Variant report

Variant	esv3403342
Chromosome Location	chr5:179231746-179236044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:797)
CpG islands
(count:858)
Chromatin interactive
region (count:25)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:797 , 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	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
4	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
5	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr5:179232078-179232689	A549	lung:	n/a	n/a
7	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
8	BCLAF1	chr5:179233740-179234111	K562	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
9	BCLAF1	chr5:179233728-179234172	GM12878	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
10	BHLHE40	chr5:179234344-179234532	K562	blood:	n/a	n/a
11	BHLHE40	chr5:179232749-179233129	GM12878	blood:	n/a	chr5:179232950-179232966 chr5:179233072-179233088
12	BHLHE40	chr5:179232708-179233154	K562	blood:	n/a	chr5:179232950-179232966 chr5:179233137-179233153 chr5:179233072-179233088
13	BHLHE40	chr5:179233806-179234094	K562	blood:	n/a	n/a
14	BRCA1	chr5:179234438-179234469	HepG2	liver:	n/a	n/a
15	BRCA1	chr5:179232207-179232304	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr5:179233869-179233929	H1-hESC	embryonic stem cell:	n/a	n/a
17	CBX3	chr5:179234238-179234861	K562	blood:	n/a	n/a
18	CBX3	chr5:179233666-179233988	K562	blood:	n/a	n/a
19	CBX3	chr5:179232908-179233298	K562	blood:	n/a	n/a
20	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246
21	CCNT2	chr5:179234917-179235177	K562	blood:	n/a	n/a
22	CEBPB	chr5:179234632-179234761	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:179235309-179235636	A549	lung:	n/a	n/a
24	CEBPB	chr5:179234596-179234796	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr5:179235147-179235631	A549	lung:	n/a	n/a
26	CEBPB	chr5:179234635-179234713	K562	blood:	n/a	n/a
27	CEBPB	chr5:179235294-179235665	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:179235340-179235643	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr5:179235022-179235353	HepG2	liver:	n/a	n/a
30	CEBPD	chr5:179233678-179234084	HepG2	liver:	n/a	n/a
31	CEBPD	chr5:179233866-179234065	HepG2	liver:	n/a	n/a
32	CEBPD	chr5:179233721-179234074	K562	blood:	n/a	n/a
33	CHD1	chr5:179233711-179234131	IMR90	lung:	n/a	n/a
34	CHD1	chr5:179233559-179233580	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr5:179232279-179233697	IMR90	lung:	n/a	chr5:179233354-179233364
36	CHD1	chr5:179234179-179234578	IMR90	lung:	n/a	n/a
37	CHD1	chr5:179232352-179233567	GM12878	blood:	n/a	chr5:179233354-179233364
38	CHD2	chr5:179233914-179234206	K562	blood:	n/a	n/a
39	CHD2	chr5:179233775-179234116	GM12878	blood:	n/a	n/a
40	CHD2	chr5:179233809-179234186	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr5:179234424-179234509	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr5:179234471-179234512	K562	blood:	n/a	n/a
43	CHD2	chr5:179232055-179233585	Hela-S3	cervix:	n/a	chr5:179233354-179233364
44	CHD2	chr5:179234424-179234430	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr5:179235104-179235170	HepG2	liver:	n/a	n/a
46	CHD2	chr5:179232114-179232157	HepG2	liver:	n/a	n/a
47	CHD2	chr5:179234365-179234499	HepG2	liver:	n/a	n/a
48	CHD2	chr5:179233185-179233194	K562	blood:	n/a	n/a
49	CHD2	chr5:179232704-179233312	GM12878	blood:	n/a	n/a
50	CREB1	chr5:179233735-179234231	A549	lung:	n/a	n/a

(count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179234594-179234644	AG09309	skin:	n/a
2	chr5:179233770-179233820	Hela-S3	cervix:	n/a
3	chr5:179235209-179235259	GM12892	blood:	n/a
4	chr5:179233875-179233925	ovcar-3	ovarian:	n/a
5	chr5:179234594-179234644	AG09309	skin:	n/a
6	chr5:179233770-179233820	Hela-S3	cervix:	n/a
7	chr5:179235209-179235259	GM12892	blood:	n/a
8	chr5:179233875-179233925	ovcar-3	ovarian:	n/a
9	chr5:179234149-179234199	AG09309	skin:	n/a
10	chr5:179233856-179233906	Hepatocyte	liver:	n/a
11	chr5:179234439-179234489	Hepatocyte	liver:	n/a
12	chr5:179233137-179233187	HIPEpiC	eye:	n/a
13	chr5:179232937-179232987	HMEC	breast:	n/a
14	chr5:179233856-179233906	SK-N-MC	brain:	n/a
15	chr5:179233770-179233820	Jurkat	blood:	n/a
16	chr5:179233122-179233172	HL-60	blood:	n/a
17	chr5:179233137-179233187	U87	brain:	n/a
18	chr5:179232937-179232987	ECC-1	luminal epithelium:	n/a
19	chr5:179235209-179235259	SKMC	muscle:	n/a
20	chr5:179234187-179234237	HMEC	breast:	n/a
21	chr5:179234187-179234237	GM06990	blood:	n/a
22	chr5:179232937-179232987	ProgFib	skin:	n/a
23	chr5:179233122-179233172	GM12878	blood:	n/a
24	chr5:179233856-179233906	PFSK-1	brain:	n/a
25	chr5:179233589-179233639	SAEC	small airway:	n/a
26	chr5:179233589-179233639	MCF-7	breast:	n/a
27	chr5:179234187-179234237	HCM	heart:	n/a
28	chr5:179233856-179233906	AoSMC	blood vessel:	n/a
29	chr5:179234594-179234644	T-47D	breast:	n/a
30	chr5:179232165-179232215	PrEC	prostate:	n/a
31	chr5:179233875-179233925	K562	blood:	n/a
32	chr5:179233770-179233820	ovcar-3	ovarian:	n/a
33	chr5:179235209-179235259	HepG2	liver:	n/a
34	chr5:179233875-179233925	AG04450	lung:	fetal
35	chr5:179232937-179232987	BE2_C	brain:	n/a
36	chr5:179232533-179232583	Hela-S3	cervix:	n/a
37	chr5:179232165-179232215	K562	blood:	n/a
38	chr5:179233589-179233639	AG04450	lung:	fetal
39	chr5:179235209-179235259	NT2-D1	testis:	n/a
40	chr5:179232165-179232215	LNCaP	prostate:	n/a
41	chr5:179232937-179232987	ovcar-3	ovarian:	n/a
42	chr5:179234594-179234644	SK-N-MC	brain:	n/a
43	chr5:179234149-179234199	AG10803	skin:	n/a
44	chr5:179233770-179233820	HCF	heart:	n/a
45	chr5:179234594-179234644	A549	lung:	n/a
46	chr5:179232165-179232215	AG09309	skin:	n/a
47	chr5:179233856-179233906	SAEC	small airway:	n/a
48	chr5:179234149-179234199	GM06990	blood:	n/a
49	chr5:179234439-179234489	NHBE	bronchial:	n/a
50	chr5:179232533-179232583	AoSMC	blood vessel:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
2	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
3	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
4	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
5	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
6	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
7	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
8	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
9	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
10	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
11	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
12	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
13	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
14	chr5:179232661..179233569-chr5:179247811..179248453,2	MCF-7	breast:
15	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
16	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
17	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
18	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
19	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
20	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
21	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
22	chr5:179234572..179235304-chr5:179245240..179246114,2	HCT-116	colon:
23	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
24	chr10:120598672..120599438-chr5:179234759..179235474,2	HCT-116	colon:
25	chr3:48487800..48488607-chr5:179233338..179233841,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
2	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
3	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
4	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629

No data

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
SQSTM1	CpG island
MGAT4B	CpG island
ENSG00000161010	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000171940	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377634910	chr5:179231749-179231750	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs535898336	chr5:179231759-179231760	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs547496865	chr5:179231817-179231818	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs565703102	chr5:179231829-179231830	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs2450483	chr5:179231884-179231885	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114418886	chr5:179231907-179231908	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs576320361	chr5:179231923-179231924	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs536842965	chr5:179231928-179231929	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs555582994	chr5:179232001-179232002	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs562229809	chr5:179232004-179232005	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs73351608	chr5:179232064-179232065	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541084312	chr5:179232104-179232105	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs559503654	chr5:179232120-179232121	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs371359173	chr5:179232128-179232129	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs112562003	chr5:179232167-179232168	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs557999939	chr5:179232192-179232193	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs577680984	chr5:179232214-179232215	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs184632941	chr5:179232293-179232294	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs538608869	chr5:179232334-179232335	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs564617316	chr5:179232363-179232364	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs532080631	chr5:179232385-179232386	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs145832095	chr5:179232388-179232389	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs562269298	chr5:179232410-179232411	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs529480252	chr5:179232486-179232487	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs547458341	chr5:179232498-179232499	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs189513704	chr5:179232503-179232504	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs376220453	chr5:179232508-179232509	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs539432033	chr5:179232510-179232511	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs141728243	chr5:179232545-179232546	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs569847804	chr5:179232560-179232561	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs537303630	chr5:179232570-179232571	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs555382266	chr5:179232594-179232595	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs73351610	chr5:179232603-179232604	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113312632	chr5:179232682-179232683	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs377444608	chr5:179232686-179232687	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs534831967	chr5:179232707-179232708	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs144610076	chr5:179232710-179232711	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs138548678	chr5:179232760-179232761	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs553079326	chr5:179232763-179232764	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs577855691	chr5:179232780-179232781	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs545020410	chr5:179232785-179232786	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs563250315	chr5:179232833-179232834	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs575142169	chr5:179232932-179232933	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs114492818	chr5:179232966-179232967	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs562266225	chr5:179232971-179232972	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs529425198	chr5:179232977-179232978	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs76500766	chr5:179232999-179233000	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs554136636	chr5:179233106-179233107	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs368932105	chr5:179233107-179233108	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs142474510	chr5:179233140-179233141	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179224000-179232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:179226200-179232200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179226800-179233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:179227200-179231800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:179227600-179232000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:179227800-179232000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:179227800-179232200	Enhancers	Fetal Heart	heart
8	chr5:179228000-179232400	Weak transcription	Aorta	Aorta
9	chr5:179228400-179232400	Genic enhancers	Placenta	Placenta
10	chr5:179228600-179232200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:179228800-179231800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:179228800-179231800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:179228800-179232000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:179228800-179232000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:179228800-179232000	Enhancers	Brain Hippocampus Middle	brain
16	chr5:179228800-179232000	Genic enhancers	Fetal Stomach	stomach
17	chr5:179228800-179232200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:179228800-179232200	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr5:179228800-179232400	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:179228800-179232400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:179228800-179232400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:179228800-179232400	Enhancers	Fetal Thymus	thymus
23	chr5:179229000-179231800	Enhancers	Colon Smooth Muscle	Colon
24	chr5:179229000-179232000	Enhancers	Pancreas	Pancrea
25	chr5:179229200-179231800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:179229200-179231800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:179229200-179231800	Enhancers	HMEC	breast
28	chr5:179229200-179232000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:179229400-179232200	Enhancers	Left Ventricle	heart
30	chr5:179229400-179232400	Enhancers	Primary B cells from cord blood	blood
31	chr5:179229600-179231800	Enhancers	Fetal Intestine Large	intestine
32	chr5:179229600-179232000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:179229600-179232000	Enhancers	NH-A	brain
34	chr5:179229600-179232200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:179229800-179231800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:179229800-179231800	Enhancers	NHEK	skin
37	chr5:179230000-179231800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:179230000-179231800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:179230000-179231800	Enhancers	Osteobl	bone
40	chr5:179230000-179232000	Enhancers	K562	blood
41	chr5:179230000-179232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:179230000-179232200	Enhancers	Primary T cells from cord blood	blood
43	chr5:179230000-179232400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:179230000-179232800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:179230200-179231800	Enhancers	HUVEC	blood vessel
46	chr5:179230200-179232000	Enhancers	Gastric	stomach
47	chr5:179230200-179232000	Enhancers	Lung	lung
48	chr5:179230200-179232400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:179230200-179232400	Enhancers	Fetal Lung	lung
50	chr5:179230200-179232400	Enhancers	Thymus	Thymus

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