Variant report

Variant	nsv600668
Chromosome Location	chr5:179227865-179242581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1447)
CpG islands
(count:1588)
Chromatin interactive
region (count:37)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1447 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

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	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
7	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
9	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
10	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr5:179228673-179229260	A549	lung:	n/a	n/a
13	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
14	BCL3	chr5:179228740-179229314	A549	lung:	n/a	n/a
15	BCL3	chr5:179232078-179232689	A549	lung:	n/a	n/a
16	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
17	BCLAF1	chr5:179233740-179234111	K562	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
18	BCLAF1	chr5:179233728-179234172	GM12878	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
19	BCLAF1	chr5:179228755-179229209	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:179228760-179229168	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:179232708-179233154	K562	blood:	n/a	chr5:179232950-179232966 chr5:179233137-179233153 chr5:179233072-179233088
22	BHLHE40	chr5:179230771-179230856	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:179228840-179229271	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:179231154-179231372	K562	blood:	n/a	n/a
25	BHLHE40	chr5:179232749-179233129	GM12878	blood:	n/a	chr5:179232950-179232966 chr5:179233072-179233088
26	BHLHE40	chr5:179238665-179238699	K562	blood:	n/a	n/a
27	BHLHE40	chr5:179240184-179240442	K562	blood:	n/a	n/a
28	BHLHE40	chr5:179233806-179234094	K562	blood:	n/a	n/a
29	BHLHE40	chr5:179228930-179229106	K562	blood:	n/a	n/a
30	BHLHE40	chr5:179230689-179230840	K562	blood:	n/a	n/a
31	BHLHE40	chr5:179234344-179234532	K562	blood:	n/a	n/a
32	BRCA1	chr5:179232207-179232304	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr5:179233869-179233929	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr5:179234438-179234469	HepG2	liver:	n/a	n/a
35	CBX3	chr5:179232908-179233298	K562	blood:	n/a	n/a
36	CBX3	chr5:179238100-179238861	K562	blood:	n/a	n/a
37	CBX3	chr5:179234238-179234861	K562	blood:	n/a	n/a
38	CBX3	chr5:179233666-179233988	K562	blood:	n/a	n/a
39	CCNT2	chr5:179234917-179235177	K562	blood:	n/a	n/a
40	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246
41	CEBPB	chr5:179238488-179238602	HepG2	liver:	n/a	chr5:179238535-179238546
42	CEBPB	chr5:179235309-179235636	A549	lung:	n/a	n/a
43	CEBPB	chr5:179231078-179231117	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:179235147-179235631	A549	lung:	n/a	n/a
45	CEBPB	chr5:179234632-179234761	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr5:179234596-179234796	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr5:179235340-179235643	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr5:179229927-179230039	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr5:179235294-179235665	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:179238535-179238550	K562	blood:	n/a	chr5:179238535-179238546

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179239447-179239497	IMR90	lung:	fetal
2	chr5:179233122-179233172	AG10803	skin:	n/a
3	chr5:179239447-179239497	IMR90	lung:	fetal
4	chr5:179233122-179233172	AG10803	skin:	n/a
5	chr5:179232533-179232583	T-47D	breast:	n/a
6	chr5:179233589-179233639	NB4	blood:	n/a
7	chr5:179232937-179232987	AG04450	lung:	fetal
8	chr5:179233589-179233639	GM12878	blood:	n/a
9	chr5:179231109-179231159	Caco-2	colon:	n/a
10	chr5:179228635-179228685	GM19239	blood:	n/a
11	chr5:179239690-179239740	AoSMC	blood vessel:	n/a
12	chr5:179232165-179232215	HL-60	blood:	n/a
13	chr5:179228489-179228539	HUVEC	blood vessel:	n/a
14	chr5:179234187-179234237	HCF	heart:	n/a
15	chr5:179232937-179232987	GM12878	blood:	n/a
16	chr5:179232165-179232215	HNPCEpiC	eye:	n/a
17	chr5:179239690-179239740	HepG2	liver:	n/a
18	chr5:179230002-179230052	NHBE	bronchial:	n/a
19	chr5:179230002-179230052	Jurkat	blood:	n/a
20	chr5:179235209-179235259	SAEC	small airway:	n/a
21	chr5:179230709-179230759	ECC-1	luminal epithelium:	n/a
22	chr5:179232165-179232215	AG04449	skin:	fetal
23	chr5:179232165-179232215	LNCaP	prostate:	n/a
24	chr5:179234149-179234199	RPTEC	kidney:	n/a
25	chr5:179228489-179228539	H1-hESC	embryonic stem cell:	embryo
26	chr5:179233137-179233187	IMR90	lung:	fetal
27	chr5:179230709-179230759	ProgFib	skin:	n/a
28	chr5:179230002-179230052	SK-N-SH_RA	brain:	n/a
29	chr5:179233122-179233172	AG04450	lung:	fetal
30	chr5:179228489-179228539	SK-N-SH	brain:	n/a
31	chr5:179233589-179233639	PANC-1	pancreas:	n/a
32	chr5:179234187-179234237	AoSMC	blood vessel:	n/a
33	chr5:179235209-179235259	HRE	kidney:	n/a
34	chr5:179233137-179233187	BJ	skin:	n/a
35	chr5:179230866-179230916	HCT-116	colon:	n/a
36	chr5:179241969-179242019	MCF10A-Er-Src	breast:	n/a
37	chr5:179234187-179234237	Hela-S3	cervix:	n/a
38	chr5:179232533-179232583	SK-N-SH_RA	brain:	n/a
39	chr5:179233137-179233187	HRE	kidney:	n/a
40	chr5:179233122-179233172	BE2_C	brain:	n/a
41	chr5:179229353-179229403	HL-60	blood:	n/a
42	chr5:179234594-179234644	GM19239	blood:	n/a
43	chr5:179234149-179234199	NB4	blood:	n/a
44	chr5:179232937-179232987	IMR90	lung:	fetal
45	chr5:179233137-179233187	NT2-D1	testis:	n/a
46	chr5:179234149-179234199	NHDF-neo	bronchial:	n/a
47	chr5:179234187-179234237	SK-N-SH	brain:	n/a
48	chr5:179234439-179234489	U87	brain:	n/a
49	chr5:179231109-179231159	NH-A	brain:	n/a
50	chr5:179233875-179233925	HIPEpiC	eye:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
2	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
3	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
4	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
5	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
6	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
7	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
8	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
9	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
10	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
11	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
12	chr5:179049277..179051716-chr5:179241526..179243213,2	K562	blood:
13	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
14	chr5:179234572..179235304-chr5:179245240..179246114,2	HCT-116	colon:
15	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
16	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
17	chr5:179232661..179233569-chr5:179247811..179248453,2	MCF-7	breast:
18	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
19	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
20	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
21	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
22	chr10:120598672..120599438-chr5:179234759..179235474,2	HCT-116	colon:
23	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
24	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
25	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
26	chr5:179048735..179051281-chr5:179242342..179244613,2	MCF-7	breast:
27	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
28	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
29	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
30	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
31	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
32	chr3:48487800..48488607-chr5:179233338..179233841,2	Hela-S3	cervix:
33	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
34	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
35	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:
36	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
37	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
2	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
3	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
4	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
5	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
6	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
7	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
8	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627
9	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
10	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629
11	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
12	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630

No data

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
MIR1229	TF binding region
SQSTM1	CpG island
MGAT4B	CpG island
MIR1229	CpG island
ENSG00000169045	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000161010	chromatin interactions

Extended variants
information (count: 657 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12518252	chr5:179227865-179227866	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377567890	chr5:179227867-179227868	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs370476592	chr5:179227869-179227870	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs541664396	chr5:179227874-179227875	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs200351888	chr5:179227875-179227876	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs375847888	chr5:179227894-179227895	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs199693509	chr5:179227895-179227896	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs201676330	chr5:179227925-179227926	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs200706511	chr5:179227933-179227934	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs372403519	chr5:179227970-179227971	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs531082894	chr5:179228011-179228012	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs186120473	chr5:179228016-179228017	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs138066380	chr5:179228018-179228019	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs534728358	chr5:179228033-179228034	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs546836468	chr5:179228041-179228042	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs571601920	chr5:179228049-179228050	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs538813262	chr5:179228050-179228051	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs557239025	chr5:179228081-179228082	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs58773990	chr5:179228150-179228151	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139149018	chr5:179228163-179228164	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs536304417	chr5:179228172-179228173	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs554371497	chr5:179228173-179228174	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs572770331	chr5:179228215-179228216	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs539865107	chr5:179228216-179228217	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs553237794	chr5:179228239-179228240	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs560391392	chr5:179228240-179228241	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs368374701	chr5:179228284-179228285	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs199893028	chr5:179228304-179228305	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs372300816	chr5:179228322-179228323	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs375452661	chr5:179228323-179228324	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs368569979	chr5:179228331-179228332	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs371352091	chr5:179228359-179228360	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs113104761	chr5:179228369-179228370	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs139546285	chr5:179228375-179228376	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs113756550	chr5:179228377-179228378	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs146164857	chr5:179228385-179228386	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs374649586	chr5:179228388-179228389	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs11547066	chr5:179228415-179228416	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149511558	chr5:179228430-179228431	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs139876332	chr5:179228463-179228464	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs201648109	chr5:179228473-179228474	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs528470286	chr5:179228478-179228479	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs369626757	chr5:179228487-179228488	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs190594008	chr5:179228501-179228502	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs375546132	chr5:179228503-179228504	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs370214895	chr5:179228515-179228516	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs79356327	chr5:179228522-179228523	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs532488563	chr5:179228527-179228528	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs375764484	chr5:179228545-179228546	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs370035383	chr5:179228550-179228551	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	8 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:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179223600-179228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:179223800-179228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:179223800-179229600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179223800-179231600	Weak transcription	Fetal Kidney	kidney
5	chr5:179223800-179231600	Weak transcription	Psoas Muscle	Psoas
6	chr5:179224000-179228200	Strong transcription	Fetal Thymus	thymus
7	chr5:179224000-179228400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr5:179224000-179228400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:179224000-179228600	Strong transcription	Dnd41	blood
10	chr5:179224000-179228800	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:179224000-179229000	Strong transcription	A549	lung
12	chr5:179224000-179229000	Strong transcription	NHLF	lung
13	chr5:179224000-179229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:179224000-179229200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:179224000-179229200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:179224000-179229400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:179224000-179229600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:179224000-179230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:179224000-179230000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:179224000-179230000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:179224000-179230800	Weak transcription	Right Atrium	heart
22	chr5:179224000-179232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:179224200-179228000	Strong transcription	Brain Anterior Caudate	brain
24	chr5:179224200-179228200	Strong transcription	Colon Smooth Muscle	Colon
25	chr5:179224200-179228400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:179224200-179228400	Strong transcription	Brain Hippocampus Middle	brain
27	chr5:179224200-179228400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:179224200-179228400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:179224200-179228600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:179224200-179228600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:179224200-179228600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr5:179224200-179228600	Strong transcription	Fetal Brain Female	brain
33	chr5:179224200-179228800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:179224200-179228800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:179224200-179228800	Strong transcription	Fetal Intestine Small	intestine
36	chr5:179224200-179228800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:179224200-179229000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:179224200-179229000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:179224200-179229000	Weak transcription	GM12878-XiMat	blood
40	chr5:179224200-179229600	Weak transcription	NH-A	brain
41	chr5:179224200-179230000	Strong transcription	Brain Germinal Matrix	brain
42	chr5:179224400-179228000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:179224400-179228000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:179224400-179228000	Strong transcription	Aorta	Aorta
45	chr5:179224400-179228200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:179224400-179228200	Strong transcription	NHEK	skin
47	chr5:179224400-179228400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179224400-179228400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:179224400-179228400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:179224400-179228400	Strong transcription	Placenta	Placenta

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