666179	chr8:90914789-90914790	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs544822938	chr8:90914811-90914812	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs559978491	chr8:90914816-90914817	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs527564356	chr8:90914853-90914854	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs2697670	chr8:90914865-90914866	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
46	rs177539	chr8:90914924-90914925	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs147041364	chr8:90914948-90914949	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs114228988	chr8:90915091-90915092	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs551015731	chr8:90915096-90915097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs149993601	chr8:90915111-90915112	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 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:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:90895600-90913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:90897600-90914000	Weak transcription	Gastric	stomach
4	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
5	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
6	chr8:90899800-90913600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:90900800-90913600	Weak transcription	Fetal Lung	lung
9	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:90902400-90913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:90902400-90913800	Weak transcription	NHLF	lung
13	chr8:90902600-90913600	Weak transcription	HepG2	liver
14	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
15	chr8:90905000-90913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
17	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
18	chr8:90905000-90914000	Weak transcription	Lung	lung
19	chr8:90905600-90913600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:90905600-90913600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:90905800-90913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:90905800-90913600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:90905800-90913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:90905800-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:90906000-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:90906000-90913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:90906200-90913600	Weak transcription	Primary T cells from cord blood	blood
28	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
31	chr8:90906400-90913600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:90906400-90913800	Weak transcription	Fetal Stomach	stomach
33	chr8:90908400-90913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:90909200-90913800	Weak transcription	NH-A	brain
35	chr8:90909400-90913600	Weak transcription	HMEC	breast
36	chr8:90910000-90913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:90910000-90913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:90910000-90913800	Weak transcription	Osteobl	bone
39	chr8:90910200-90913600	Weak transcription	HUVEC	blood vessel
40	chr8:90910200-90913800	Weak transcription	NHDF-Ad	bronchial
41	chr8:90910600-90913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:90911600-90913600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:90911600-90913800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:90911800-90913600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:90912400-90913800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:90912600-90913600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:90912600-90913600	Weak transcription	Fetal Heart	heart
48	chr8:90912600-90913600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:90912800-90916200	Active TSS	A549	lung
50	chr8:90913200-90913600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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