Variant report

Variant	esv3358831
Chromosome Location	chr4:79696153-79699301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:809)
CpG islands
(count:610)
Chromatin interactive
region (count:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr4:79696969-79697245	GM12878	blood:	n/a	chr4:79697136-79697145
7	ATF3	chr4:79696936-79697176	H1-hESC	embryonic stem cell:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
8	ATF3	chr4:79696914-79697196	H1-hESC	embryonic stem cell:	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	chr4:79696926-79697242	HepG2	liver:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
11	ATF3	chr4:79696931-79697257	K562	blood:	n/a	chr4:79697136-79697145 chr4:79696955-79696975
12	BACH1	chr4:79696692-79697359	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCLAF1	chr4:79696557-79697238	GM12878	blood:	n/a	chr4:79697134-79697147 chr4:79697127-79697136 chr4:79697147-79697160
14	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
15	BCLAF1	chr4:79697391-79697750	GM12878	blood:	n/a	chr4:79697628-79697641 chr4:79697627-79697640
16	BCLAF1	chr4:79696468-79697447	GM12878	blood:	n/a	chr4:79697323-79697336 chr4:79697134-79697147 chr4:79697127-79697136 chr4:79697147-79697160
17	BHLHE40	chr4:79696276-79697722	GM12878	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
18	BHLHE40	chr4:79698199-79698394	K562	blood:	n/a	n/a
19	BHLHE40	chr4:79698092-79698300	HepG2	liver:	n/a	n/a
20	BHLHE40	chr4:79696445-79697724	K562	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
21	BHLHE40	chr4:79696606-79697696	HepG2	liver:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
22	BRCA1	chr4:79697140-79697152	HepG2	liver:	n/a	n/a
23	BRCA1	chr4:79696288-79697045	Hela-S3	cervix:	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	chr4:79698136-79698187	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:79696166-79696448	A549	lung:	n/a	n/a
29	CEBPB	chr4:79696171-79696471	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:79696115-79696624	K562	blood:	n/a	n/a
31	CEBPB	chr4:79696128-79697224	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr4:79698098-79698385	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr4:79696880-79697788	K562	blood:	n/a	n/a
34	CEBPD	chr4:79696855-79697699	HepG2	liver:	n/a	n/a
35	CEBPD	chr4:79697208-79697436	HepG2	liver:	n/a	n/a
36	CHD1	chr4:79697952-79697981	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr4:79698250-79698789	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr4:79695833-79697696	GM12878	blood:	n/a	n/a
39	CHD1	chr4:79696188-79697060	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr4:79698071-79698990	GM12878	blood:	n/a	n/a
41	CHD2	chr4:79696686-79697418	HepG2	liver:	n/a	n/a
42	CHD2	chr4:79696642-79697191	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr4:79696510-79697280	K562	blood:	n/a	n/a
44	CHD2	chr4:79698071-79698508	GM12878	blood:	n/a	n/a
45	CHD2	chr4:79698186-79698365	K562	blood:	n/a	n/a
46	CHD2	chr4:79698005-79698458	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr4:79698197-79698239	HepG2	liver:	n/a	n/a
48	CHD2	chr4:79696623-79697521	GM12878	blood:	n/a	n/a
49	CHD2	chr4:79696255-79697689	Hela-S3	cervix:	n/a	n/a
50	CREB1	chr4:79696701-79697405	H1-hESC	embryonic stem cell:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79697739-79697789	HEEpiC	esophagus:	n/a
2	chr4:79697329-79697379	HIPEpiC	eye:	n/a
3	chr4:79698242-79698292	SAEC	small airway:	n/a
4	chr4:79696708-79696758	PrEC	prostate:	n/a
5	chr4:79697329-79697379	HAEpiC	amniotic membrane:	n/a
6	chr4:79697583-79697633	K562	blood:	n/a
7	chr4:79698201-79698251	ECC-1	luminal epithelium:	n/a
8	chr4:79697583-79697633	HEEpiC	esophagus:	n/a
9	chr4:79697739-79697789	RPTEC	kidney:	n/a
10	chr4:79698242-79698292	AG09309	skin:	n/a
11	chr4:79697583-79697633	SK-N-MC	brain:	n/a
12	chr4:79696708-79696758	MCF-7	breast:	n/a
13	chr4:79696708-79696758	PANC-1	pancreas:	n/a
14	chr4:79697583-79697633	HAEpiC	amniotic membrane:	n/a
15	chr4:79698242-79698292	PANC-1	pancreas:	n/a
16	chr4:79697329-79697379	Hela-S3	cervix:	n/a
17	chr4:79698168-79698218	HMEC	breast:	n/a
18	chr4:79697739-79697789	AG04450	lung:	fetal
19	chr4:79696647-79696697	HEEpiC	esophagus:	n/a
20	chr4:79696555-79696605	GM12878	blood:	n/a
21	chr4:79696555-79696605	SKMC	muscle:	n/a
22	chr4:79698242-79698292	U87	brain:	n/a
23	chr4:79696555-79696605	HUVEC	blood vessel:	n/a
24	chr4:79698242-79698292	NHDF-neo	bronchial:	n/a
25	chr4:79696555-79696605	HRE	kidney:	n/a
26	chr4:79698201-79698251	HEEpiC	esophagus:	n/a
27	chr4:79697329-79697379	NH-A	brain:	n/a
28	chr4:79697739-79697789	SK-N-SH_RA	brain:	n/a
29	chr4:79696555-79696605	BJ	skin:	n/a
30	chr4:79698201-79698251	T-47D	breast:	n/a
31	chr4:79698242-79698292	HRCEpiC	kidney:	n/a
32	chr4:79698201-79698251	NHDF-neo	bronchial:	n/a
33	chr4:79696647-79696697	GM12891	blood:	n/a
34	chr4:79697583-79697633	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:79696708-79696758	RPTEC	kidney:	n/a
36	chr4:79697329-79697379	GM19239	blood:	n/a
37	chr4:79697739-79697789	ProgFib	skin:	n/a
38	chr4:79697583-79697633	AG04450	lung:	fetal
39	chr4:79697583-79697633	AG04449	skin:	fetal
40	chr4:79697739-79697789	HEK293	kidney:	embryo
41	chr4:79697739-79697789	HepG2	liver:	n/a
42	chr4:79697739-79697789	U87	brain:	n/a
43	chr4:79696647-79696697	SK-N-SH	brain:	n/a
44	chr4:79697329-79697379	AG09309	skin:	n/a
45	chr4:79696647-79696697	SK-N-MC	brain:	n/a
46	chr4:79696708-79696758	Jurkat	blood:	n/a
47	chr4:79697583-79697633	HCPEpiC	choroid plexus:	n/a
48	chr4:79698242-79698292	ProgFib	skin:	n/a
49	chr4:79697742-79697792	AG09319	gingival:	n/a
50	chr4:79698242-79698292	SK-N-MC	brain:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79699190..79702080-chr4:79704302..79706989,3	MCF-7	breast:
2	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:
5	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
6	chr4:79697991..79698551-chr4:79785291..79786155,2	MCF-7	breast:
7	chr4:79676661..79679162-chr4:79694637..79696425,2	K562	blood:
8	chr4:79591975..79594296-chr4:79697576..79699186,2	K562	blood:
9	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
10	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
11	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
12	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
13	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
14	chr12:6309195..6310003-chr4:79696831..79697536,2	Hela-S3	cervix:
15	chr4:79557978..79560128-chr4:79697718..79699238,2	MCF-7	breast:
16	chr4:79697362..79698154-chrX:118601587..118602475,2	HCT-116	colon:
17	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
18	chr4:79566015..79567656-chr4:79699216..79701058,2	MCF-7	breast:
19	chr4:79697257..79699576-chr4:79770892..79773352,2	MCF-7	breast:
20	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
21	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
22	chr4:79696772..79697553-chr6:43737917..43738589,2	Hela-S3	cervix:
23	chr4:79531023..79534724-chr4:79692809..79696400,3	K562	blood:

(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
ENSG00000251019	chromatin interactions
ENSG00000138772	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000010278	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000005022	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000251442	chromatin interactions
ENSG00000239793	chromatin interactions
ENSG00000224281	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186415310	chr4:79696200-79696201	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs528512490	chr4:79696234-79696235	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs72659092	chr4:79696249-79696250	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200847759	chr4:79696259-79696260	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs564047527	chr4:79696331-79696332	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs35991005	chr4:79696345-79696346	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs397842027	chr4:79696367-79696368	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs532938568	chr4:79696370-79696371	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs549971377	chr4:79696406-79696407	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs148307579	chr4:79696414-79696415	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs375294386	chr4:79696436-79696437	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs535520103	chr4:79696441-79696442	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs190474235	chr4:79696453-79696454	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs976926	chr4:79696478-79696479	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs78650477	chr4:79696480-79696481	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs534648341	chr4:79696511-79696512	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs74398077	chr4:79696527-79696528	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs578255063	chr4:79696537-79696538	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
19	rs372479675	chr4:79696552-79696553	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs182140866	chr4:79696572-79696573	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79687600-79696200	Weak transcription	Osteobl	bone
2	chr4:79689800-79696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79690000-79696200	Weak transcription	HMEC	breast
4	chr4:79691000-79696200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:79691000-79696200	Weak transcription	Fetal Thymus	thymus
6	chr4:79691000-79696200	Weak transcription	HSMM	muscle
7	chr4:79691600-79696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:79695400-79696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:79695400-79696200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:79695400-79696200	Enhancers	HSMMtube	muscle
11	chr4:79695400-79696400	Flanking Active TSS	GM12878-XiMat	blood
12	chr4:79695600-79696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:79695600-79696200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:79695600-79696200	Weak transcription	Aorta	Aorta
15	chr4:79695600-79696200	Enhancers	Colon Smooth Muscle	Colon
16	chr4:79695600-79696200	Enhancers	Fetal Heart	heart
17	chr4:79695600-79696200	Enhancers	Fetal Intestine Large	intestine
18	chr4:79695600-79696200	Enhancers	Fetal Intestine Small	intestine
19	chr4:79695600-79696200	Enhancers	Fetal Kidney	kidney
20	chr4:79695600-79696200	Enhancers	Fetal Lung	lung
21	chr4:79695600-79696200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:79695600-79696200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:79695600-79696200	Enhancers	Dnd41	blood
24	chr4:79695600-79696400	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:79695800-79696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:79695800-79696200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:79695800-79696200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:79695800-79696200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:79695800-79696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:79695800-79696200	Enhancers	Liver	Liver
31	chr4:79695800-79696200	Enhancers	Brain Substantia Nigra	brain
32	chr4:79695800-79696200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:79695800-79696200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:79695800-79696200	Weak transcription	Fetal Stomach	stomach
35	chr4:79695800-79696200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:79695800-79696200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:79695800-79696200	Enhancers	A549	lung
38	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:79696000-79696200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:79696000-79696200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:79696000-79696200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:79696000-79696200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:79696000-79696200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:79696000-79696200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:79696000-79696200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:79696000-79696200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:79696000-79696200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:79696000-79696200	Enhancers	Brain Angular Gyrus	brain
50	chr4:79696000-79696200	Enhancers	Brain Cingulate Gyrus	brain

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