Variant report

Variant	nsv818207
Chromosome Location	chr4:753944-821490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2999)
CpG islands
(count:5125)
Chromatin interactive
region (count:113)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:2999 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:781010-781170	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:775535-776467	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:775600-775922	K562	blood:	n/a	n/a
4	ARID3A	chr4:809427-810025	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:769973-770152	K562	blood:	n/a	n/a
6	ARID3A	chr4:760860-760862	K562	blood:	n/a	n/a
7	ATF1	chr4:775504-776339	K562	blood:	n/a	n/a
8	ATF2	chr4:775447-776273	GM12878	blood:	n/a	n/a
9	ATF2	chr4:759447-760137	GM12878	blood:	n/a	n/a
10	ATF2	chr4:786528-787053	GM12878	blood:	n/a	n/a
11	ATF2	chr4:775353-775715	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr4:775425-775889	H1-hESC	embryonic stem cell:	n/a	chr4:775490-775499
13	ATF3	chr4:775512-775806	K562	blood:	n/a	n/a
14	ATF3	chr4:775410-775799	GM12878	blood:	n/a	chr4:775490-775499
15	ATF3	chr4:775486-775838	HepG2	liver:	n/a	chr4:775490-775499
16	ATF3	chr4:775439-775796	H1-hESC	embryonic stem cell:	n/a	chr4:775490-775499
17	ATF3	chr4:775577-775726	GM12878	blood:	n/a	n/a
18	ATF3	chr4:775419-775827	K562	blood:	n/a	chr4:775490-775499
19	BACH1	chr4:780101-780308	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:778748-779581	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:785862-786172	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:761416-761472	K562	blood:	n/a	n/a
23	BACH1	chr4:819446-819522	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr4:792790-793093	GM12878	blood:	n/a	chr4:792952-792963
25	BATF	chr4:786605-786910	GM12878	blood:	n/a	n/a
26	BATF	chr4:792834-793093	GM12878	blood:	n/a	chr4:792952-792963
27	BCL3	chr4:762790-763108	K562	blood:	n/a	n/a
28	BCL3	chr4:759559-760269	K562	blood:	n/a	n/a
29	BCL3	chr4:758150-758705	K562	blood:	n/a	n/a
30	BCL3	chr4:775309-775767	A549	lung:	n/a	chr4:775407-775420 chr4:775404-775417
31	BCL3	chr4:756201-756863	K562	blood:	n/a	n/a
32	BCL3	chr4:759736-760276	GM12878	blood:	n/a	n/a
33	BCL3	chr4:763838-764241	GM12878	blood:	n/a	n/a
34	BCL3	chr4:760345-760687	K562	blood:	n/a	n/a
35	BCL3	chr4:761819-762077	K562	blood:	n/a	n/a
36	BCL3	chr4:759606-761163	A549	lung:	n/a	n/a
37	BCL3	chr4:758070-758758	GM12878	blood:	n/a	n/a
38	BCL3	chr4:758290-758977	A549	lung:	n/a	n/a
39	BCL3	chr4:757355-757668	K562	blood:	n/a	n/a
40	BCL3	chr4:756988-758216	A549	lung:	n/a	n/a
41	BCL3	chr4:759168-759730	GM12878	blood:	n/a	n/a
42	BCL3	chr4:756062-756632	A549	lung:	n/a	n/a
43	BCL3	chr4:758354-759038	A549	lung:	n/a	n/a
44	BCL3	chr4:757673-758048	GM12878	blood:	n/a	n/a
45	BCL3	chr4:760819-761119	K562	blood:	n/a	n/a
46	BCL3	chr4:759098-759533	A549	lung:	n/a	n/a
47	BCL3	chr4:763730-764203	GM12878	blood:	n/a	n/a
48	BCLAF1	chr4:786495-787047	GM12878	blood:	n/a	n/a
49	BCLAF1	chr4:775320-775961	GM12878	blood:	n/a	chr4:775407-775420 chr4:775404-775417
50	BHLHE40	chr4:758377-758462	K562	blood:	n/a	n/a

(count:5125 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:768696-768746	ECC-1	luminal epithelium:	n/a
2	chr4:768696-768746	ECC-1	luminal epithelium:	n/a
3	chr4:812611-812661	GM12892	blood:	n/a
4	chr4:755143-755193	MCF10A-Er-Src	breast:	n/a
5	chr4:772465-772515	RPTEC	kidney:	n/a
6	chr4:780591-780641	PANC-1	pancreas:	n/a
7	chr4:778336-778386	ovcar-3	ovarian:	n/a
8	chr4:768644-768694	GM12891	blood:	n/a
9	chr4:812611-812661	U87	brain:	n/a
10	chr4:754733-754783	K562	blood:	n/a
11	chr4:754733-754783	ProgFib	skin:	n/a
12	chr4:820619-820669	SK-N-MC	brain:	n/a
13	chr4:785696-785746	Hepatocyte	liver:	n/a
14	chr4:817492-817542	HAEpiC	amniotic membrane:	n/a
15	chr4:803014-803064	A549	lung:	n/a
16	chr4:778827-778877	HRPEpiC	eye:	n/a
17	chr4:775219-775269	U87	brain:	n/a
18	chr4:785160-785210	ECC-1	luminal epithelium:	n/a
19	chr4:817492-817542	HCM	heart:	n/a
20	chr4:778827-778877	NHBE	bronchial:	n/a
21	chr4:820756-820806	GM19239	blood:	n/a
22	chr4:798611-798661	NT2-D1	testis:	n/a
23	chr4:815098-815148	GM12892	blood:	n/a
24	chr4:789505-789555	BJ	skin:	n/a
25	chr4:819927-819977	HRCEpiC	kidney:	n/a
26	chr4:788140-788190	NH-A	brain:	n/a
27	chr4:775700-775750	CMK	blood:	n/a
28	chr4:789505-789555	RPTEC	kidney:	n/a
29	chr4:812499-812549	HEK293	kidney:	embryo
30	chr4:817492-817542	BE2_C	brain:	n/a
31	chr4:780856-780906	ECC-1	luminal epithelium:	n/a
32	chr4:753903-753953	NB4	blood:	n/a
33	chr4:784961-785011	AG09319	gingival:	n/a
34	chr4:780856-780906	AG09319	gingival:	n/a
35	chr4:809452-809502	HCF	heart:	n/a
36	chr4:788140-788190	GM19239	blood:	n/a
37	chr4:754410-754460	BE2_C	brain:	n/a
38	chr4:754410-754460	CMK	blood:	n/a
39	chr4:760039-760089	GM06990	blood:	n/a
40	chr4:816935-816985	NH-A	brain:	n/a
41	chr4:779568-779618	HAEpiC	amniotic membrane:	n/a
42	chr4:789505-789555	NHBE	bronchial:	n/a
43	chr4:754733-754783	U87	brain:	n/a
44	chr4:768696-768746	HCM	heart:	n/a
45	chr4:763508-763558	HCPEpiC	choroid plexus:	n/a
46	chr4:753903-753953	ECC-1	luminal epithelium:	n/a
47	chr4:815269-815319	HRE	kidney:	n/a
48	chr4:763393-763443	AG04450	lung:	fetal
49	chr4:783597-783647	GM12892	blood:	n/a
50	chr4:812499-812549	AG09319	gingival:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:755074..756694-chr4:1019394..1021840,2	K562	blood:
2	chr4:593904..597020-chr4:753917..757326,3	MCF-7	breast:
3	chr4:809375..810958-chr4:813347..815488,2	MCF-7	breast:
4	chr4:775742..777793-chr4:821294..823838,2	MCF-7	breast:
5	chr4:773213..775149-chr4:920055..922373,2	K562	blood:
6	chr4:779184..781836-chr4:815756..818416,2	MCF-7	breast:
7	chr4:813190..814907-chr4:985263..987918,2	MCF-7	breast:
8	chr4:802679..805389-chr4:828625..831551,2	K562	blood:
9	chr4:783386..786310-chr4:800890..802514,2	K562	blood:
10	chr4:758084..763800-chr4:770671..778725,12	MCF-7	breast:
11	chr4:815070..817280-chr4:1004466..1007388,2	K562	blood:
12	chr4:782165..784382-chr4:833187..836148,2	MCF-7	breast:
13	chr4:666788..669425-chr4:753705..755956,2	K562	blood:
14	chr4:749591..753567-chr4:753955..757140,4	MCF-7	breast:
15	chr4:679737..681440-chr4:774148..776582,2	K562	blood:
16	chr4:773678..778564-chr4:818343..821273,5	K562	blood:
17	chr4:754637..757120-chr4:925087..927511,3	MCF-7	breast:
18	chr4:741902..744115-chr4:754225..756300,2	MCF-7	breast:
19	chr4:782759..784380-chr4:786772..789323,2	K562	blood:
20	chr4:820499..822225-chr4:975841..977924,2	K562	blood:
21	chr4:807835..809615-chr4:815681..817345,2	MCF-7	breast:
22	chr4:759810..762809-chr4:1002584..1005442,2	MCF-7	breast:
23	chr4:761155..763075-chr4:828967..831946,2	K562	blood:
24	chr4:800740..802863-chr4:815216..816948,2	K562	blood:
25	chr4:776936..779756-chr4:805592..808402,2	MCF-7	breast:
26	chr4:796709..798634-chr4:802250..803920,2	MCF-7	breast:
27	chr4:808238..810309-chr4:818113..820834,2	MCF-7	breast:
28	chr4:775968..777707-chr4:794357..796914,2	MCF-7	breast:
29	chr4:734991..736577-chr4:768033..771031,2	K562	blood:
30	chr4:816506..819302-chr4:925651..929828,3	K562	blood:
31	chr4:801291..803192-chr4:806051..807606,2	MCF-7	breast:
32	chr4:743968..746769-chr4:761390..763211,2	MCF-7	breast:
33	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
34	chr4:782997..785390-chr4:814047..817037,2	K562	blood:
35	chr4:775742..777793-chr4:821294..823838,2	MCF-7	breast:
36	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
37	chr4:796709..798634-chr4:802250..803920,2	MCF-7	breast:
38	chr4:773945..775474-chr4:795137..797373,2	MCF-7	breast:
39	chr4:774211..776951-chr4:981590..984228,3	MCF-7	breast:
40	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
41	chr4:775138..775736-chr9:115095469..115096084,2	NB4	blood:
42	chr4:774518..776312-chr4:2935741..2938166,2	MCF-7	breast:
43	chr4:807624..808191-chr4:885316..885983,2	MCF-7	breast:
44	chr4:735724..738302-chr4:774438..777111,2	MCF-7	breast:
45	chr4:677843..680231-chr4:776162..778383,2	MCF-7	breast:
46	chr4:784819..786637-chr4:786722..788557,2	K562	blood:
47	chr4:784755..787732-chr4:979538..982069,4	MCF-7	breast:
48	chr4:783386..786310-chr4:800890..802514,2	K562	blood:
49	chr4:800740..802863-chr4:815216..816948,2	K562	blood:
50	chr4:773945..775474-chr4:795137..797373,2	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPLX1-2	chr4:775560-775637	ENSG00000249592.1
2	lnc-CPLX1-2	chr4:755337-756528	NONHSAT094610
3	lnc-CPLX1-2	chr4:773937-774476	ENSG00000249592.1
4	lnc-PCGF3-1	chr4:781030-781654	NONHSAT094620
5	lnc-CPLX1-2	chr4:775560-775598	NONHSAT094610
6	lnc-CPLX1-3	chr4:758275-758397	ENSG00000233799.1
7	lnc-CPLX1-2	chr4:760929-761403	ENSG00000249592.1
8	lnc-PCGF3-1	chr4:781737-781878	NONHSAT094620
9	lnc-CPLX1-2	chr4:775560-775637	ENSG00000249592.1
10	lnc-CPLX1-3	chr4:758700-758862	ENSG00000233799.1
11	lnc-PCGF3-2	chr4:790009-790444	NONHSAT094622
12	lnc-CPLX1-2	chr4:773937-774476	NR_036512
13	lnc-PCGF3-2	chr4:789578-789894	NONHSAT094622
14	lnc-CPLX1-2	chr4:774034-774505	ENSG00000249592.1
15	lnc-CPLX1-2	chr4:756175-756627	ENSG00000249592.1
16	lnc-CPLX1-2	chr4:775560-775618	ENSG00000249592.1
17	lnc-CPLX1-4	chr4:753969-754335	predAs_ge08_PCGF3_2
18	lnc-CPLX1-2	chr4:775560-775637	ENSG00000249592.1
19	lnc-PCGF3-1	chr4:781751-781818	NONHSAT094621
20	lnc-CPLX1-2	chr4:775560-775636	NR_036512
21	lnc-PCGF3-1	chr4:781131-781654	NONHSAT094621

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PCGF3	hsa-let-7b-5p	chr4:761646-761653
2	PCGF3	hsa-let-7d-5p	chr4:761631-761653
3	PCGF3	hsa-let-7d-5p	chr4:761646-761653
4	PCGF3	hsa-let-7b-5p	chr4:761631-761653
5	PCGF3	hsa-let-7c-5p	chr4:761646-761653
6	PCGF3	hsa-let-7c-5p	chr4:761631-761653

Variant related genes	Relation type
ENSG00000249592	TF binding region
ENSG00000272588	TF binding region
CPLX1	TF binding region
ENSG00000233799	TF binding region
ENSG00000249592	CpG island
ENSG00000272588	CpG island
CPLX1	CpG island
ENSG00000233799	CpG island
ENSG00000109736	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000260262	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000173535	chromatin interactions
ENSG00000119314	chromatin interactions
ENSG00000169020	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000169026	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000166289	chromatin interactions
ENSG00000125458	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000147416	chromatin interactions
ENSG00000272588	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000215375	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000145214	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000168993	chromatin interactions
ENSG00000145217	chromatin interactions

Extended variants
information (count: 3527 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3527 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4690281	chr4:753944-753945	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532741907	chr4:753977-753978	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs551247806	chr4:753985-753986	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs562779914	chr4:753988-753989	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs530086132	chr4:753989-753990	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs181346915	chr4:753999-754000	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs6857306	chr4:754000-754001	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548184335	chr4:754026-754027	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs75163175	chr4:754049-754050	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs552351907	chr4:754156-754157	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs71166831	chr4:754163-754164	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs397805630	chr4:754172-754173	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs200017921	chr4:754173-754174	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs139019156	chr4:754218-754219	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs201748476	chr4:754220-754221	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs530937466	chr4:754262-754263	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs537789551	chr4:754321-754322	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs139907658	chr4:754359-754360	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs184985704	chr4:754360-754361	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34124555	chr4:754385-754386	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs73222807	chr4:754401-754402	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553466360	chr4:754406-754407	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372866717	chr4:754409-754410	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375737007	chr4:754428-754429	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556094559	chr4:754429-754430	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs545490546	chr4:754435-754436	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78376528	chr4:754445-754446	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538486473	chr4:754481-754482	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs4690282	chr4:754484-754485	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs376460703	chr4:754504-754505	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188278436	chr4:754505-754506	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530059636	chr4:754516-754517	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373952427	chr4:754525-754526	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs146203327	chr4:754526-754527	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs560569423	chr4:754527-754528	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527831613	chr4:754530-754531	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs371967148	chr4:754548-754549	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs180957277	chr4:754567-754568	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570587960	chr4:754605-754606	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs576151624	chr4:754626-754627	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs139119064	chr4:754627-754628	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs187001721	chr4:754633-754634	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201056428	chr4:754634-754635	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs554626470	chr4:754652-754653	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs375369571	chr4:754659-754660	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs568311041	chr4:754671-754672	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs75811058	chr4:754675-754676	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs553399133	chr4:754679-754680	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs565327515	chr4:754694-754695	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs543526279	chr4:754696-754697	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2970 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
6	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:742600-754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:742800-754200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
12	chr4:742800-764000	Weak transcription	Small Intestine	intestine
13	chr4:744200-754800	Weak transcription	NHEK	skin
14	chr4:744400-763400	Weak transcription	Right Atrium	heart
15	chr4:744600-754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:745400-754800	Weak transcription	NHDF-Ad	bronchial
17	chr4:746000-754400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
19	chr4:746200-754400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:747000-754400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:747200-754400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
25	chr4:749000-754000	Weak transcription	Primary B cells from cord blood	blood
26	chr4:749000-754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:749000-754400	Weak transcription	Right Ventricle	heart
28	chr4:749000-754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:749200-754000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:749200-754400	Weak transcription	Left Ventricle	heart
31	chr4:749400-754000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:749400-754200	Weak transcription	Gastric	stomach
33	chr4:749400-754200	Weak transcription	Ovary	ovary
34	chr4:749400-754200	Weak transcription	NHLF	lung
35	chr4:749400-754400	Weak transcription	Esophagus	oesophagus
36	chr4:749400-754400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:749400-754400	Weak transcription	Spleen	Spleen
38	chr4:749400-754600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:749400-755800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:749600-754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:749600-754000	Weak transcription	HSMMtube	muscle
42	chr4:749600-754400	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:749600-754400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:749600-754800	Weak transcription	NH-A	brain
45	chr4:750200-754400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:751200-754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:751400-754000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:751400-754000	Weak transcription	Fetal Brain Female	brain
49	chr4:751400-754400	Weak transcription	HMEC	breast
50	chr4:751600-754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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