Variant report

Variant	esv3368249
Chromosome Location	chr4:79696578-79699076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:781)
CpG islands
(count:614)
Chromatin interactive
region (count:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:79696224-79697077	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:79698079-79698400	HepG2	liver:	n/a	n/a
3	ATF2	chr4:79696448-79696978	GM12878	blood:	n/a	n/a
4	ATF2	chr4:79696278-79697078	GM12878	blood:	n/a	n/a
5	ATF3	chr4:79696845-79697321	GM12878	blood:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
6	ATF3	chr4:79696914-79697196	H1-hESC	embryonic stem cell:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
7	ATF3	chr4:79696936-79697176	H1-hESC	embryonic stem cell:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
8	ATF3	chr4:79696931-79697257	K562	blood:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
9	ATF3	chr4:79696803-79697243	HepG2	liver:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
10	ATF3	chr4:79696969-79697245	GM12878	blood:	n/a	chr4:79697136-79697145
11	ATF3	chr4:79696926-79697242	HepG2	liver:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
12	BACH1	chr4:79696692-79697359	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr4:79696468-79697447	GM12878	blood:	n/a	chr4:79697323-79697336 chr4:79697134-79697147 chr4:79697127-79697136 chr4:79697147-79697160
14	BCLAF1	chr4:79696557-79697238	GM12878	blood:	n/a	chr4:79697134-79697147 chr4:79697127-79697136 chr4:79697147-79697160
15	BCLAF1	chr4:79697110-79697706	K562	blood:	n/a	chr4:79697323-79697336 chr4:79697134-79697147 chr4:79697628-79697641 chr4:79697127-79697136 chr4:79697627-79697640 chr4:79697147-79697160
16	BCLAF1	chr4:79697391-79697750	GM12878	blood:	n/a	chr4:79697628-79697641 chr4:79697627-79697640
17	BHLHE40	chr4:79696606-79697696	HepG2	liver:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
18	BHLHE40	chr4:79696445-79697724	K562	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
19	BHLHE40	chr4:79698092-79698300	HepG2	liver:	n/a	n/a
20	BHLHE40	chr4:79696276-79697722	GM12878	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
21	BHLHE40	chr4:79698199-79698394	K562	blood:	n/a	n/a
22	BRCA1	chr4:79696288-79697045	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr4:79697140-79697152	HepG2	liver:	n/a	n/a
24	BRCA1	chr4:79698006-79698362	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr4:79696528-79697234	K562	blood:	n/a	n/a
26	CCNT2	chr4:79696809-79698067	K562	blood:	n/a	chr4:79697915-79697924 chr4:79697068-79697077
27	CEBPB	chr4:79696128-79697224	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr4:79698136-79698187	HepG2	liver:	n/a	n/a
29	CEBPB	chr4:79696115-79696624	K562	blood:	n/a	n/a
30	CEBPB	chr4:79698098-79698385	Hela-S3	cervix:	n/a	n/a
31	CEBPD	chr4:79696855-79697699	HepG2	liver:	n/a	n/a
32	CEBPD	chr4:79696880-79697788	K562	blood:	n/a	n/a
33	CEBPD	chr4:79697208-79697436	HepG2	liver:	n/a	n/a
34	CHD1	chr4:79696188-79697060	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr4:79697952-79697981	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr4:79698250-79698789	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr4:79698071-79698990	GM12878	blood:	n/a	n/a
38	CHD1	chr4:79695833-79697696	GM12878	blood:	n/a	n/a
39	CHD2	chr4:79698197-79698239	HepG2	liver:	n/a	n/a
40	CHD2	chr4:79698186-79698365	K562	blood:	n/a	n/a
41	CHD2	chr4:79696686-79697418	HepG2	liver:	n/a	n/a
42	CHD2	chr4:79696623-79697521	GM12878	blood:	n/a	n/a
43	CHD2	chr4:79696255-79697689	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr4:79696642-79697191	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr4:79696510-79697280	K562	blood:	n/a	n/a
46	CHD2	chr4:79698071-79698508	GM12878	blood:	n/a	n/a
47	CHD2	chr4:79698005-79698458	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr4:79696610-79697509	A549	lung:	n/a	n/a
49	CREB1	chr4:79696550-79697705	GM12878	blood:	n/a	n/a
50	CREB1	chr4:79696466-79697748	HepG2	liver:	n/a	n/a

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79696647-79696697	BJ	skin:	n/a
2	chr4:79698201-79698251	PrEC	prostate:	n/a
3	chr4:79698242-79698292	AoSMC	blood vessel:	n/a
4	chr4:79697739-79697789	T-47D	breast:	n/a
5	chr4:79696647-79696697	BJ	skin:	n/a
6	chr4:79698201-79698251	PrEC	prostate:	n/a
7	chr4:79698242-79698292	AoSMC	blood vessel:	n/a
8	chr4:79697739-79697789	T-47D	breast:	n/a
9	chr4:79697329-79697379	SK-N-SH	brain:	n/a
10	chr4:79697583-79697633	NB4	blood:	n/a
11	chr4:79697583-79697633	HRE	kidney:	n/a
12	chr4:79696708-79696758	MCF-7	breast:	n/a
13	chr4:79698201-79698251	NB4	blood:	n/a
14	chr4:79696555-79696605	U87	brain:	n/a
15	chr4:79698242-79698292	HepG2	liver:	n/a
16	chr4:79696555-79696605	ECC-1	luminal epithelium:	n/a
17	chr4:79696708-79696758	CMK	blood:	n/a
18	chr4:79697583-79697633	HMEC	breast:	n/a
19	chr4:79697329-79697379	T-47D	breast:	n/a
20	chr4:79697329-79697379	BJ	skin:	n/a
21	chr4:79698168-79698218	Hepatocyte	liver:	n/a
22	chr4:79697583-79697633	SK-N-SH	brain:	n/a
23	chr4:79698168-79698218	U87	brain:	n/a
24	chr4:79698242-79698292	NT2-D1	testis:	n/a
25	chr4:79698242-79698292	HL-60	blood:	n/a
26	chr4:79697739-79697789	NT2-D1	testis:	n/a
27	chr4:79697583-79697633	MCF-7	breast:	n/a
28	chr4:79696647-79696697	HMEC	breast:	n/a
29	chr4:79697742-79697792	HNPCEpiC	eye:	n/a
30	chr4:79698242-79698292	AG04449	skin:	fetal
31	chr4:79696647-79696697	BE2_C	brain:	n/a
32	chr4:79698201-79698251	NHDF-neo	bronchial:	n/a
33	chr4:79697742-79697792	NHDF-neo	bronchial:	n/a
34	chr4:79696555-79696605	Caco-2	colon:	n/a
35	chr4:79696708-79696758	HEK293	kidney:	embryo
36	chr4:79698168-79698218	CMK	blood:	n/a
37	chr4:79698201-79698251	Jurkat	blood:	n/a
38	chr4:79696647-79696697	PFSK-1	brain:	n/a
39	chr4:79696708-79696758	HRCEpiC	kidney:	n/a
40	chr4:79697742-79697792	CMK	blood:	n/a
41	chr4:79696647-79696697	IMR90	lung:	fetal
42	chr4:79697739-79697789	BJ	skin:	n/a
43	chr4:79697742-79697792	HRCEpiC	kidney:	n/a
44	chr4:79697739-79697789	MCF-7	breast:	n/a
45	chr4:79697583-79697633	HRPEpiC	eye:	n/a
46	chr4:79696647-79696697	PrEC	prostate:	n/a
47	chr4:79696708-79696758	Hela-S3	cervix:	n/a
48	chr4:79696708-79696758	AG09319	gingival:	n/a
49	chr4:79696647-79696697	ovcar-3	ovarian:	n/a
50	chr4:79697739-79697789	AG04449	skin:	fetal

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79697362..79698154-chrX:118601587..118602475,2	HCT-116	colon:
5	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
6	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
7	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
8	chr4:79696772..79697553-chr6:43737917..43738589,2	Hela-S3	cervix:
9	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
10	chr4:79557978..79560128-chr4:79697718..79699238,2	MCF-7	breast:
11	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
12	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
13	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:
14	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
15	chr4:79697257..79699576-chr4:79770892..79773352,2	MCF-7	breast:
16	chr4:79697991..79698551-chr4:79785291..79786155,2	MCF-7	breast:
17	chr4:79591975..79594296-chr4:79697576..79699186,2	K562	blood:
18	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
19	chr12:6309195..6310003-chr4:79696831..79697536,2	Hela-S3	cervix:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79696609-79697054	NONHSAT097083
2	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1

No data

Variant related genes	Relation type
ENSG00000260278	TF binding region
BMP2K	TF binding region
ENSG00000260278	CpG island
BMP2K	CpG island
ENSG00000112715	chromatin interactions
ENSG00000239793	chromatin interactions
ENSG00000005022	chromatin interactions
ENSG00000138772	chromatin interactions
ENSG00000251019	chromatin interactions
ENSG00000224281	chromatin interactions
ENSG00000010278	chromatin interactions
ENSG00000251442	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000272114	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557511888	chr4:79696580-79696581	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs574179502	chr4:79696598-79696599	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs890303	chr4:79696599-79696600	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141402800	chr4:79696612-79696613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs556899252	chr4:79696634-79696635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs147223245	chr4:79696638-79696639	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs545006299	chr4:79696662-79696663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs564012569	chr4:79696670-79696671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs533273315	chr4:79696719-79696720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs543386753	chr4:79696722-79696723	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs560189188	chr4:79696758-79696759	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs537626736	chr4:79696810-79696811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs563478254	chr4:79696833-79696834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs529126442	chr4:79696836-79696837	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs140569985	chr4:79696879-79696880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs565791578	chr4:79696920-79696921	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs528061891	chr4:79696923-79696924	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs72659093	chr4:79696926-79696927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs571186542	chr4:79696939-79696940	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs537725270	chr4:79696951-79696952	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
21	rs372524087	chr4:79697045-79697046	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs557415180	chr4:79697052-79697053	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
23	rs567838531	chr4:79697069-79697070	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs536500181	chr4:79697076-79697077	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs536454862	chr4:79697083-79697084	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs553247698	chr4:79697142-79697143	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs375459717	chr4:79697151-79697152	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs553002533	chr4:79697175-79697176	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs111888491	chr4:79697190-79697191	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs71216234	chr4:79697210-79697211	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs573023688	chr4:79697270-79697271	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs147417383	chr4:79697281-79697282	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs558513234	chr4:79697412-79697413	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs575578180	chr4:79697450-79697451	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs139143500	chr4:79697540-79697541	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs563478630	chr4:79697547-79697548	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs548621984	chr4:79697641-79697642	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs542863685	chr4:79697673-79697674	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs559454547	chr4:79697688-79697689	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs528176559	chr4:79697696-79697697	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs542064293	chr4:79697811-79697812	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs149914551	chr4:79697870-79697871	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs200561482	chr4:79697884-79697885	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs201253367	chr4:79697893-79697894	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs371075171	chr4:79697895-79697896	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs551213282	chr4:79697900-79697901	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs551731547	chr4:79697925-79697926	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs567866575	chr4:79697951-79697952	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs536421497	chr4:79697963-79697964	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs553168047	chr4:79697973-79697974	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:79696000-79696600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:79696000-79696600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:79696000-79696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:79696000-79696600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:79696000-79696600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr4:79696000-79696600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:79696000-79696600	Flanking Active TSS	NHLF	lung
10	chr4:79696000-79696800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:79696000-79696800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:79696000-79697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:79696000-79698000	Active TSS	Stomach Smooth Muscle	stomach
16	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
19	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:79696200-79696600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:79696200-79696600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:79696200-79696600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:79696200-79696600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:79696200-79696600	Flanking Active TSS	Liver	Liver
26	chr4:79696200-79696600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr4:79696200-79696600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr4:79696200-79696600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr4:79696200-79696600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:79696200-79696600	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:79696200-79696600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:79696200-79696600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr4:79696200-79696600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr4:79696200-79696600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr4:79696200-79696600	Flanking Active TSS	HSMMtube	muscle
36	chr4:79696200-79696600	Flanking Active TSS	NH-A	brain
37	chr4:79696200-79696600	Flanking Active TSS	NHEK	skin
38	chr4:79696200-79696600	Flanking Active TSS	Osteobl	bone
39	chr4:79696200-79696800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:79696200-79696800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr4:79696200-79696800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:79696200-79696800	Active TSS	Brain Germinal Matrix	brain
43	chr4:79696200-79696800	Flanking Active TSS	Fetal Thymus	thymus
44	chr4:79696200-79696800	Active TSS	Right Atrium	heart
45	chr4:79696200-79696800	Flanking Active TSS	Dnd41	blood
46	chr4:79696200-79696800	Flanking Active TSS	HMEC	breast
47	chr4:79696200-79697000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr4:79696200-79697000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr4:79696200-79697000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr4:79696200-79697000	ZNF genes & repeats	Fetal Brain Male	brain

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