Variant report

Variant	nsv831337
Chromosome Location	chr1:145189320-145393470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4238)
CpG islands
(count:1955)
Chromatin interactive
region (count:271)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4238 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145382074-145383359	K562	blood:	n/a	n/a
2	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
3	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:145384459-145384818	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:145382372-145383307	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
7	ARID3A	chr1:145293424-145293644	K562	blood:	n/a	n/a
8	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
9	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
10	ARID3A	chr1:145289928-145289938	K562	blood:	n/a	n/a
11	ARID3A	chr1:145390760-145391232	HepG2	liver:	n/a	n/a
12	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
13	ATF1	chr1:145293304-145293510	K562	blood:	n/a	n/a
14	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
15	ATF1	chr1:145254447-145254481	K562	blood:	n/a	n/a
16	ATF1	chr1:145292274-145292564	K562	blood:	n/a	n/a
17	ATF1	chr1:145382072-145383169	K562	blood:	n/a	n/a
18	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
19	ATF2	chr1:145208822-145209212	GM12878	blood:	n/a	n/a
20	ATF2	chr1:145382258-145383454	GM12878	blood:	n/a	n/a
21	ATF2	chr1:145382163-145383248	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr1:145233655-145233883	GM12878	blood:	n/a	n/a
23	ATF2	chr1:145291190-145292070	GM12878	blood:	n/a	n/a
24	ATF2	chr1:145382202-145383239	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr1:145382293-145383421	GM12878	blood:	n/a	n/a
26	ATF3	chr1:145208827-145209217	A549	lung:	n/a	n/a
27	ATF3	chr1:145208814-145209112	A549	lung:	n/a	n/a
28	ATF3	chr1:145382145-145383324	K562	blood:	n/a	chr1:145382499-145382512 chr1:145382411-145382422 chr1:145382498-145382513
29	ATF3	chr1:145382543-145383238	A549	lung:	n/a	n/a
30	ATF3	chr1:145382687-145383291	HCT-116	colon:	n/a	n/a
31	ATF3	chr1:145382258-145382630	K562	blood:	n/a	chr1:145382499-145382512 chr1:145382411-145382422 chr1:145382498-145382513
32	ATF3	chr1:145382569-145383280	A549	lung:	n/a	n/a
33	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr1:145208936-145209146	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr1:145253854-145253876	K562	blood:	n/a	n/a
36	BACH1	chr1:145292365-145292516	K562	blood:	n/a	n/a
37	BACH1	chr1:145382024-145383427	K562	blood:	n/a	n/a
38	BACH1	chr1:145254231-145254659	K562	blood:	n/a	n/a
39	BATF	chr1:145369205-145369460	GM12878	blood:	n/a	n/a
40	BATF	chr1:145390019-145390330	GM12878	blood:	n/a	n/a
41	BATF	chr1:145323297-145323456	GM12878	blood:	n/a	n/a
42	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
43	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
44	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
45	BATF	chr1:145290357-145290900	GM12878	blood:	n/a	n/a
46	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
47	BATF	chr1:145209382-145209998	GM12878	blood:	n/a	n/a
48	BATF	chr1:145291523-145292252	GM12878	blood:	n/a	n/a
49	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
50	BATF	chr1:145369080-145369247	GM12878	blood:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145382963-145383013	Caco-2	colon:	n/a
2	chr1:145250914-145250964	GM19239	blood:	n/a
3	chr1:145301948-145301998	NH-A	brain:	n/a
4	chr1:145382963-145383013	Caco-2	colon:	n/a
5	chr1:145250914-145250964	GM19239	blood:	n/a
6	chr1:145301948-145301998	NH-A	brain:	n/a
7	chr1:145213338-145213388	A549	lung:	n/a
8	chr1:145382340-145382390	GM12878	blood:	n/a
9	chr1:145366524-145366574	IMR90	lung:	fetal
10	chr1:145375603-145375653	HNPCEpiC	eye:	n/a
11	chr1:145210014-145210064	HEK293	kidney:	embryo
12	chr1:145366536-145366586	IMR90	lung:	fetal
13	chr1:145385391-145385441	AG04450	lung:	fetal
14	chr1:145210014-145210064	Jurkat	blood:	n/a
15	chr1:145389393-145389443	HL-60	blood:	n/a
16	chr1:145390315-145390365	U87	brain:	n/a
17	chr1:145382340-145382390	NHBE	bronchial:	n/a
18	chr1:145382734-145382784	NHDF-neo	bronchial:	n/a
19	chr1:145382616-145382666	RPTEC	kidney:	n/a
20	chr1:145382963-145383013	ProgFib	skin:	n/a
21	chr1:145382734-145382784	LNCaP	prostate:	n/a
22	chr1:145207943-145207993	IMR90	lung:	fetal
23	chr1:145385163-145385213	AG10803	skin:	n/a
24	chr1:145209930-145209980	Caco-2	colon:	n/a
25	chr1:145375603-145375653	HRE	kidney:	n/a
26	chr1:145382616-145382666	ECC-1	luminal epithelium:	n/a
27	chr1:145385677-145385727	AG04450	lung:	fetal
28	chr1:145213338-145213388	SK-N-SH_RA	brain:	n/a
29	chr1:145389393-145389443	SK-N-SH_RA	brain:	n/a
30	chr1:145208980-145209030	SKMC	muscle:	n/a
31	chr1:145385771-145385821	GM19239	blood:	n/a
32	chr1:145385677-145385727	NT2-D1	testis:	n/a
33	chr1:145209830-145209880	A549	lung:	n/a
34	chr1:145209930-145209980	PrEC	prostate:	n/a
35	chr1:145382734-145382784	BJ	skin:	n/a
36	chr1:145366536-145366586	GM12891	blood:	n/a
37	chr1:145302551-145302601	GM06990	blood:	n/a
38	chr1:145211389-145211439	HAEpiC	amniotic membrane:	n/a
39	chr1:145213338-145213388	Hepatocyte	liver:	n/a
40	chr1:145209236-145209286	AG09319	gingival:	n/a
41	chr1:145389393-145389443	HEEpiC	esophagus:	n/a
42	chr1:145382963-145383013	HRPEpiC	eye:	n/a
43	chr1:145207943-145207993	GM19239	blood:	n/a
44	chr1:145382340-145382390	PANC-1	pancreas:	n/a
45	chr1:145385334-145385384	AG04449	skin:	fetal
46	chr1:145385771-145385821	MCF-7	breast:	n/a
47	chr1:145382734-145382784	MCF10A-Er-Src	breast:	n/a
48	chr1:145382340-145382390	NHDF-neo	bronchial:	n/a
49	chr1:145205174-145205224	NHBE	bronchial:	n/a
50	chr1:145213338-145213388	HCF	heart:	n/a

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:145391093..145393623-chr1:145439584..145442281,2	MCF-7	breast:
2	chr1:145382610..145383402-chr19:3762665..3763175,2	Hela-S3	cervix:
3	chr1:145382999..145384586-chr17:49230281..49232351,2	MCF-7	breast:
4	chr1:145382282..145382834-chr5:179247501..179248079,2	Hela-S3	cervix:
5	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
6	chr1:145382766..145384634-chr20:46418172..46420741,2	MCF-7	breast:
7	chr1:145382296..145382909-chr22:43011234..43011744,2	HCT-116	colon:
8	chr1:145382262..145383113-chr18:12883770..12884685,2	Hela-S3	cervix:
9	chr1:145381405..145384694-chr1:145511956..145517470,7	MCF-7	breast:
10	chr1:145382115..145382985-chr4:40058652..40059527,2	Hela-S3	cervix:
11	chr1:145382398..145383107-chr18:12376698..12377397,2	Hela-S3	cervix:
12	chr1:145382909..145383542-chr3:5020677..5021614,3	Hela-S3	cervix:
13	chr1:145382774..145384414-chr1:145436877..145440342,3	MCF-7	breast:
14	chr1:145381593..145384379-chr17:62500088..62503515,3	MCF-7	breast:
15	chr1:145379178..145384447-chr1:149221650..149226208,18	MCF-7	breast:
16	chr1:53163301..53163992-chr1:145209547..145210339,2	Hela-S3	cervix:
17	chr1:145382897..145383433-chr12:54409991..54410785,2	Hela-S3	cervix:
18	chr1:144930971..144932699-chr1:145382569..145384639,2	MCF-7	breast:
19	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
20	chr1:145381741..145382340-chr15:60689392..60689967,2	Hela-S3	cervix:
21	chr1:145382412..145382912-chr9:100684586..100685344,2	Hela-S3	cervix:
22	chr1:145382373..145383063-chr9:139622320..139622824,2	Hela-S3	cervix:
23	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
24	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
25	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
26	chr1:120555279..120557791-chr1:145264672..145267612,3	K562	blood:
27	chr1:145381291..145384278-chr15:56284107..56286728,2	MCF-7	breast:
28	chr1:16947176..16949630-chr1:145380133..145382299,2	K562	blood:
29	chr1:145393178..145395502-chr1:145411675..145414001,2	K562	blood:
30	chr1:145381926..145385386-chr1:145586664..145591054,3	K562	blood:
31	chr1:109505593..109506549-chr1:145382556..145383354,2	Hela-S3	cervix:
32	chr1:145382407..145383507-chr17:41465211..41466032,3	HCT-116	colon:
33	chr1:145382405..145382955-chr12:132674443..132675115,2	Hela-S3	cervix:
34	chr1:145381258..145386194-chr1:145434301..145446043,20	K562	blood:
35	chr1:145382409..145383592-chr5:179050098..179050846,3	Hela-S3	cervix:
36	chr1:144989394..144991643-chr1:145383439..145385394,2	K562	blood:
37	chr1:145382727..145383425-chr12:27090890..27091496,2	Hela-S3	cervix:
38	chr1:145382530..145383456-chr17:16118328..16119083,2	Hela-S3	cervix:
39	chr1:120533140..120534660-chr1:145287386..145288888,2	MCF-7	breast:
40	chr1:145382327..145383019-chr17:58155992..58156742,2	MCF-7	breast:
41	chr1:145382599..145383425-chr12:48213442..48214824,3	Hela-S3	cervix:
42	chr1:145382531..145383311-chr10:104952561..104953086,2	Hela-S3	cervix:
43	chr1:145383004..145383538-chr12:6446006..6446510,2	Hela-S3	cervix:
44	chr1:145209043..145210611-chr1:149222292..149224968,3	MCF-7	breast:
45	chr1:145382810..145383525-chr5:172142130..172142679,2	Hela-S3	cervix:
46	chr1:145382244..145383020-chr2:148777927..148778778,2	HCT-116	colon:
47	chr1:145387193..145388967-chr1:145477124..145478785,2	MCF-7	breast:
48	chr1:145036819..145040211-chr1:145382559..145385935,4	MCF-7	breast:
49	chr1:145381364..145383003-chr6:30708944..30710900,2	MCF-7	breast:
50	chr1:145379802..145384450-chr1:145513670..145517902,5	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-1	chr1:145373054-145373507	NONHSAT005887
2	lnc-NOTCH2NL-2	chr1:145303910-145303982	NR_104217
3	lnc-NOTCH2NL-2	chr1:145369718-145370303	NR_104217
4	lnc-POLR3GL-1	chr1:145376544-145376705	NONHSAT005888
5	lnc-POLR3GL-1	chr1:145377107-145377311	NONHSAT005894
6	lnc-NOTCH2NL-2	chr1:145301720-145301817	NR_104217
7	lnc-NOTCH2NL-2	chr1:145368441-145369446	NR_104217
8	lnc-NOTCH2NL-2	chr1:145311103-145311154	NR_104217
9	lnc-POLR3GL-1	chr1:145377017-145377311	ENSG00000233396.3
10	lnc-NOTCH2NL-2	chr1:145320511-145320619	NR_104217
11	lnc-POLR3GL-1	chr1:145372088-145373798	NONHSAT005886
12	lnc-NOTCH2NL-2	chr1:145318936-145318987	NR_104217
13	lnc-POLR3GL-2	chr1:145373054-145373507	ENSG00000227280.1
14	lnc-NOTCH2NL-2	chr1:145304447-145304652	NR_104217
15	lnc-POLR3GL-1	chr1:145375343-145375672	NONHSAT005887
16	lnc-NOTCH2NL-2	chr1:145319624-145319796	NR_104217
17	lnc-NOTCH2NL-2	chr1:145289770-145289906	NR_104217
18	lnc-NOTCH2NL-2	chr1:145309900-145310063	NR_104217
19	lnc-NOTCH2NL-2	chr1:145305945-145305996	NR_104217
20	lnc-NOTCH2NL-2	chr1:145290429-145290511	NR_104217
21	lnc-NOTCH2NL-2	chr1:145316512-145316684	NR_104217
22	lnc-POLR3GL-2	chr1:145375343-145375554	ENSG00000227280.1
23	lnc-POLR3GL-1	chr1:145375583-145376447	NONHSAT005888
24	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
25	lnc-NOTCH2NL-2	chr1:145317406-145317457	NR_104217
26	lnc-NOTCH2NL-2	chr1:145293371-145293580	NR_104217
27	lnc-NOTCH2NL-2	chr1:145318054-145318226	NR_104217
28	lnc-NOTCH2NL-2	chr1:145290422-145290511	NONHSAT005883
29	lnc-POLR3GL-1	chr1:145377701-145377772	ENSG00000233396
30	lnc-PDE4DIP-6	chr1:145200338-145200891	ENSG00000272709.1
31	lnc-NOTCH2NL-2	chr1:145290781-145290850	NONHSAT005883
32	lnc-POLR3GL-1	chr1:145376544-145376692	ENSG00000233396.3
33	lnc-POLR3GL-1	chr1:145377701-145377822	NONHSAT005894
34	lnc-POLR3GL-1	chr1:145377017-145377311	ENSG00000233396
35	lnc-POLR3GL-1	chr1:145376167-145376447	ENSG00000233396
36	lnc-POLR3GL-1	chr1:145373296-145373507	ENSG00000233396.3
37	lnc-NOTCH2NL-2	chr1:145302649-145302868	NR_104217
38	lnc-NOTCH2NL-2	chr1:145291855-145291972	NONHSAT005883

No data

Variant related genes	Relation type
ENSG00000272709	TF binding region
NOTCH2NL	TF binding region
ENSG00000233396	TF binding region
RNVU1-6	TF binding region
ENSG00000255168	TF binding region
NBPF10	TF binding region
ENSG00000272709	CpG island
NOTCH2NL	CpG island
ENSG00000233396	CpG island
RNVU1-6	CpG island
ENSG00000255168	CpG island
NBPF10	CpG island
ENSG00000169136	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000101182	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000125844	chromatin interactions
ENSG00000201142	chromatin interactions
ENSG00000207349	chromatin interactions
ENSG00000104951	chromatin interactions
ENSG00000177045	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000131779	chromatin interactions
ENSG00000181039	chromatin interactions
ENSG00000185670	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000113916	chromatin interactions
ENSG00000272393	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000158019	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000256312	chromatin interactions
ENSG00000129474	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000272762	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000115446	chromatin interactions
ENSG00000100490	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000244619	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000211451	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000268592	chromatin interactions
ENSG00000234222	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000258857	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000258457	chromatin interactions
ENSG00000037474	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000140406	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000152022	chromatin interactions
ENSG00000124120	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000185950	chromatin interactions
ENSG00000257254	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000171174	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000065809	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000155254	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000163472	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000177144	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000111790	chromatin interactions
ENSG00000076685	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000204406	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000134107	chromatin interactions
ENSG00000034152	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000076604	chromatin interactions
ENSG00000140521	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000168291	chromatin interactions
ENSG00000239672	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000198952	chromatin interactions
ENSG00000198353	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000213024	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000100109	chromatin interactions
ENSG00000185338	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000252211	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000259132	chromatin interactions
ENSG00000162641	chromatin interactions
ENSG00000260288	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000100413	chromatin interactions
ENSG00000254837	chromatin interactions
ENSG00000137818	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000198900	chromatin interactions
ENSG00000011052	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000064102	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000131795	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000175536	chromatin interactions
ENSG00000128829	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000136758	chromatin interactions
ENSG00000140740	chromatin interactions
ENSG00000183617	chromatin interactions
ENSG00000168509	chromatin interactions
ENSG00000131788	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000184402	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000182518	chromatin interactions
ENSG00000125246	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000186141	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000159459	chromatin interactions
ENSG00000135829	chromatin interactions
ENSG00000069869	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000258099	chromatin interactions
ENSG00000272189	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000173852	chromatin interactions
ENSG00000120256	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000121940	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000202317	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000263811	chromatin interactions
ENSG00000205861	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000153885	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000073417	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000163386	chromatin interactions
ENSG00000261441	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000168894	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000177989	chromatin interactions
ENSG00000159363	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000115947	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000198483	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000163220	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000184205	chromatin interactions
ENSG00000196182	chromatin interactions
ENSG00000253190	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000186364	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000221886	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000120539	chromatin interactions
ENSG00000121851	chromatin interactions
ENSG00000027001	chromatin interactions
ENSG00000272933	chromatin interactions
ENSG00000165879	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000051341	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000041353	chromatin interactions
ENSG00000248487	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000213240	chromatin interactions

Extended variants
information (count: 6133 )
Associated
traits (count: 173 )

Variant overlapped rSNPs/rCNVs (count:6133 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587720038	chr1:145189320-145189321	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79367527	chr1:145189331-145189332	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587602551	chr1:145189336-145189337	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201993888	chr1:145189354-145189355	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148446555	chr1:145189409-145189410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372962939	chr1:145189431-145189432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587672004	chr1:145189438-145189439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587712453	chr1:145189449-145189450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587610956	chr1:145189451-145189452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587665372	chr1:145189499-145189500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370178279	chr1:145189501-145189502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375609633	chr1:145189531-145189532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200109420	chr1:145189561-145189562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587744973	chr1:145189626-145189627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587622843	chr1:145189651-145189652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587662624	chr1:145189657-145189658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201079476	chr1:145189715-145189716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587736138	chr1:145189734-145189735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201997042	chr1:145189759-145189760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61814460	chr1:145189765-145189766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587615627	chr1:145189819-145189820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2603997	chr1:145189904-145189905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201286880	chr1:145189953-145189954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201697806	chr1:145190029-145190030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587689099	chr1:145190046-145190047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200276465	chr1:145190211-145190212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368640353	chr1:145190282-145190283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375164467	chr1:145190322-145190323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587770734	chr1:145190329-145190330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201187239	chr1:145190356-145190357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587644000	chr1:145190411-145190412	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200168136	chr1:145190415-145190416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79896053	chr1:145190419-145190420	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2924832	chr1:145190435-145190436	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199748277	chr1:145190472-145190473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61814481	chr1:145190614-145190615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112810156	chr1:145190622-145190623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58567136	chr1:145190636-145190637	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587776067	chr1:145190637-145190638	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61814482	chr1:145190643-145190644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587637387	chr1:145190690-145190691	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372933823	chr1:145190704-145190705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587723048	chr1:145190705-145190706	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61814483	chr1:145190708-145190709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587752449	chr1:145190714-145190715	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200927166	chr1:145190768-145190769	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587654537	chr1:145190772-145190773	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201906708	chr1:145190804-145190805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2996431	chr1:145190860-145190861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202192577	chr1:145190865-145190866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:173)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	20808228	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22102821	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5607 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145177600-145191800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:145178200-145190600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:145186600-145195800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:145187400-145195600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:145187400-145195600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:145187600-145191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:145187600-145194600	Weak transcription	Osteobl	bone
8	chr1:145188200-145195800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:145188800-145189400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:145188800-145189400	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:145188800-145189400	Enhancers	Small Intestine	intestine
12	chr1:145188800-145189400	Enhancers	HMEC	breast
13	chr1:145188800-145189400	Enhancers	HSMM	muscle
14	chr1:145188800-145190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:145188800-145191400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:145189000-145189400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:145189000-145189400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:145189000-145189400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:145189000-145189400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:145189000-145189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:145189000-145189400	Enhancers	Dnd41	blood
22	chr1:145189000-145189400	Enhancers	NHDF-Ad	bronchial
23	chr1:145189000-145189400	Enhancers	NHEK	skin
24	chr1:145189000-145189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:145189000-145190000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:145189000-145190600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:145189000-145191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:145189200-145189400	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:145189200-145189400	Enhancers	Primary T cells from cord blood	blood
30	chr1:145189200-145189400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:145189200-145189400	Enhancers	Fetal Thymus	thymus
32	chr1:145189200-145190000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:145189200-145190000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:145189200-145190400	Weak transcription	Primary B cells from cord blood	blood
35	chr1:145189200-145190600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:145189200-145191400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:145189200-145192000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:145189400-145190400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:145189400-145190400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:145189400-145191200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:145189400-145191200	Weak transcription	Fetal Thymus	thymus
42	chr1:145189400-145192200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:145189400-145194800	Weak transcription	Dnd41	blood
44	chr1:145189400-145195600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:145189400-145195600	Weak transcription	HMEC	breast
46	chr1:145189400-145195600	Weak transcription	NHDF-Ad	bronchial
47	chr1:145189400-145197200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:145189400-145199600	Weak transcription	Primary T cells from cord blood	blood
49	chr1:145189600-145190000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:145190000-145190600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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