Variant report

Variant	nsv5628
Chromosome Location	chr7:6105462-6147148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2059)
CpG islands
(count:1526)
Chromatin interactive
region (count:105)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2059 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6121225-6121696	K562	blood:	n/a	n/a
2	ARID3A	chr7:6132523-6132819	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:6120514-6121572	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:6144216-6144499	K562	blood:	n/a	n/a
5	ARID3A	chr7:6142661-6142946	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:6116652-6117359	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:6120509-6120903	K562	blood:	n/a	n/a
8	ARID3A	chr7:6144020-6144574	HepG2	liver:	n/a	n/a
9	ATF1	chr7:6144054-6144615	K562	blood:	n/a	n/a
10	ATF2	chr7:6111022-6111452	GM12878	blood:	n/a	n/a
11	ATF2	chr7:6120454-6121069	GM12878	blood:	n/a	n/a
12	ATF2	chr7:6143973-6144554	GM12878	blood:	n/a	n/a
13	ATF2	chr7:6143969-6144475	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:6143963-6144389	GM12878	blood:	n/a	n/a
15	ATF3	chr7:6143966-6144624	GM12878	blood:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
16	ATF3	chr7:6144239-6144555	GM12878	blood:	n/a	chr7:6144358-6144369
17	ATF3	chr7:6144173-6144629	HepG2	liver:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
18	ATF3	chr7:6143916-6144364	A549	lung:	n/a	chr7:6144238-6144247
19	ATF3	chr7:6116695-6117284	A549	lung:	n/a	n/a
20	ATF3	chr7:6144119-6144750	K562	blood:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
21	ATF3	chr7:6144003-6144589	A549	lung:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
22	ATF3	chr7:6116680-6117330	A549	lung:	n/a	n/a
23	ATF3	chr7:6116698-6117390	HCT-116	colon:	n/a	n/a
24	ATF3	chr7:6144063-6144497	H1-hESC	embryonic stem cell:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
25	ATF3	chr7:6144175-6144636	H1-hESC	embryonic stem cell:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
26	BACH1	chr7:6120512-6121529	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:6144078-6144449	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr7:6111038-6111374	GM12878	blood:	n/a	n/a
29	BCL11A	chr7:6111069-6111315	GM12878	blood:	n/a	n/a
30	BCL11A	chr7:6110974-6111378	GM12878	blood:	n/a	n/a
31	BCL3	chr7:6143876-6144448	A549	lung:	n/a	chr7:6144233-6144246
32	BCL3	chr7:6120803-6121571	A549	lung:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
33	BCL3	chr7:6116662-6117360	A549	lung:	n/a	n/a
34	BCL3	chr7:6116734-6117336	A549	lung:	n/a	n/a
35	BCLAF1	chr7:6110961-6111409	GM12878	blood:	n/a	n/a
36	BCLAF1	chr7:6143958-6144586	GM12878	blood:	n/a	chr7:6144233-6144246
37	BCLAF1	chr7:6120674-6121538	GM12878	blood:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
38	BCLAF1	chr7:6143976-6144609	GM12878	blood:	n/a	chr7:6144233-6144246
39	BCLAF1	chr7:6120538-6121528	GM12878	blood:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
40	BCLAF1	chr7:6110922-6111315	GM12878	blood:	n/a	n/a
41	BDP1	chr7:6116653-6117281	Hela-S3	cervix:	n/a	n/a
42	BHLHE40	chr7:6144020-6144538	K562	blood:	n/a	n/a
43	BHLHE40	chr7:6144032-6144593	HepG2	liver:	n/a	n/a
44	BHLHE40	chr7:6116766-6117236	HepG2	liver:	n/a	n/a
45	BHLHE40	chr7:6144159-6144652	GM12878	blood:	n/a	n/a
46	BHLHE40	chr7:6146157-6146452	K562	blood:	n/a	n/a
47	BHLHE40	chr7:6120579-6121551	K562	blood:	n/a	chr7:6121193-6121209 chr7:6121025-6121041 chr7:6121201-6121217
48	BHLHE40	chr7:6118237-6118515	K562	blood:	n/a	n/a
49	BHLHE40	chr7:6145264-6146399	HepG2	liver:	n/a	n/a
50	BHLHE40	chr7:6120590-6121533	GM12878	blood:	n/a	chr7:6121193-6121209 chr7:6121025-6121041 chr7:6121201-6121217

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6145105-6145155	NH-A	brain:	n/a
2	chr7:6145105-6145155	NH-A	brain:	n/a
3	chr7:6142285-6142335	HL-60	blood:	n/a
4	chr7:6145168-6145218	GM19239	blood:	n/a
5	chr7:6145114-6145164	SAEC	small airway:	n/a
6	chr7:6145114-6145164	BJ	skin:	n/a
7	chr7:6121397-6121447	MCF-7	breast:	n/a
8	chr7:6144369-6144419	U87	brain:	n/a
9	chr7:6144367-6144417	Jurkat	blood:	n/a
10	chr7:6145309-6145359	MCF-7	breast:	n/a
11	chr7:6144399-6144449	GM12891	blood:	n/a
12	chr7:6144127-6144177	PrEC	prostate:	n/a
13	chr7:6144372-6144422	RPTEC	kidney:	n/a
14	chr7:6144298-6144348	NHDF-neo	bronchial:	n/a
15	chr7:6144127-6144177	HRCEpiC	kidney:	n/a
16	chr7:6120830-6120880	Caco-2	colon:	n/a
17	chr7:6144372-6144422	HL-60	blood:	n/a
18	chr7:6144372-6144422	HCPEpiC	choroid plexus:	n/a
19	chr7:6145057-6145107	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:6145105-6145155	HCM	heart:	n/a
21	chr7:6144367-6144417	HIPEpiC	eye:	n/a
22	chr7:6144367-6144417	HEEpiC	esophagus:	n/a
23	chr7:6144308-6144358	IMR90	lung:	fetal
24	chr7:6121416-6121466	HRE	kidney:	n/a
25	chr7:6144308-6144358	SAEC	small airway:	n/a
26	chr7:6124631-6124681	BE2_C	brain:	n/a
27	chr7:6120396-6120446	IMR90	lung:	fetal
28	chr7:6145105-6145155	AG09309	skin:	n/a
29	chr7:6145105-6145155	AG09319	gingival:	n/a
30	chr7:6144369-6144419	AG10803	skin:	n/a
31	chr7:6144308-6144358	Jurkat	blood:	n/a
32	chr7:6145057-6145107	AG04450	lung:	fetal
33	chr7:6116868-6116918	MCF10A-Er-Src	breast:	n/a
34	chr7:6121416-6121466	NHBE	bronchial:	n/a
35	chr7:6121256-6121306	HUVEC	blood vessel:	n/a
36	chr7:6144399-6144449	NB4	blood:	n/a
37	chr7:6120396-6120446	HMEC	breast:	n/a
38	chr7:6124631-6124681	GM06990	blood:	n/a
39	chr7:6144372-6144422	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:6145595-6145645	HCPEpiC	choroid plexus:	n/a
41	chr7:6144298-6144348	K562	blood:	n/a
42	chr7:6145105-6145155	GM19239	blood:	n/a
43	chr7:6145168-6145218	BE2_C	brain:	n/a
44	chr7:6124631-6124681	PANC-1	pancreas:	n/a
45	chr7:6116868-6116918	HCPEpiC	choroid plexus:	n/a
46	chr7:6121397-6121447	HEK293	kidney:	embryo
47	chr7:6144372-6144422	MCF-7	breast:	n/a
48	chr7:6145168-6145218	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:6121256-6121306	Hepatocyte	liver:	n/a
50	chr7:6121093-6121143	HEEpiC	esophagus:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:17516059..17516719-chr7:6143769..6144365,2	NB4	blood:
2	chr7:6097654..6100113-chr7:6110682..6112389,2	K562	blood:
3	chr7:6098536..6099058-chr7:6120395..6121392,2	Hela-S3	cervix:
4	chr7:6100780..6103168-chr7:6105992..6108642,2	MCF-7	breast:
5	chr7:6111381..6113689-chr7:6120033..6122213,3	K562	blood:
6	chr7:6140101..6142777-chr7:6142839..6145208,2	MCF-7	breast:
7	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:
8	chr7:6105265..6107663-chr7:6118420..6120384,2	K562	blood:
9	chr2:135675640..135676288-chr7:6143525..6144422,2	Hela-S3	cervix:
10	chr7:6130749..6132668-chr7:6140261..6142428,2	MCF-7	breast:
11	chr12:57039228..57039880-chr7:6120649..6121377,2	Hela-S3	cervix:
12	chr7:6096871..6098648-chr7:6106964..6108540,2	MCF-7	breast:
13	chr7:6105265..6107663-chr7:6118420..6120384,2	K562	blood:
14	chr1:117601936..117602864-chr7:6143842..6144663,2	Hela-S3	cervix:
15	chr7:6097502..6099818-chr7:6138149..6139969,2	K562	blood:
16	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
17	chr13:103248649..103249379-chr7:6143733..6144282,2	NB4	blood:
18	chr7:6083755..6085434-chr7:6104765..6107098,2	K562	blood:
19	chr7:6047404..6049912-chr7:6142714..6146343,4	MCF-7	breast:
20	chr7:6118943..6121901-chr7:6135468..6137928,2	MCF-7	breast:
21	chr7:6137902..6140709-chr7:6237423..6239773,2	K562	blood:
22	chr7:6133404..6135856-chr7:6136642..6138588,2	MCF-7	breast:
23	chr10:17243122..17243935-chr7:6143879..6144532,2	HCT-116	colon:
24	chr7:6062330..6064601-chr7:6141391..6143688,2	MCF-7	breast:
25	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
26	chr7:6142947..6145756-chr7:6145999..6148954,3	MCF-7	breast:
27	chr7:6090422..6101465-chr7:6116449..6124326,16	K562	blood:
28	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
29	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
30	chr7:6140966..6142574-chr7:6434049..6436038,2	K562	blood:
31	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
32	chr17:80408304..80409044-chr7:6120953..6121818,2	Hela-S3	cervix:
33	chr11:60673252..60674207-chr7:6120970..6121722,2	Hela-S3	cervix:
34	chr7:6055602..6058271-chr7:6142750..6144893,2	MCF-7	breast:
35	chr7:6049211..6051236-chr7:6138312..6140816,2	MCF-7	breast:
36	chr7:6129689..6132230-chr7:6141187..6143186,2	K562	blood:
37	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
38	chr7:6139809..6142435-chr7:6386007..6388709,2	K562	blood:
39	chr7:6134399..6135940-chr7:6137950..6139940,2	K562	blood:
40	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:
41	chr7:6133404..6135856-chr7:6136642..6138588,2	MCF-7	breast:
42	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
43	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
44	chr7:6097184..6100296-chr7:6118283..6122245,9	MCF-7	breast:
45	chr7:6144993..6146575-chr7:6155330..6157057,2	K562	blood:
46	chr7:6127500..6130529-chr7:6140681..6143799,3	MCF-7	breast:
47	chr7:6134399..6135940-chr7:6137950..6139940,2	K562	blood:
48	chr7:6143696..6144293-chr7:73153152..73153874,2	Hela-S3	cervix:
49	chr7:6097164..6099061-chr7:6134553..6137084,2	MCF-7	breast:
50	chr7:6055317..6057272-chr7:6144133..6145966,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP42-1	chr7:6121302-6121429	XLOC_005979
2	lnc-USP42-1	chr7:6124060-6124303	XLOC_005979
3	lnc-USP42-1	chr7:6120753-6120901	XLOC_005979
4	lnc-USP42-1	chr7:6120734-6120901	XLOC_005979
5	lnc-USP42-3	chr7:6130515-6131250	NONHSAT118980
6	lnc-USP42-1	chr7:6132660-6132683	XLOC_005979
7	lnc-USP42-4	chr7:6128922-6129206	NONHSAT118979
8	lnc-USP42-1	chr7:6124776-6124887	XLOC_005979
9	lnc-USP42-1	chr7:6123963-6124367	NONHSAT118977
10	lnc-USP42-1	chr7:6124060-6124243	XLOC_005979
11	lnc-USP42-1	chr7:6128421-6128531	XLOC_005979
12	lnc-USP42-1	chr7:6124060-6124303	XLOC_005979
13	lnc-USP42-2	chr7:6131319-6131626	NONHSAT118981
14	lnc-USP42-1	chr7:6128421-6128531	XLOC_005979
15	lnc-USP42-1	chr7:6132660-6132716	XLOC_005979
16	lnc-USP42-5	chr7:6124455-6124733	NONHSAT118978
17	lnc-USP42-1	chr7:6120734-6120901	XLOC_005979
18	lnc-EIF2AK1-1	chr7:6144054-6144254	NONHSAT118982
19	lnc-USP42-1	chr7:6124060-6124303	XLOC_005979

No data

Variant related genes	Relation type
ENSG00000264605	TF binding region
ENSG00000231704	TF binding region
USP42	TF binding region
ENSG00000264605	CpG island
ENSG00000231704	CpG island
USP42	CpG island
ENSG00000122512	chromatin interactions
ENSG00000172660	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000198055	chromatin interactions
ENSG00000252929	chromatin interactions
ENSG00000082258	chromatin interactions
ENSG00000107614	chromatin interactions
ENSG00000224043	chromatin interactions
ENSG00000106077	chromatin interactions
ENSG00000163113	chromatin interactions
ENSG00000188807	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000178927	chromatin interactions
ENSG00000134697	chromatin interactions
ENSG00000207217	chromatin interactions
ENSG00000226479	chromatin interactions
ENSG00000126883	chromatin interactions
ENSG00000231704	chromatin interactions
ENSG00000134900	chromatin interactions
ENSG00000008256	chromatin interactions
ENSG00000110107	chromatin interactions
ENSG00000178397	chromatin interactions
ENSG00000264605	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000141971	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000269640	chromatin interactions
ENSG00000131187	chromatin interactions
TMEM101	miRNA target sites
LIN28B	miRNA target sites
BCL2L11	miRNA target sites
NIN	miRNA target sites
IPPK	miRNA target sites

Extended variants
information (count: 1637 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150311524	chr7:6105479-6105480	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373969706	chr7:6105496-6105497	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547987149	chr7:6105504-6105505	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181364167	chr7:6105517-6105518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527631402	chr7:6105527-6105528	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs137994431	chr7:6105583-6105584	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185500672	chr7:6105589-6105590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201959924	chr7:6105603-6105604	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537870309	chr7:6105604-6105605	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556259363	chr7:6105611-6105612	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200602635	chr7:6105615-6105616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201505168	chr7:6105625-6105626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370979478	chr7:6105634-6105635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs199660583	chr7:6105647-6105648	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189964279	chr7:6105663-6105664	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554452633	chr7:6105736-6105737	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572688249	chr7:6105743-6105744	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180950809	chr7:6105745-6105746	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558108488	chr7:6105754-6105755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576327541	chr7:6105770-6105771	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149394878	chr7:6105777-6105778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375230358	chr7:6105778-6105779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185991435	chr7:6105794-6105795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369489840	chr7:6105807-6105808	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564362426	chr7:6105817-6105818	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529396306	chr7:6105891-6105892	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145275752	chr7:6105900-6105901	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541616969	chr7:6105912-6105913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559951569	chr7:6105974-6105975	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371674812	chr7:6106005-6106006	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75744709	chr7:6106015-6106016	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565511097	chr7:6106016-6106017	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368155337	chr7:6106017-6106018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192072301	chr7:6106035-6106036	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62456207	chr7:6106037-6106038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552160758	chr7:6106043-6106044	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377540696	chr7:6106069-6106070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570739976	chr7:6106074-6106075	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs13229242	chr7:6106090-6106091	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs7804438	chr7:6106100-6106101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568157834	chr7:6106103-6106104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184014611	chr7:6106115-6106116	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547993692	chr7:6106169-6106170	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566168112	chr7:6106204-6106205	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201250248	chr7:6106215-6106216	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs199788776	chr7:6106219-6106220	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs13247204	chr7:6106228-6106229	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs201722811	chr7:6106235-6106236	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187703645	chr7:6106248-6106249	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199862439	chr7:6106249-6106250	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	17426248	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6110600-6111800	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:6110600-6112000	Enhancers	Primary B cells from cord blood	blood
3	chr7:6110800-6111200	Enhancers	HepG2	liver
4	chr7:6110800-6111400	Enhancers	K562	blood
5	chr7:6110800-6111600	Enhancers	GM12878-XiMat	blood
6	chr7:6111000-6111400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:6111200-6116600	Weak transcription	HepG2	liver
8	chr7:6111400-6114000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:6111400-6119800	Weak transcription	K562	blood
10	chr7:6112000-6114600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:6113000-6113200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:6113200-6116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:6113400-6113600	Enhancers	Placenta	Placenta
14	chr7:6113600-6114200	Weak transcription	Placenta	Placenta
15	chr7:6114000-6114400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:6114000-6114600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:6114000-6115400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:6114200-6114600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:6114200-6114600	Enhancers	Adipose Nuclei	Adipose
20	chr7:6114200-6115200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:6114200-6115400	Enhancers	Placenta	Placenta
22	chr7:6114400-6116600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:6114600-6115000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:6114600-6115200	Enhancers	Primary B cells from cord blood	blood
25	chr7:6114600-6116800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:6114600-6117000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:6114600-6120400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:6114800-6115000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:6115000-6116600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:6115000-6117000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:6115200-6116600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:6115200-6118200	Weak transcription	Primary B cells from cord blood	blood
33	chr7:6115400-6115800	Weak transcription	Placenta	Placenta
34	chr7:6115400-6116600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:6115800-6117800	Enhancers	Placenta	Placenta
36	chr7:6116400-6116600	Enhancers	Hela-S3	cervix
37	chr7:6116600-6117400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:6116600-6117600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:6116600-6117600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:6116600-6117600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:6116600-6117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:6116600-6117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:6116600-6117600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:6116600-6117600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:6116600-6117600	Flanking Active TSS	Hela-S3	cervix
46	chr7:6116600-6117600	Flanking Active TSS	HepG2	liver
47	chr7:6116600-6117800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:6116600-6118000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:6116800-6117000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:6116800-6117000	Active TSS	A549	lung

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