Variant report

Variant	esv988291
Chromosome Location	chr5:179233076-179240737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:780)
CpG islands
(count:856)
Chromatin interactive
region (count:22)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:780 , 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	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
5	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
6	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
7	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
9	BCLAF1	chr5:179233740-179234111	K562	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
10	BCLAF1	chr5:179233728-179234172	GM12878	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
11	BHLHE40	chr5:179240184-179240442	K562	blood:	n/a	n/a
12	BHLHE40	chr5:179234344-179234532	K562	blood:	n/a	n/a
13	BHLHE40	chr5:179238665-179238699	K562	blood:	n/a	n/a
14	BHLHE40	chr5:179232749-179233129	GM12878	blood:	n/a	chr5:179232950-179232966 chr5:179233072-179233088
15	BHLHE40	chr5:179233806-179234094	K562	blood:	n/a	n/a
16	BHLHE40	chr5:179232708-179233154	K562	blood:	n/a	chr5:179232950-179232966 chr5:179233137-179233153 chr5:179233072-179233088
17	BRCA1	chr5:179233869-179233929	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr5:179234438-179234469	HepG2	liver:	n/a	n/a
19	CBX3	chr5:179233666-179233988	K562	blood:	n/a	n/a
20	CBX3	chr5:179238100-179238861	K562	blood:	n/a	n/a
21	CBX3	chr5:179234238-179234861	K562	blood:	n/a	n/a
22	CBX3	chr5:179232908-179233298	K562	blood:	n/a	n/a
23	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246
24	CCNT2	chr5:179234917-179235177	K562	blood:	n/a	n/a
25	CEBPB	chr5:179234635-179234713	K562	blood:	n/a	n/a
26	CEBPB	chr5:179238488-179238602	HepG2	liver:	n/a	chr5:179238535-179238546
27	CEBPB	chr5:179235147-179235631	A549	lung:	n/a	n/a
28	CEBPB	chr5:179235340-179235643	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:179234632-179234761	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr5:179235309-179235636	A549	lung:	n/a	n/a
31	CEBPB	chr5:179235294-179235665	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:179234596-179234796	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr5:179238535-179238550	K562	blood:	n/a	chr5:179238535-179238546
34	CEBPD	chr5:179233678-179234084	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:179233721-179234074	K562	blood:	n/a	n/a
36	CEBPD	chr5:179233866-179234065	HepG2	liver:	n/a	n/a
37	CEBPD	chr5:179235022-179235353	HepG2	liver:	n/a	n/a
38	CHD1	chr5:179233711-179234131	IMR90	lung:	n/a	n/a
39	CHD1	chr5:179233559-179233580	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr5:179232352-179233567	GM12878	blood:	n/a	chr5:179233354-179233364
41	CHD1	chr5:179232279-179233697	IMR90	lung:	n/a	chr5:179233354-179233364
42	CHD1	chr5:179234179-179234578	IMR90	lung:	n/a	n/a
43	CHD2	chr5:179235104-179235170	HepG2	liver:	n/a	n/a
44	CHD2	chr5:179234424-179234430	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr5:179233809-179234186	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr5:179234365-179234499	HepG2	liver:	n/a	n/a
47	CHD2	chr5:179232704-179233312	GM12878	blood:	n/a	n/a
48	CHD2	chr5:179234471-179234512	K562	blood:	n/a	n/a
49	CHD2	chr5:179232055-179233585	Hela-S3	cervix:	n/a	chr5:179233354-179233364
50	CHD2	chr5:179233185-179233194	K562	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179233875-179233925	T-47D	breast:	n/a
2	chr5:179234439-179234489	SAEC	small airway:	n/a
3	chr5:179233875-179233925	T-47D	breast:	n/a
4	chr5:179234439-179234489	SAEC	small airway:	n/a
5	chr5:179234594-179234644	PANC-1	pancreas:	n/a
6	chr5:179234594-179234644	RPTEC	kidney:	n/a
7	chr5:179234594-179234644	LNCaP	prostate:	n/a
8	chr5:179238472-179238522	NHDF-neo	bronchial:	n/a
9	chr5:179233856-179233906	HEEpiC	esophagus:	n/a
10	chr5:179233770-179233820	CMK	blood:	n/a
11	chr5:179233122-179233172	AG09309	skin:	n/a
12	chr5:179234149-179234199	HRE	kidney:	n/a
13	chr5:179235209-179235259	HCF	heart:	n/a
14	chr5:179233856-179233906	NHDF-neo	bronchial:	n/a
15	chr5:179239447-179239497	NHBE	bronchial:	n/a
16	chr5:179234187-179234237	T-47D	breast:	n/a
17	chr5:179234439-179234489	GM12878	blood:	n/a
18	chr5:179233875-179233925	SK-N-MC	brain:	n/a
19	chr5:179239447-179239497	PFSK-1	brain:	n/a
20	chr5:179235209-179235259	HNPCEpiC	eye:	n/a
21	chr5:179233122-179233172	Jurkat	blood:	n/a
22	chr5:179235209-179235259	GM12892	blood:	n/a
23	chr5:179234594-179234644	GM19239	blood:	n/a
24	chr5:179233137-179233187	RPTEC	kidney:	n/a
25	chr5:179234149-179234199	SK-N-SH	brain:	n/a
26	chr5:179234187-179234237	HRPEpiC	eye:	n/a
27	chr5:179233137-179233187	BJ	skin:	n/a
28	chr5:179239447-179239497	ECC-1	luminal epithelium:	n/a
29	chr5:179233770-179233820	HMEC	breast:	n/a
30	chr5:179233137-179233187	NHBE	bronchial:	n/a
31	chr5:179234594-179234644	PFSK-1	brain:	n/a
32	chr5:179234439-179234489	MCF-7	breast:	n/a
33	chr5:179233770-179233820	HEK293	kidney:	embryo
34	chr5:179233856-179233906	H1-hESC	embryonic stem cell:	embryo
35	chr5:179238472-179238522	PFSK-1	brain:	n/a
36	chr5:179233875-179233925	AG10803	skin:	n/a
37	chr5:179235209-179235259	HUVEC	blood vessel:	n/a
38	chr5:179235209-179235259	Hela-S3	cervix:	n/a
39	chr5:179233770-179233820	GM12892	blood:	n/a
40	chr5:179234149-179234199	GM06990	blood:	n/a
41	chr5:179234187-179234237	RPTEC	kidney:	n/a
42	chr5:179233875-179233925	HIPEpiC	eye:	n/a
43	chr5:179239447-179239497	HL-60	blood:	n/a
44	chr5:179233875-179233925	HCF	heart:	n/a
45	chr5:179233122-179233172	HCT-116	colon:	n/a
46	chr5:179233856-179233906	HCF	heart:	n/a
47	chr5:179234439-179234489	SK-N-SH_RA	brain:	n/a
48	chr5:179234149-179234199	ProgFib	skin:	n/a
49	chr5:179233875-179233925	HUVEC	blood vessel:	n/a
50	chr5:179233137-179233187	GM12892	blood:	n/a

(count:22 , 50 per page) page: 1

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

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
2	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
3	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
4	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
5	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
6	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
7	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629
8	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
9	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627

No data

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

Extended variants
information (count: 340 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	rs541261412	chr5:179233156-179233157	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
5	rs112938505	chr5:179233172-179233173	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
6	rs534936201	chr5:179233175-179233176	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
7	rs180964253	chr5:179233213-179233214	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
8	rs184985685	chr5:179233273-179233274	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs530824163	chr5:179233310-179233311	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs549229353	chr5:179233324-179233325	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs200371423	chr5:179233456-179233457	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
12	rs534803525	chr5:179233463-179233464	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
13	rs553253185	chr5:179233479-179233480	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
14	rs202144612	chr5:179233507-179233508	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
15	rs538699566	chr5:179233542-179233543	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
16	rs148799128	chr5:179233545-179233546	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
17	rs201297801	chr5:179233557-179233558	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
18	rs542286553	chr5:179233559-179233560	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
19	rs556009554	chr5:179233593-179233594	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs561073025	chr5:179233663-179233664	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs574034982	chr5:179233666-179233667	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs541223323	chr5:179233704-179233705	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs11547065	chr5:179233740-179233741	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs7442857	chr5:179233839-179233840	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs6880145	chr5:179233892-179233893	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs545448888	chr5:179233907-179233908	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs563650957	chr5:179233908-179233909	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs530910084	chr5:179233924-179233925	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs549140925	chr5:179233935-179233936	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs546034674	chr5:179233938-179233939	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs567567422	chr5:179233954-179233955	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs57700585	chr5:179233966-179233967	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs546927750	chr5:179233980-179233981	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs571434245	chr5:179233997-179233998	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs538860028	chr5:179234058-179234059	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs59066892	chr5:179234122-179234123	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181836948	chr5:179234123-179234124	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs559539498	chr5:179234136-179234137	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs111605951	chr5:179234143-179234144	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs368184438	chr5:179234171-179234172	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs572828792	chr5:179234198-179234199	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs554314447	chr5:179234214-179234215	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs572507070	chr5:179234251-179234252	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs541285857	chr5:179234277-179234278	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs553264475	chr5:179234362-179234363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
46	rs73351618	chr5:179234375-179234376	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4700842	chr5:179234522-179234523	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565037983	chr5:179234578-179234579	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
49	rs187018961	chr5:179234602-179234603	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
50	rs150752758	chr5:179234626-179234627	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179226800-179233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:179231200-179233200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr5:179232000-179234800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:179232000-179235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:179232200-179233200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179232200-179233200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr5:179232200-179233200	Flanking Active TSS	Dnd41	blood
8	chr5:179232200-179234600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:179232200-179234600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:179232200-179234600	Active TSS	NHEK	skin
11	chr5:179232200-179234800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:179232200-179234800	Active TSS	Colon Smooth Muscle	Colon
13	chr5:179232400-179233200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr5:179232400-179233200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:179232400-179233200	Flanking Active TSS	Thymus	Thymus
16	chr5:179232400-179233400	Active TSS	Stomach Mucosa	stomach
17	chr5:179232400-179233600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:179232400-179234400	Active TSS	Aorta	Aorta
19	chr5:179232400-179234600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:179232400-179234600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:179232400-179234600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:179232400-179234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:179232400-179234600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:179232400-179234600	Active TSS	Brain Substantia Nigra	brain
25	chr5:179232400-179234600	Active TSS	Fetal Kidney	kidney
26	chr5:179232400-179234600	Active TSS	HSMMtube	muscle
27	chr5:179232400-179234600	Active TSS	NHDF-Ad	bronchial
28	chr5:179232400-179234600	Active TSS	NHLF	lung
29	chr5:179232400-179234800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:179232400-179234800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:179232400-179235000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:179232400-179235000	Active TSS	A549	lung
33	chr5:179232400-179235200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:179232600-179233200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:179232600-179233400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr5:179232600-179233800	Active TSS	Right Atrium	heart
37	chr5:179232600-179234400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:179232600-179234400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:179232600-179234600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:179232600-179234600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:179232600-179234600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:179232600-179234600	Active TSS	Liver	Liver
43	chr5:179232600-179234600	Active TSS	Brain Anterior Caudate	brain
44	chr5:179232600-179234600	Active TSS	Brain Cingulate Gyrus	brain
45	chr5:179232600-179234600	Active TSS	Brain Hippocampus Middle	brain
46	chr5:179232600-179234600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:179232600-179234600	Active TSS	Esophagus	oesophagus
48	chr5:179232600-179234600	Active TSS	Fetal Lung	lung
49	chr5:179232600-179234600	Active TSS	Ovary	ovary
50	chr5:179232600-179234600	Active TSS	Right Ventricle	heart

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