Variant report

Variant	nsv1005816
Chromosome Location	chr4:95573444-95902704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2034)
CpG islands
(count:1159)
Chromatin interactive
region (count:114)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:2034 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:95574257-95574689	K562	blood:	n/a	n/a
2	ARID3A	chr4:95818222-95818591	HepG2	liver:	n/a	n/a
3	ATF1	chr4:95748911-95749222	K562	blood:	n/a	n/a
4	ATF3	chr4:95575069-95575496	A549	lung:	n/a	n/a
5	ATF3	chr4:95611913-95612579	A549	lung:	n/a	n/a
6	ATF3	chr4:95611848-95612576	A549	lung:	n/a	n/a
7	ATF3	chr4:95748891-95749348	HCT-116	colon:	n/a	n/a
8	ATF3	chr4:95591300-95591898	A549	lung:	n/a	n/a
9	ATF3	chr4:95586878-95587595	A549	lung:	n/a	n/a
10	ATF3	chr4:95591344-95591926	A549	lung:	n/a	n/a
11	ATF3	chr4:95586741-95587663	A549	lung:	n/a	n/a
12	BACH1	chr4:95574080-95574193	K562	blood:	n/a	n/a
13	BACH1	chr4:95818195-95818422	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:95679125-95679401	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr4:95581798-95582062	GM12878	blood:	n/a	n/a
16	BCL3	chr4:95574985-95575701	A549	lung:	n/a	n/a
17	BCL3	chr4:95611587-95612595	A549	lung:	n/a	n/a
18	BCL3	chr4:95586739-95587676	A549	lung:	n/a	n/a
19	BCL3	chr4:95575732-95576272	A549	lung:	n/a	n/a
20	BCL3	chr4:95575141-95575612	A549	lung:	n/a	n/a
21	BCL3	chr4:95611824-95612517	A549	lung:	n/a	n/a
22	BCL3	chr4:95589771-95592149	A549	lung:	n/a	n/a
23	BCL3	chr4:95591378-95591954	A549	lung:	n/a	n/a
24	BCL3	chr4:95586560-95587924	A549	lung:	n/a	n/a
25	BHLHE40	chr4:95749032-95749232	HepG2	liver:	n/a	n/a
26	BHLHE40	chr4:95855450-95855709	A549	lung:	n/a	chr4:95855547-95855568
27	BHLHE40	chr4:95818273-95818472	K562	blood:	n/a	n/a
28	BHLHE40	chr4:95748967-95749350	K562	blood:	n/a	n/a
29	BRCA1	chr4:95748881-95749292	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr4:95748762-95749323	HCT-116	colon:	n/a	n/a
31	CBX3	chr4:95748786-95749286	HCT-116	colon:	n/a	n/a
32	CCNT2	chr4:95574128-95574666	K562	blood:	n/a	n/a
33	CEBPB	chr4:95673911-95674176	Hela-S3	cervix:	n/a	chr4:95674019-95674030
34	CEBPB	chr4:95673863-95674189	A549	lung:	n/a	chr4:95674019-95674030
35	CEBPB	chr4:95617616-95617667	HepG2	liver:	n/a	chr4:95617654-95617665
36	CEBPB	chr4:95582263-95582441	IMR90	lung:	n/a	n/a
37	CEBPB	chr4:95680820-95681102	HepG2	liver:	n/a	chr4:95680962-95680973 chr4:95680962-95680975 chr4:95680964-95680973 chr4:95680963-95680974 chr4:95680964-95680973 chr4:95680964-95680973 chr4:95680964-95680973
38	CEBPB	chr4:95816279-95816586	IMR90	lung:	n/a	n/a
39	CEBPB	chr4:95587173-95587472	MCF-7	breast:	n/a	n/a
40	CEBPB	chr4:95896021-95896221	IMR90	lung:	n/a	n/a
41	CEBPB	chr4:95799089-95799593	A549	lung:	n/a	n/a
42	CEBPB	chr4:95891809-95892222	MCF-7	breast:	n/a	chr4:95891963-95891974
43	CEBPB	chr4:95611868-95612443	A549	lung:	n/a	n/a
44	CEBPB	chr4:95617582-95617811	A549	lung:	n/a	chr4:95617654-95617665
45	CEBPB	chr4:95619536-95619587	A549	lung:	n/a	n/a
46	CEBPB	chr4:95673845-95674199	HepG2	liver:	n/a	chr4:95674019-95674030
47	CEBPB	chr4:95891808-95892198	A549	lung:	n/a	chr4:95891963-95891974
48	CEBPB	chr4:95736366-95736410	A549	lung:	n/a	n/a
49	CEBPB	chr4:95711603-95711858	Hela-S3	cervix:	n/a	chr4:95711733-95711744 chr4:95711732-95711745
50	CEBPB	chr4:95611932-95612416	MCF-7	breast:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:95679808-95679858	Caco-2	colon:	n/a
2	chr4:95678817-95678867	HCT-116	colon:	n/a
3	chr4:95678918-95678968	HRPEpiC	eye:	n/a
4	chr4:95679808-95679858	T-47D	breast:	n/a
5	chr4:95799256-95799306	U87	brain:	n/a
6	chr4:95680414-95680464	SAEC	small airway:	n/a
7	chr4:95818408-95818458	NHBE	bronchial:	n/a
8	chr4:95680102-95680152	HepG2	liver:	n/a
9	chr4:95678703-95678753	GM12878	blood:	n/a
10	chr4:95762633-95762683	HUVEC	blood vessel:	n/a
11	chr4:95679808-95679858	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:95678939-95678989	HNPCEpiC	eye:	n/a
13	chr4:95683604-95683654	NH-A	brain:	n/a
14	chr4:95792158-95792208	HCF	heart:	n/a
15	chr4:95679381-95679431	HL-60	blood:	n/a
16	chr4:95762633-95762683	BE2_C	brain:	n/a
17	chr4:95680102-95680152	HRE	kidney:	n/a
18	chr4:95818408-95818458	U87	brain:	n/a
19	chr4:95679808-95679858	H1-hESC	embryonic stem cell:	embryo
20	chr4:95678703-95678753	PrEC	prostate:	n/a
21	chr4:95680414-95680464	AG10803	skin:	n/a
22	chr4:95762633-95762683	BJ	skin:	n/a
23	chr4:95818408-95818458	PrEC	prostate:	n/a
24	chr4:95818408-95818458	BE2_C	brain:	n/a
25	chr4:95680102-95680152	NT2-D1	testis:	n/a
26	chr4:95818408-95818458	HEEpiC	esophagus:	n/a
27	chr4:95679808-95679858	PrEC	prostate:	n/a
28	chr4:95678898-95678948	AoSMC	blood vessel:	n/a
29	chr4:95680102-95680152	HCT-116	colon:	n/a
30	chr4:95679808-95679858	LNCaP	prostate:	n/a
31	chr4:95678918-95678968	HUVEC	blood vessel:	n/a
32	chr4:95683604-95683654	HRPEpiC	eye:	n/a
33	chr4:95678898-95678948	NHBE	bronchial:	n/a
34	chr4:95678939-95678989	BJ	skin:	n/a
35	chr4:95816391-95816441	GM12878	blood:	n/a
36	chr4:95792158-95792208	GM12878	blood:	n/a
37	chr4:95679705-95679755	GM06990	blood:	n/a
38	chr4:95816391-95816441	SAEC	small airway:	n/a
39	chr4:95587592-95587642	NB4	blood:	n/a
40	chr4:95816391-95816441	T-47D	breast:	n/a
41	chr4:95587592-95587642	HCT-116	colon:	n/a
42	chr4:95678918-95678968	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:95683604-95683654	Hepatocyte	liver:	n/a
44	chr4:95799256-95799306	Jurkat	blood:	n/a
45	chr4:95680102-95680152	HCF	heart:	n/a
46	chr4:95792158-95792208	Hepatocyte	liver:	n/a
47	chr4:95676253-95676303	AG04449	skin:	fetal
48	chr4:95679381-95679431	GM12878	blood:	n/a
49	chr4:95683604-95683654	HEEpiC	esophagus:	n/a
50	chr4:95678898-95678948	PrEC	prostate:	n/a

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:95828080..95830968-chr4:95838059..95840958,2	MCF-7	breast:
2	chr4:95576960..95578807-chr4:95581385..95584282,2	K562	blood:
3	chr4:95795009..95797987-chr4:95807985..95810628,2	K562	blood:
4	chr4:95586812..95588738-chr4:95612265..95614462,2	MCF-7	breast:
5	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
6	chr4:95678457..95680699-chr4:95808696..95811437,2	MCF-7	breast:
7	chr4:95763140..95765026-chr4:95770756..95772869,2	MCF-7	breast:
8	chr4:95894975..95897109-chr4:95919263..95921019,2	K562	blood:
9	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
10	chr4:95783841..95786067-chr4:95832371..95835090,2	K562	blood:
11	chr4:95773359..95774309-chr6:47507464..47508000,2	MCF-7	breast:
12	chr4:95605387..95607025-chr4:95609535..95612445,2	K562	blood:
13	chr4:95582862..95585353-chr4:95588857..95590982,2	K562	blood:
14	chr4:95587418..95589202-chr4:95610203..95611805,2	MCF-7	breast:
15	chr4:95542351..95543272-chr4:95611621..95612326,2	MCF-7	breast:
16	chr4:95674754..95677008-chr4:95678687..95680473,3	MCF-7	breast:
17	chr4:95605555..95610627-chr4:95610718..95614763,6	MCF-7	breast:
18	chr4:95877704..95879988-chr4:95889895..95892478,2	K562	blood:
19	chr4:95612480..95615241-chr4:95616848..95618787,2	MCF-7	breast:
20	chr4:95848217..95850324-chr4:95853544..95856534,2	MCF-7	breast:
21	chr4:95667841..95668506-chr4:95813087..95813807,2	MCF-7	breast:
22	chr4:95823535..95826379-chr4:95835891..95838030,4	MCF-7	breast:
23	chr4:95877704..95879988-chr4:95889895..95892478,2	K562	blood:
24	chr4:95568169..95569677-chr4:95571228..95573949,2	K562	blood:
25	chr4:95569249..95571997-chr4:95572329..95574051,2	MCF-7	breast:
26	chr4:95622661..95624904-chr4:95630540..95633501,3	MCF-7	breast:
27	chr4:95783841..95786067-chr4:95832371..95835090,2	K562	blood:
28	chr4:95591301..95592059-chr4:95611866..95612408,2	MCF-7	breast:
29	chr4:95592542..95594802-chr4:95595610..95598879,3	MCF-7	breast:
30	chr4:95810479..95814160-chr4:95814675..95817418,3	K562	blood:
31	chr4:95128690..95131586-chr4:95622280..95624398,2	K562	blood:
32	chr4:95664983..95667427-chr4:95675236..95677309,2	MCF-7	breast:
33	chr4:95689034..95690776-chr4:95698593..95701068,2	K562	blood:
34	chr4:95848217..95850324-chr4:95853544..95856534,2	MCF-7	breast:
35	chr4:95743025..95745346-chr4:95749976..95751572,2	MCF-7	breast:
36	chr4:95679187..95680719-chr4:95971290..95974263,2	MCF-7	breast:
37	chr4:95663683..95666407-chr4:95667790..95669730,2	MCF-7	breast:
38	chr4:95681741..95684517-chr4:95685479..95688614,3	K562	blood:
39	chr4:95612480..95615241-chr4:95616848..95618787,2	MCF-7	breast:
40	chr4:95788237..95790054-chr4:95797939..95799510,2	MCF-7	breast:
41	chr4:95828080..95830968-chr4:95838059..95840958,2	MCF-7	breast:
42	chr4:95542429..95543413-chr4:95652714..95653349,2	K562	blood:
43	chr4:95586812..95588738-chr4:95612265..95614462,2	MCF-7	breast:
44	chr4:95581174..95583133-chr4:95584760..95587422,2	K562	blood:
45	chr4:95664983..95667427-chr4:95675236..95677309,2	MCF-7	breast:
46	chr4:95605387..95607025-chr4:95609535..95612445,2	K562	blood:
47	chr4:95821022..95823696-chr4:95823793..95825387,2	MCF-7	breast:
48	chr4:95795009..95797987-chr4:95807985..95810628,2	K562	blood:
49	chr4:95372188..95374867-chr4:95685778..95688494,2	K562	blood:
50	chr4:95679939..95682877-chr4:95683215..95684845,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-1	chr4:95678545-95679036	NONHSAT097457
2	lnc-PDLIM5-1	chr4:95596396-95596489	XLOC_003611
3	lnc-UNC5C-1	chr4:95678545-95679011	XLOC_004019
4	lnc-UNC5C-1	chr4:95675981-95676056	NONHSAT097457
5	lnc-UNC5C-3	chr4:95883856-95884268	l_2688_chr4:95883855-95898073_testes
6	lnc-UNC5C-1	chr4:95664951-95665245	XLOC_004019
7	lnc-UNC5C-1	chr4:95678545-95678684	XLOC_004019
8	lnc-UNC5C-1	chr4:95675981-95676056	XLOC_004019
9	lnc-UNC5C-1	chr4:95675981-95676056	XLOC_004019
10	lnc-UNC5C-3	chr4:95895004-95895079	l_2688_chr4:95883855-95898073_testes
11	lnc-UNC5C-3	chr4:95897568-95898073	l_2688_chr4:95883855-95898073_testes
12	lnc-UNC5C-1	chr4:95668938-95668975	XLOC_004019
13	lnc-PDLIM5-1	chr4:95623601-95623721	XLOC_003611
14	lnc-UNC5C-1	chr4:95664915-95665245	NONHSAT097457

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PDLIM5	hsa-miR-17-5p	chr4:95588118-95588142
2	PDLIM5	hsa-miR-155-5p	chr4:95588897-95588918
3	PDLIM5	hsa-miR-17-5p	chr4:95588135-95588142
4	PDLIM5	hsa-miR-155-5p	chr4:95588609-95588631
5	PDLIM5	hsa-miR-16-5p	chr4:95587579-95587602

Variant related genes	Relation type
ENSG00000249599	TF binding region
ENSG00000249951	TF binding region
BMPR1B	TF binding region
ENSG00000249599	CpG island
ENSG00000249951	CpG island
BMPR1B	CpG island
ENSG00000246541	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000249599	chromatin interactions
ENSG00000249951	chromatin interactions
ENSG00000163110	chromatin interactions
ENSG00000163104	chromatin interactions
ENSG00000138696	chromatin interactions
KIF2A	miRNA target sites

Extended variants
information (count: 11919 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:11919 , 50 per page) page: 1 2 3 4 5 6 7 ... 239

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192965814	chr4:95573497-95573498	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72880450	chr4:95573503-95573504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570107896	chr4:95573531-95573532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562786153	chr4:95573552-95573553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534059362	chr4:95573567-95573568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547646534	chr4:95573591-95573592	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567444756	chr4:95573614-95573615	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543935982	chr4:95573710-95573711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371020503	chr4:95573711-95573712	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555787833	chr4:95573727-95573728	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185132006	chr4:95573746-95573747	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528566017	chr4:95573751-95573752	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537814930	chr4:95573770-95573771	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557706553	chr4:95573777-95573778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188060488	chr4:95573778-95573779	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12511111	chr4:95573804-95573805	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560566828	chr4:95573806-95573807	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143739697	chr4:95573835-95573836	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192816431	chr4:95573839-95573840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183655762	chr4:95573942-95573943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115229563	chr4:95573948-95573949	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188325908	chr4:95573960-95573961	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80242129	chr4:95573982-95573983	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12511169	chr4:95573998-95573999	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547711245	chr4:95574029-95574030	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537660948	chr4:95574109-95574110	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7689746	chr4:95574123-95574124	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs115886561	chr4:95574155-95574156	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569359386	chr4:95574181-95574182	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs13110828	chr4:95574211-95574212	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140344720	chr4:95574272-95574273	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571302433	chr4:95574317-95574318	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534224769	chr4:95574326-95574327	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs144283318	chr4:95574342-95574343	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574167065	chr4:95574356-95574357	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs147387206	chr4:95574382-95574383	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs180835377	chr4:95574419-95574420	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76398421	chr4:95574500-95574501	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556379111	chr4:95574555-95574556	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545116223	chr4:95574596-95574597	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564921555	chr4:95574682-95574683	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs11445839	chr4:95574708-95574709	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs397815357	chr4:95574710-95574711	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527240705	chr4:95574713-95574714	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541344914	chr4:95574735-95574736	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs116771440	chr4:95574767-95574768	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184803189	chr4:95574824-95574825	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114823117	chr4:95574847-95574848	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148432837	chr4:95574919-95574920	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369399838	chr4:95574929-95574930	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1994 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:95525000-95590000	Weak transcription	Lung	lung
4	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
5	chr4:95533800-95594200	Weak transcription	Gastric	stomach
6	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
7	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
8	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
9	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:95541400-95580200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:95543000-95586000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:95543000-95586400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:95549000-95586600	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:95555200-95578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:95555200-95581800	Weak transcription	Ovary	ovary
20	chr4:95557200-95588600	Weak transcription	GM12878-XiMat	blood
21	chr4:95557400-95583800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:95557800-95586200	Weak transcription	Thymus	Thymus
23	chr4:95558200-95580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:95559000-95590200	Weak transcription	Right Ventricle	heart
25	chr4:95559600-95578200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:95561400-95585200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:95561600-95580200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:95562600-95578200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:95563200-95584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:95563600-95578200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:95563600-95578400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:95563600-95583400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:95563600-95589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:95563800-95574200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:95563800-95579400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:95563800-95583400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:95563800-95583400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:95564000-95573600	Weak transcription	K562	blood
39	chr4:95564000-95578400	Weak transcription	NHEK	skin
40	chr4:95564000-95581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:95564000-95587000	Weak transcription	NHLF	lung
42	chr4:95564000-95595000	Weak transcription	NHDF-Ad	bronchial
43	chr4:95567800-95582200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:95567800-95587400	Weak transcription	HepG2	liver
45	chr4:95568200-95575200	Weak transcription	Adipose Nuclei	Adipose
46	chr4:95568200-95578200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:95568400-95575600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:95568400-95578200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:95568400-95578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:95569800-95574000	Enhancers	Fetal Heart	heart

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