Variant report

Variant	esv3340875
Chromosome Location	chr8:119122996-119125544
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	chr8:119123645-119124442	HepG2	liver:	n/a	n/a
2	ATF1	chr8:119123996-119124307	K562	blood:	n/a	n/a
3	ATF2	chr8:119123932-119124344	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr8:119123926-119124336	GM12878	blood:	n/a	n/a
5	ATF2	chr8:119123912-119124362	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr8:119123932-119124357	GM12878	blood:	n/a	n/a
7	ATF3	chr8:119124000-119124234	K562	blood:	n/a	n/a
8	ATF3	chr8:119123965-119124426	A549	lung:	n/a	n/a
9	BACH1	chr8:119123211-119124213	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr8:119123984-119124262	GM12878	blood:	n/a	n/a
11	BCLAF1	chr8:119123895-119124492	GM12878	blood:	n/a	chr8:119124288-119124301 chr8:119124407-119124420
12	BHLHE40	chr8:119124033-119124448	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:119124051-119124441	K562	blood:	n/a	n/a
14	BRCA1	chr8:119124501-119124715	GM12878	blood:	n/a	n/a
15	BRCA1	chr8:119123152-119124277	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr8:119124075-119124428	HepG2	liver:	n/a	n/a
17	CBX3	chr8:119124006-119124295	K562	blood:	n/a	n/a
18	CCNT2	chr8:119124000-119124496	K562	blood:	n/a	n/a
19	CEBPB	chr8:119123136-119123686	K562	blood:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
20	CEBPB	chr8:119123100-119123811	MCF-7	breast:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
21	CEBPB	chr8:119122965-119123767	H1-hESC	embryonic stem cell:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
22	CEBPB	chr8:119123319-119123692	ECC-1	luminal epithelium:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
23	CEBPB	chr8:119123200-119123680	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
24	CEBPB	chr8:119123952-119124319	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr8:119123968-119124289	IMR90	lung:	n/a	n/a
26	CEBPB	chr8:119123183-119123689	IMR90	lung:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
27	CEBPB	chr8:119123377-119123608	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
28	CEBPB	chr8:119123169-119123761	A549	lung:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
29	CEBPB	chr8:119123155-119124270	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
30	CEBPB	chr8:119122997-119124411	Hela-S3	cervix:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
31	CEBPB	chr8:119123183-119123697	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
32	CEBPB	chr8:119123035-119123671	MCF-7	breast:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
33	CEBPB	chr8:119124055-119124237	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr8:119123175-119123746	A549	lung:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
35	CEBPB	chr8:119123259-119123710	A549	lung:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
36	CEBPB	chr8:119123294-119123737	ECC-1	luminal epithelium:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
37	CEBPB	chr8:119123204-119123612	K562	blood:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
38	CEBPD	chr8:119123936-119124514	HepG2	liver:	n/a	n/a
39	CEBPD	chr8:119124139-119124380	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:119123315-119123668	HepG2	liver:	n/a	n/a
41	CEBPD	chr8:119123940-119124135	HepG2	liver:	n/a	n/a
42	CHD1	chr8:119121604-119123847	H1-hESC	embryonic stem cell:	n/a	chr8:119123550-119123560
43	CHD1	chr8:119115687-119126076	IMR90	lung:	n/a	chr8:119123550-119123560
44	CHD1	chr8:119124189-119124712	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr8:119124121-119124642	GM12878	blood:	n/a	n/a
46	CHD1	chr8:119123275-119123566	GM12878	blood:	n/a	chr8:119123550-119123560
47	CHD2	chr8:119123596-119124391	HepG2	liver:	n/a	n/a
48	CHD2	chr8:119124026-119124289	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr8:119125186-119125683	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr8:119123992-119124313	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:119124108-119124158	AG04449	skin:	fetal
2	chr8:119124108-119124158	AG04449	skin:	fetal
3	chr8:119125345-119125395	CMK	blood:	n/a
4	chr8:119124790-119124840	HRCEpiC	kidney:	n/a
5	chr8:119123707-119123757	BJ	skin:	n/a
6	chr8:119124462-119124512	HUVEC	blood vessel:	n/a
7	chr8:119125345-119125395	SKMC	muscle:	n/a
8	chr8:119124108-119124158	PFSK-1	brain:	n/a
9	chr8:119123269-119123319	SK-N-SH_RA	brain:	n/a
10	chr8:119124311-119124361	HAEpiC	amniotic membrane:	n/a
11	chr8:119124051-119124101	GM12878	blood:	n/a
12	chr8:119123707-119123757	NT2-D1	testis:	n/a
13	chr8:119124462-119124512	HCF	heart:	n/a
14	chr8:119124108-119124158	AoSMC	blood vessel:	n/a
15	chr8:119124051-119124101	BE2_C	brain:	n/a
16	chr8:119124311-119124361	A549	lung:	n/a
17	chr8:119123054-119123104	U87	brain:	n/a
18	chr8:119124462-119124512	K562	blood:	n/a
19	chr8:119124051-119124101	HMEC	breast:	n/a
20	chr8:119124462-119124512	HEK293	kidney:	embryo
21	chr8:119124462-119124512	GM19239	blood:	n/a
22	chr8:119125345-119125395	PFSK-1	brain:	n/a
23	chr8:119123269-119123319	U87	brain:	n/a
24	chr8:119124108-119124158	BJ	skin:	n/a
25	chr8:119124103-119124153	Hela-S3	cervix:	n/a
26	chr8:119124462-119124512	RPTEC	kidney:	n/a
27	chr8:119124790-119124840	T-47D	breast:	n/a
28	chr8:119123707-119123757	HUVEC	blood vessel:	n/a
29	chr8:119124103-119124153	MCF10A-Er-Src	breast:	n/a
30	chr8:119123054-119123104	NHBE	bronchial:	n/a
31	chr8:119125345-119125395	Hepatocyte	liver:	n/a
32	chr8:119124462-119124512	BE2_C	brain:	n/a
33	chr8:119123054-119123104	Caco-2	colon:	n/a
34	chr8:119124051-119124101	NH-A	brain:	n/a
35	chr8:119125345-119125395	HRCEpiC	kidney:	n/a
36	chr8:119124790-119124840	PANC-1	pancreas:	n/a
37	chr8:119124790-119124840	HRPEpiC	eye:	n/a
38	chr8:119124108-119124158	HNPCEpiC	eye:	n/a
39	chr8:119125345-119125395	HCM	heart:	n/a
40	chr8:119124311-119124361	HEEpiC	esophagus:	n/a
41	chr8:119123269-119123319	NT2-D1	testis:	n/a
42	chr8:119124790-119124840	BE2_C	brain:	n/a
43	chr8:119124051-119124101	SK-N-MC	brain:	n/a
44	chr8:119123269-119123319	HEEpiC	esophagus:	n/a
45	chr8:119124790-119124840	BJ	skin:	n/a
46	chr8:119123054-119123104	SK-N-MC	brain:	n/a
47	chr8:119125345-119125395	HCPEpiC	choroid plexus:	n/a
48	chr8:119124311-119124361	HCF	heart:	n/a
49	chr8:119124108-119124158	NT2-D1	testis:	n/a
50	chr8:119123269-119123319	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:12912250..12913144-chr8:119123766..119124613,2	Hela-S3	cervix:
2	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:
3	chr8:119124285..119125855-chr8:119134931..119136550,3	K562	blood:
4	chr2:128051192..128051755-chr8:119124057..119124776,2	HCT-116	colon:
5	chr15:77713135..77713891-chr8:119123894..119124590,2	HCT-116	colon:
6	chr8:119124285..119125818-chr8:119134931..119136512,2	K562	blood:
7	chr11:10830483..10831166-chr8:119123692..119124582,2	Hela-S3	cervix:
8	chr8:119124512..119125012-chr8:145596006..145596638,2	MCF-7	breast:
9	chr17:56708655..56709492-chr8:119124090..119124620,2	HCT-116	colon:
10	chr17:41465753..41466267-chr8:119124188..119124953,2	Hela-S3	cervix:
11	chr8:119108619..119110803-chr8:119124925..119127142,2	K562	blood:
12	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:
13	chr14:36789374..36789875-chr8:119123638..119124514,2	Hela-S3	cervix:
14	chr19:58873423..58874309-chr8:119124024..119124607,2	Hela-S3	cervix:

Variant related genes	Relation type
EXT1	TF binding region
EXT1	CpG island
ENSG00000140382	chromatin interactions
ENSG00000246308	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000151332	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000167815	chromatin interactions
ENSG00000269054	chromatin interactions
ENSG00000163161	chromatin interactions
ENSG00000182197	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539549632	chr8:119123001-119123002	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376231630	chr8:119123034-119123035	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201918002	chr8:119123035-119123036	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150818931	chr8:119123072-119123073	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs367543871	chr8:119123076-119123077	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371817652	chr8:119123086-119123087	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187891947	chr8:119123098-119123099	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373794512	chr8:119123102-119123103	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142365518	chr8:119123105-119123106	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368004125	chr8:119123120-119123121	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371717237	chr8:119123132-119123133	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375138320	chr8:119123135-119123136	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150846666	chr8:119123140-119123141	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111369561	chr8:119123154-119123155	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368382074	chr8:119123162-119123163	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199862937	chr8:119123164-119123165	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78429222	chr8:119123169-119123170	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs17506447	chr8:119123172-119123173	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147654656	chr8:119123187-119123188	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533027765	chr8:119123198-119123199	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200276819	chr8:119123217-119123218	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142281281	chr8:119123222-119123223	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545138851	chr8:119123239-119123240	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560372018	chr8:119123259-119123260	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200815125	chr8:119123269-119123270	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs61757381	chr8:119123275-119123276	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191550540	chr8:119123306-119123307	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375059704	chr8:119123308-119123309	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533303304	chr8:119123398-119123399	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549255803	chr8:119123400-119123401	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528890722	chr8:119123478-119123479	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76805972	chr8:119123551-119123552	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531643299	chr8:119123585-119123586	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144282710	chr8:119123609-119123610	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560601967	chr8:119123614-119123615	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183290868	chr8:119123663-119123664	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs372210548	chr8:119123785-119123786	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs376862755	chr8:119123788-119123789	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs78824154	chr8:119123794-119123795	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs557865915	chr8:119123855-119123856	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs188740055	chr8:119123920-119123921	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs534171475	chr8:119123927-119123928	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs556019364	chr8:119123930-119123931	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs192302720	chr8:119124007-119124008	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs112317221	chr8:119124059-119124060	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs555849430	chr8:119124061-119124062	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs549406822	chr8:119124169-119124170	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs377439480	chr8:119124261-119124262	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs577745809	chr8:119124272-119124273	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs141351299	chr8:119124290-119124291	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Osteobl	bone
3	chr8:119117400-119123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:119118800-119124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119118800-119125000	Active TSS	Aorta	Aorta
6	chr8:119119000-119124600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:119119400-119123000	Flanking Active TSS	Hela-S3	cervix
9	chr8:119119400-119123200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:119119400-119123200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:119119600-119123400	Flanking Active TSS	Dnd41	blood
12	chr8:119119800-119124600	Active TSS	Brain Angular Gyrus	brain
13	chr8:119120000-119125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:119120200-119124400	Active TSS	NH-A	brain
15	chr8:119120200-119124600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:119120200-119124600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:119120200-119124600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:119120200-119124600	Active TSS	Colonic Mucosa	Colon
19	chr8:119120200-119124600	Active TSS	Fetal Intestine Large	intestine
20	chr8:119120200-119124600	Active TSS	Fetal Stomach	stomach
21	chr8:119120200-119124600	Active TSS	HSMM	muscle
22	chr8:119120200-119124800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:119120200-119124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr8:119120200-119124800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:119120200-119124800	Active TSS	Right Atrium	heart
26	chr8:119120200-119124800	Active TSS	Right Ventricle	heart
27	chr8:119120200-119124800	Active TSS	HSMMtube	muscle
28	chr8:119120400-119124600	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:119120400-119124600	Active TSS	Stomach Mucosa	stomach
30	chr8:119120400-119124600	Active TSS	HMEC	breast
31	chr8:119120600-119123600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr8:119120600-119124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:119120600-119124800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr8:119120600-119124800	Active TSS	Small Intestine	intestine
35	chr8:119120600-119124800	Active TSS	A549	lung
36	chr8:119120800-119123200	Transcr. at gene 5' and 3'	NHLF	lung
37	chr8:119120800-119124400	Active TSS	Gastric	stomach
38	chr8:119120800-119124600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:119120800-119124600	Active TSS	Esophagus	oesophagus
40	chr8:119120800-119124800	Active TSS	Colon Smooth Muscle	Colon
41	chr8:119120800-119124800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr8:119121000-119123200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr8:119121000-119123600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:119121000-119123600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:119121000-119123800	Active TSS	Fetal Heart	heart
46	chr8:119121000-119124600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:119121000-119124600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:119121400-119124600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr8:119121600-119123000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr8:119121600-119123400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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