Variant report

Variant	nsv1060890
Chromosome Location	chr17:33884124-34011034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:33887700-33888455	K562	blood:	n/a	n/a
2	ARID3A	chr17:33994224-33994591	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:33913588-33914695	K562	blood:	n/a	n/a
4	ARID3A	chr17:33904483-33905877	K562	blood:	n/a	chr17:33905063-33905078
5	ARID3A	chr17:33894797-33895076	HepG2	liver:	n/a	n/a
6	ARID3A	chr17:33917653-33917986	K562	blood:	n/a	n/a
7	ARID3A	chr17:33905460-33905845	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:33940108-33940204	K562	blood:	n/a	n/a
9	ARID3A	chr17:33915533-33916719	K562	blood:	n/a	n/a
10	ARID3A	chr17:33914111-33914728	HepG2	liver:	n/a	n/a
11	ATF1	chr17:33905249-33905833	K562	blood:	n/a	n/a
12	ATF1	chr17:33886687-33886879	K562	blood:	n/a	n/a
13	ATF1	chr17:33916477-33916807	K562	blood:	n/a	n/a
14	ATF1	chr17:33894739-33895254	K562	blood:	n/a	n/a
15	ATF1	chr17:33911286-33911318	K562	blood:	n/a	n/a
16	ATF1	chr17:33915568-33915903	K562	blood:	n/a	n/a
17	ATF1	chr17:33887771-33888173	K562	blood:	n/a	n/a
18	ATF1	chr17:33913677-33914959	K562	blood:	n/a	chr17:33914251-33914265
19	ATF2	chr17:33923614-33923963	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr17:33914008-33914556	H1-hESC	embryonic stem cell:	n/a	chr17:33914251-33914265
21	ATF2	chr17:33894688-33895260	GM12878	blood:	n/a	n/a
22	ATF2	chr17:33913912-33914687	GM12878	blood:	n/a	chr17:33914251-33914265
23	ATF2	chr17:33905436-33905848	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr17:33913959-33914746	GM12878	blood:	n/a	chr17:33914251-33914265
25	ATF2	chr17:33905416-33905816	GM12878	blood:	n/a	n/a
26	ATF2	chr17:33905327-33905884	GM12878	blood:	n/a	n/a
27	ATF2	chr17:33913915-33914647	H1-hESC	embryonic stem cell:	n/a	chr17:33914251-33914265
28	ATF3	chr17:33894727-33895300	HepG2	liver:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
29	ATF3	chr17:33914093-33914416	H1-hESC	embryonic stem cell:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
30	ATF3	chr17:33905378-33905723	K562	blood:	n/a	chr17:33905504-33905513
31	ATF3	chr17:33894730-33895257	K562	blood:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
32	ATF3	chr17:33914090-33914442	HepG2	liver:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
33	ATF3	chr17:33894741-33895346	H1-hESC	embryonic stem cell:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
34	ATF3	chr17:33913986-33914472	H1-hESC	embryonic stem cell:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
35	ATF3	chr17:33914079-33914465	K562	blood:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
36	ATF3	chr17:33913945-33914504	GM12878	blood:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
37	ATF3	chr17:33915567-33915963	K562	blood:	n/a	n/a
38	ATF3	chr17:33913868-33914708	A549	lung:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
39	ATF3	chr17:33894659-33895263	K562	blood:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
40	ATF3	chr17:33913940-33914482	K562	blood:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
41	ATF3	chr17:33894867-33895232	HepG2	liver:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
42	ATF3	chr17:33914115-33914388	GM12878	blood:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
43	ATF3	chr17:33894830-33895140	GM12878	blood:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
44	ATF3	chr17:33894741-33895265	H1-hESC	embryonic stem cell:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
45	ATF3	chr17:33913680-33914641	K562	blood:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
46	ATF3	chr17:33894712-33895356	GM12878	blood:	n/a	chr17:33894894-33894903 chr17:33895066-33895086 chr17:33895005-33895018
47	ATF3	chr17:33887694-33888158	K562	blood:	n/a	n/a
48	ATF3	chr17:33905300-33905921	A549	lung:	n/a	chr17:33905504-33905513
49	ATF3	chr17:33913981-33914403	HepG2	liver:	n/a	chr17:33914275-33914285 chr17:33914251-33914264 chr17:33914251-33914262 chr17:33914278-33914288 chr17:33914252-33914262 chr17:33914251-33914266 chr17:33914255-33914262 chr17:33914277-33914288 chr17:33914278-33914288 chr17:33914253-33914264 chr17:33914252-33914265 chr17:33914278-33914285 chr17:33914275-33914286 chr17:33914254-33914262 chr17:33914253-33914264 chr17:33914243-33914263 chr17:33914252-33914265 chr17:33914255-33914263 chr17:33914274-33914289 chr17:33914252-33914263 chr17:33914275-33914285 chr17:33914252-33914262
50	ATF3	chr17:33905187-33906025	A549	lung:	n/a	chr17:33905504-33905513

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33914212-33914262	Hela-S3	cervix:	n/a
2	chr17:33905444-33905494	HRPEpiC	eye:	n/a
3	chr17:33905720-33905770	K562	blood:	n/a
4	chr17:33914828-33914878	HCM	heart:	n/a
5	chr17:33894630-33894680	GM12878	blood:	n/a
6	chr17:33914403-33914453	ECC-1	luminal epithelium:	n/a
7	chr17:33914212-33914262	Hela-S3	cervix:	n/a
8	chr17:33905444-33905494	HRPEpiC	eye:	n/a
9	chr17:33905720-33905770	K562	blood:	n/a
10	chr17:33914828-33914878	HCM	heart:	n/a
11	chr17:33894630-33894680	GM12878	blood:	n/a
12	chr17:33914403-33914453	ECC-1	luminal epithelium:	n/a
13	chr17:33914362-33914412	Jurkat	blood:	n/a
14	chr17:33895228-33895278	H1-hESC	embryonic stem cell:	embryo
15	chr17:33894952-33895002	A549	lung:	n/a
16	chr17:33900674-33900724	HMEC	breast:	n/a
17	chr17:33913985-33914035	HCM	heart:	n/a
18	chr17:33914271-33914321	HRE	kidney:	n/a
19	chr17:33914828-33914878	HepG2	liver:	n/a
20	chr17:33905541-33905591	HRPEpiC	eye:	n/a
21	chr17:33914271-33914321	HIPEpiC	eye:	n/a
22	chr17:33924096-33924146	PrEC	prostate:	n/a
23	chr17:33905725-33905775	CMK	blood:	n/a
24	chr17:33905444-33905494	HAEpiC	amniotic membrane:	n/a
25	chr17:33914271-33914321	NHBE	bronchial:	n/a
26	chr17:33894630-33894680	MCF-7	breast:	n/a
27	chr17:33894630-33894680	CMK	blood:	n/a
28	chr17:33905661-33905711	H1-hESC	embryonic stem cell:	embryo
29	chr17:33900679-33900729	HepG2	liver:	n/a
30	chr17:33909232-33909282	LNCaP	prostate:	n/a
31	chr17:33897374-33897424	ovcar-3	ovarian:	n/a
32	chr17:33895228-33895278	AG09309	skin:	n/a
33	chr17:33924096-33924146	NHBE	bronchial:	n/a
34	chr17:33895609-33895659	HRE	kidney:	n/a
35	chr17:33895357-33895407	PANC-1	pancreas:	n/a
36	chr17:33997547-33997597	HL-60	blood:	n/a
37	chr17:33905541-33905591	ECC-1	luminal epithelium:	n/a
38	chr17:33894630-33894680	ovcar-3	ovarian:	n/a
39	chr17:33905725-33905775	GM12878	blood:	n/a
40	chr17:33913985-33914035	GM19239	blood:	n/a
41	chr17:33905870-33905920	H1-hESC	embryonic stem cell:	embryo
42	chr17:33892241-33892291	Hepatocyte	liver:	n/a
43	chr17:33892241-33892291	HNPCEpiC	eye:	n/a
44	chr17:33895357-33895407	CMK	blood:	n/a
45	chr17:33924096-33924146	GM12891	blood:	n/a
46	chr17:33905597-33905647	GM12892	blood:	n/a
47	chr17:33905725-33905775	AG04450	lung:	fetal
48	chr17:33993210-33993260	HCF	heart:	n/a
49	chr17:33914268-33914318	K562	blood:	n/a
50	chr17:33902444-33902494	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:90931103..90932010-chr17:33913689..33914304,2	Hela-S3	cervix:
2	chr17:33954511..33957116-chr17:33962502..33964057,2	K562	blood:
3	chr17:33929073..33932041-chr17:33938211..33940599,2	K562	blood:
4	chr17:33992285..33994808-chr17:34136311..34138160,2	K562	blood:
5	chr17:33914034..33914731-chr9:140506382..140507316,2	HCT-116	colon:
6	chr17:33946407..33948892-chr17:33953816..33956714,3	K562	blood:
7	chr17:33864569..33869358-chr17:33886341..33888790,5	K562	blood:
8	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:
9	chr17:33958136..33960077-chr17:33969151..33971266,2	K562	blood:
10	chr17:33895183..33897517-chr17:33934018..33936471,2	K562	blood:
11	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
12	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
13	chr17:33921434..33923649-chr17:33954336..33955867,2	K562	blood:
14	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:
15	chr17:33893246..33896592-chr17:33904977..33907170,4	MCF-7	breast:
16	chr17:33983734..33986316-chr17:33989819..33992432,2	K562	blood:
17	chr17:33954511..33957116-chr17:33962502..33964057,2	K562	blood:
18	chr17:33905539..33906227-chr6:27114174..27114709,2	Hela-S3	cervix:
19	chr17:33905316..33906150-chr17:33913826..33914517,2	MCF-7	breast:
20	chr17:33929073..33932041-chr17:33938211..33940599,2	K562	blood:
21	chr17:33990380..33993199-chr17:33997435..33999392,3	K562	blood:
22	chr17:33998247..34000997-chr17:34012546..34014883,2	K562	blood:
23	chr17:33983734..33986316-chr17:33989819..33992432,2	K562	blood:
24	chr14:67707832..67708382-chr17:33914542..33915288,2	Hela-S3	cervix:
25	chr17:33959378..33962063-chr17:33964670..33966856,2	K562	blood:
26	chr17:33867300..33869220-chr17:33917248..33919262,2	K562	blood:
27	chr17:33905349..33905998-chr17:33914162..33914718,2	HCT-116	colon:
28	chr17:33989028..33991880-chr17:33997553..33999488,2	K562	blood:
29	chr17:33916904..33919216-chr17:33993404..33995883,2	K562	blood:
30	chr17:33913630..33915202-chr17:34134873..34137603,2	K562	blood:
31	chr17:33893761..33897248-chr17:33899377..33902990,5	MCF-7	breast:
32	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:
33	chr17:33913805..33914612-chr17:56708718..56709372,2	Hela-S3	cervix:
34	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
35	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:
36	chr11:94226544..94227246-chr17:33904994..33905713,2	Hela-S3	cervix:
37	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
38	chr17:33886372..33890944-chr17:33891247..33895229,11	K562	blood:
39	chr17:33905180..33906102-chr17:33913821..33914729,3	K562	blood:
40	chr17:33916904..33919216-chr17:33993404..33995883,2	K562	blood:
41	chr17:33905538..33906296-chr19:17952868..17953561,2	Hela-S3	cervix:
42	chr17:33949132..33951570-chr17:33954798..33957288,2	K562	blood:
43	chr17:33949132..33951570-chr17:33954798..33957288,2	K562	blood:
44	chr17:33902749..33905169-chr17:33948992..33950595,2	K562	blood:
45	chr17:33996336..33998248-chr17:34000233..34002749,3	K562	blood:
46	chr17:33913527..33915363-chr17:34134013..34136643,3	MCF-7	breast:
47	chr17:33870974..33872965-chr17:33896270..33898076,2	K562	blood:
48	chr17:33942629..33946842-chr17:33950583..33953394,3	K562	blood:
49	chr17:33984816..33987064-chr17:33989819..33992082,2	K562	blood:
50	chr17:33905920..33908004-chr17:33983373..33986029,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAS2L2-1	chr17:34010128-34011922	ENSG00000267003.1
2	lnc-GAS2L2-1	chr17:34010123-34011922	ENSG00000245181
3	lnc-GAS2L2-1	chr17:34006411-34007939	ENSG00000245181
4	lnc-PEX12-1	chr17:33923923-33924147	NONHSAT053112
5	lnc-GAS2L2-1	chr17:34006411-34007944	ENSG00000267003.1

Variant related genes	Relation type
PEX12	TF binding region
ENSG00000267592	TF binding region
AP2B1	TF binding region
ENSG00000267625	TF binding region
SNORD7	TF binding region
ENSG00000242660	TF binding region
ENSG00000267321	TF binding region
SLFN14	TF binding region
PEX12	CpG island
ENSG00000267592	CpG island
AP2B1	CpG island
ENSG00000267625	CpG island
SNORD7	CpG island
ENSG00000242660	CpG island
ENSG00000267321	CpG island
SLFN14	CpG island
ENSG00000267578	chromatin interactions
ENSG00000103550	chromatin interactions
ENSG00000072415	chromatin interactions
ENSG00000236320	chromatin interactions
ENSG00000267625	chromatin interactions
ENSG00000239520	chromatin interactions
ENSG00000181704	chromatin interactions
ENSG00000242660	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000267035	chromatin interactions
ENSG00000140575	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000020922	chromatin interactions
ENSG00000267321	chromatin interactions
ENSG00000266947	chromatin interactions
ENSG00000197070	chromatin interactions
ENSG00000205045	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000166750	chromatin interactions
ENSG00000105639	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000174628	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000108733	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000207297	chromatin interactions
ENSG00000136280	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000267359	chromatin interactions
ENSG00000168876	chromatin interactions
ENSG00000172660	chromatin interactions
ENSG00000006125	chromatin interactions
IPO5	miRNA target sites
GPN3	miRNA target sites

Extended variants
information (count: 4704 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:4704 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147396945	chr17:33884124-33884125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373500415	chr17:33884166-33884167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548910949	chr17:33884243-33884244	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540019015	chr17:33884322-33884323	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559890215	chr17:33884337-33884338	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532318792	chr17:33884344-33884345	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184533427	chr17:33884387-33884388	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565135389	chr17:33884414-33884415	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530928485	chr17:33884504-33884505	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550836312	chr17:33884513-33884514	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139678049	chr17:33884567-33884568	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201410402	chr17:33884597-33884598	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536864317	chr17:33884644-33884645	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189281314	chr17:33884656-33884657	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199663871	chr17:33884688-33884689	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373906466	chr17:33884690-33884691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538967367	chr17:33884703-33884704	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145261252	chr17:33884722-33884723	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181692308	chr17:33884741-33884742	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537835583	chr17:33884757-33884758	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554274047	chr17:33884769-33884770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574216427	chr17:33884793-33884794	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10512472	chr17:33884804-33884805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
24	rs375238739	chr17:33884823-33884824	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368478550	chr17:33884909-33884910	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372726659	chr17:33884942-33884943	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371510564	chr17:33884943-33884944	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559923195	chr17:33884952-33884953	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376520213	chr17:33885004-33885005	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576920564	chr17:33885014-33885015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145760799	chr17:33885033-33885034	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562791403	chr17:33885042-33885043	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184258841	chr17:33885049-33885050	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545696683	chr17:33885149-33885150	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550970542	chr17:33885169-33885170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148545365	chr17:33885200-33885201	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs530228644	chr17:33885208-33885209	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547068981	chr17:33885216-33885217	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs116369700	chr17:33885242-33885243	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142755847	chr17:33885259-33885260	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536685975	chr17:33885430-33885431	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs2124246	chr17:33885431-33885432	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2586511	chr17:33885467-33885468	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2124247	chr17:33885468-33885469	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569353500	chr17:33885473-33885474	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564865952	chr17:33885477-33885478	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs114652770	chr17:33885500-33885501	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576723737	chr17:33885509-33885510	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535042599	chr17:33885526-33885527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574051306	chr17:33885536-33885537	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:4459 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33870400-33888600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:33883200-33886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:33883200-33886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:33883400-33888600	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:33883800-33884200	Flanking Active TSS	K562	blood
6	chr17:33883800-33886400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr17:33884200-33884400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr17:33884200-33884600	Transcr. at gene 5' and 3'	K562	blood
9	chr17:33884600-33885200	Flanking Active TSS	K562	blood
10	chr17:33885200-33886400	Enhancers	K562	blood
11	chr17:33886000-33888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:33886400-33886600	Bivalent Enhancer	HUVEC	blood vessel
13	chr17:33886400-33886800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr17:33886400-33886800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:33886400-33887600	Flanking Active TSS	K562	blood
16	chr17:33886800-33888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr17:33886800-33889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:33887200-33888200	Enhancers	Duodenum Mucosa	Duodenum
19	chr17:33887600-33888200	Active TSS	K562	blood
20	chr17:33887800-33888600	Enhancers	Fetal Thymus	thymus
21	chr17:33888200-33888400	Flanking Active TSS	K562	blood
22	chr17:33888400-33889800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:33888400-33890200	Enhancers	K562	blood
24	chr17:33888600-33894200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:33889600-33894000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:33889800-33894000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:33890200-33890400	Flanking Active TSS	K562	blood
28	chr17:33890400-33890600	Enhancers	K562	blood
29	chr17:33890600-33892200	Flanking Active TSS	K562	blood
30	chr17:33892200-33893600	Enhancers	K562	blood
31	chr17:33893600-33894200	Flanking Active TSS	K562	blood
32	chr17:33893800-33894000	Enhancers	Dnd41	blood
33	chr17:33894000-33894200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr17:33894000-33894200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:33894000-33894200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:33894000-33894200	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr17:33894000-33894200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr17:33894000-33894400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:33894000-33894400	Flanking Active TSS	Dnd41	blood
40	chr17:33894000-33895400	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr17:33894000-33895400	Active TSS	Fetal Lung	lung
42	chr17:33894000-33895800	Active TSS	Fetal Kidney	kidney
43	chr17:33894000-33896400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:33894000-33896400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr17:33894000-33896400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr17:33894000-33897000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr17:33894200-33894400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr17:33894200-33894400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr17:33894200-33894400	Enhancers	Primary B cells from peripheral blood	blood
50	chr17:33894200-33894400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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