Variant report

Variant	nsv817325
Chromosome Location	chr2:186625679-187200841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2044)
CpG islands
(count:367)
Chromatin interactive
region (count:81)
LncRNA
region (count:50)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:187062701-187063034	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:187164433-187164716	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:186973201-186973628	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:186756102-186757040	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:186766781-186767039	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:187121356-187121642	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:187046339-187046834	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:187173020-187173545	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:186933182-186933390	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:187168763-187169293	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:186994689-186995458	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:186678380-186678904	HepG2	liver:	n/a	n/a
16	ATF1	chr2:186693024-186693115	K562	blood:	n/a	n/a
17	BACH1	chr2:186917756-186918018	H1-hESC	embryonic stem cell:	n/a	chr2:186917846-186917860
18	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:186698786-186698866	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr2:186650911-186651150	GM12878	blood:	n/a	chr2:186651050-186651061
21	BATF	chr2:186661618-186661923	GM12878	blood:	n/a	n/a
22	BATF	chr2:186650918-186651197	GM12878	blood:	n/a	chr2:186651050-186651061
23	BHLHE40	chr2:186678327-186678780	HepG2	liver:	n/a	n/a
24	BHLHE40	chr2:186678411-186678682	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:187168871-187169071	HepG2	liver:	n/a	n/a
26	BHLHE40	chr2:186727838-186727908	K562	blood:	n/a	n/a
27	BHLHE40	chr2:186896017-186896505	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:186678322-186678854	HepG2	liver:	n/a	n/a
29	BHLHE40	chr2:187172649-187173008	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:186929279-186929572	GM12878	blood:	n/a	n/a
31	BRCA1	chr2:186775907-186775908	GM12878	blood:	n/a	n/a
32	CBX3	chr2:186836912-186837170	K562	blood:	n/a	n/a
33	CBX3	chr2:186700648-186700857	K562	blood:	n/a	n/a
34	CCNT2	chr2:186663343-186663462	K562	blood:	n/a	n/a
35	CCNT2	chr2:186905250-186905377	K562	blood:	n/a	n/a
36	CCNT2	chr2:186966417-186966617	K562	blood:	n/a	n/a
37	CCNT2	chr2:186798987-186799212	K562	blood:	n/a	n/a
38	CCNT2	chr2:186984780-186984935	K562	blood:	n/a	n/a
39	CEBPB	chr2:186886764-186886992	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:186703330-186703591	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:187101857-187102129	A549	lung:	n/a	n/a
42	CEBPB	chr2:186678328-186678831	MCF-7	breast:	n/a	n/a
43	CEBPB	chr2:186881632-186881878	A549	lung:	n/a	chr2:186881764-186881775
44	CEBPB	chr2:186995026-186995183	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:186678456-186678731	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:186861384-186861537	HepG2	liver:	n/a	chr2:186861485-186861496
47	CEBPB	chr2:186678268-186678983	MCF-7	breast:	n/a	n/a
48	CEBPB	chr2:186863425-186863774	A549	lung:	n/a	chr2:186863590-186863601
49	CEBPB	chr2:186678455-186678798	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:186973206-186973512	K562	blood:	n/a	chr2:186973313-186973324 chr2:186973356-186973367

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187081534-187081584	MCF-7	breast:	n/a
2	chr2:187081534-187081584	MCF-7	breast:	n/a
3	chr2:186727863-186727913	PANC-1	pancreas:	n/a
4	chr2:187081534-187081584	ECC-1	luminal epithelium:	n/a
5	chr2:186968467-186968517	SK-N-SH_RA	brain:	n/a
6	chr2:186988953-186989003	IMR90	lung:	fetal
7	chr2:186968467-186968517	NT2-D1	testis:	n/a
8	chr2:186968467-186968517	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:187081534-187081584	H1-hESC	embryonic stem cell:	embryo
10	chr2:187120710-187120760	CMK	blood:	n/a
11	chr2:187081534-187081584	NB4	blood:	n/a
12	chr2:186727863-186727913	BJ	skin:	n/a
13	chr2:186727863-186727913	GM19239	blood:	n/a
14	chr2:186727863-186727913	PFSK-1	brain:	n/a
15	chr2:186727863-186727913	ECC-1	luminal epithelium:	n/a
16	chr2:186924071-186924121	GM12891	blood:	n/a
17	chr2:186988953-186989003	SK-N-MC	brain:	n/a
18	chr2:186924071-186924121	NB4	blood:	n/a
19	chr2:187120710-187120760	NB4	blood:	n/a
20	chr2:186988953-186989003	LNCaP	prostate:	n/a
21	chr2:186727863-186727913	HEEpiC	esophagus:	n/a
22	chr2:187120710-187120760	Hela-S3	cervix:	n/a
23	chr2:186727863-186727913	NHDF-neo	bronchial:	n/a
24	chr2:186924071-186924121	PANC-1	pancreas:	n/a
25	chr2:186924071-186924121	PrEC	prostate:	n/a
26	chr2:186727863-186727913	AG09319	gingival:	n/a
27	chr2:186924071-186924121	NT2-D1	testis:	n/a
28	chr2:186727863-186727913	HCF	heart:	n/a
29	chr2:187120710-187120760	U87	brain:	n/a
30	chr2:187120710-187120760	Hepatocyte	liver:	n/a
31	chr2:186968467-186968517	MCF10A-Er-Src	breast:	n/a
32	chr2:187120710-187120760	T-47D	breast:	n/a
33	chr2:187081534-187081584	GM06990	blood:	n/a
34	chr2:186988953-186989003	HCF	heart:	n/a
35	chr2:186968467-186968517	AG09309	skin:	n/a
36	chr2:186968467-186968517	AG10803	skin:	n/a
37	chr2:186968467-186968517	HRCEpiC	kidney:	n/a
38	chr2:187081534-187081584	BE2_C	brain:	n/a
39	chr2:187120710-187120760	AG04450	lung:	fetal
40	chr2:187081534-187081584	Caco-2	colon:	n/a
41	chr2:186988953-186989003	CMK	blood:	n/a
42	chr2:186968467-186968517	BE2_C	brain:	n/a
43	chr2:187081534-187081584	GM12878	blood:	n/a
44	chr2:186968467-186968517	SK-N-SH	brain:	n/a
45	chr2:186968467-186968517	HepG2	liver:	n/a
46	chr2:187120710-187120760	BJ	skin:	n/a
47	chr2:186727863-186727913	PrEC	prostate:	n/a
48	chr2:186727863-186727913	RPTEC	kidney:	n/a
49	chr2:186924071-186924121	MCF-7	breast:	n/a
50	chr2:187081534-187081584	HMEC	breast:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:186720960..186722500-chr2:186726629..186729211,2	K562	blood:
2	chr2:186720960..186722500-chr2:186726629..186729211,2	K562	blood:
3	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:
4	chr14:59949728..59952600-chr2:187172098..187173850,2	MCF-7	breast:
5	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:
6	chr2:186668006..186669704-chr2:186673363..186675121,2	MCF-7	breast:
7	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
8	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
9	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
10	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
11	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
12	chr2:186669335..186673195-chr2:186676461..186681487,4	MCF-7	breast:
13	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
14	chr2:186715733..186716239-chr20:13748197..13748697,2	MCF-7	breast:
15	chr2:186807275..186808106-chr7:110453455..110454048,2	HCT-116	colon:
16	chr2:186717272..186719201-chr2:186720753..186722385,2	K562	blood:
17	chr2:186717272..186719201-chr2:186720753..186722385,2	K562	blood:
18	chr2:186677322..186681085-chr2:186681928..186686220,4	MCF-7	breast:
19	chr2:187080091..187081693-chr2:187086828..187089165,2	K562	blood:
20	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
21	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
22	chr2:186603700..186604546-chr2:187121410..187122246,2	MCF-7	breast:
23	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
24	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
25	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
26	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
27	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
28	chr2:186771348..186773239-chr22:46970196..46972979,2	MCF-7	breast:
29	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
30	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
31	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
32	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
33	chr2:186905396..186906984-chr2:186927102..186929134,2	K562	blood:
34	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:
35	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
36	chr2:186966503..186967236-chr4:21954917..21955427,2	MCF-7	breast:
37	chr2:186650871..186652540-chr2:186657235..186659322,2	K562	blood:
38	chr2:187046232..187048383-chr2:187048758..187051703,2	MCF-7	breast:
39	chr2:186905396..186906984-chr2:186927102..186929134,2	K562	blood:
40	chr2:186676855..186679682-chr2:187312216..187314480,2	MCF-7	breast:
41	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
42	chr2:186953883..186956490-chr2:186957329..186960004,2	K562	blood:
43	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
44	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
45	chr2:186913950..186916894-chr2:186919637..186921761,2	K562	blood:
46	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
47	chr2:187121005..187121910-chr2:187323354..187324097,2	MCF-7	breast:
48	chr2:186948418..186950441-chr2:187047439..187049579,2	K562	blood:
49	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
50	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427
2	lnc-FSIP2-1	chr2:186999554-187000911	XLOC_001781
3	lnc-ZSWIM2-3	chr2:187035921-187036575	NONHSAT075981
4	lnc-ZSWIM2-10	chr2:187027676-187027972	NONHSAT075988
5	lnc-ZSWIM2-5	chr2:186652747-186652936	ENSG00000231646.1
6	lnc-ZSWIM2-3	chr2:186897872-186898529	ENSG00000237877
7	lnc-FSIP2-2	chr2:186953806-186955337	NONHSAT075985
8	lnc-FSIP2-1	chr2:187001824-187002215	XLOC_001781
9	lnc-ZSWIM2-3	chr2:186951028-186951044	NR_110218
10	lnc-ZSWIM2-3	chr2:186947881-186947950	ENSG00000237877
11	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427
12	lnc-FSIP2-4	chr2:186964372-186965726	NONHSAT075984
13	lnc-ZSWIM2-3	chr2:187006495-187007373	NONHSAT075981
14	lnc-ZSWIM2-5	chr2:186664807-186664878	ENSG00000231646.1
15	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877.2
16	lnc-ZSWIM2-3	chr2:186947881-186947960	ENSG00000237877
17	lnc-FSIP2-3	chr2:186963163-186964146	NONHSAT075986
18	lnc-ZSWIM2-12	chr2:186800286-186800551	NONHSAT075977
19	lnc-FSIP2-4	chr2:186923254-186923714	NONHSAT075984
20	lnc-ZSWIM2-3	chr2:186947881-186947960	ENSG00000237877.2
21	lnc-ZSWIM2-3	chr2:186947881-186947948	NR_110218
22	lnc-ZSWIM2-3	chr2:187126284-187126336	NONHSAT075981
23	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877
24	lnc-ZSWIM2-3	chr2:186898258-186898529	ENSG00000237877
25	lnc-ZSWIM2-3	chr2:186897618-186898529	ENSG00000237877.2
26	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
27	lnc-ZSWIM2-3	chr2:186947881-186947951	NONHSAT075981
28	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1
29	lnc-ZSWIM2-5	chr2:186664807-186664877	ENSG00000231646.1
30	lnc-ZSWIM2-3	chr2:187079525-187079817	NONHSAT075981
31	lnc-FSIP2-4	chr2:186947780-186951158	NONHSAT075984
32	lnc-ZSWIM2-3	chr2:186946057-186946143	NR_110218
33	lnc-ZSWIM2-3	chr2:186898261-186898529	NR_110218
34	lnc-ZSWIM2-3	chr2:186903058-186903162	NONHSAT075981
35	lnc-FSIP2-4	chr2:186932840-186933840	NONHSAT075984
36	lnc-ZSWIM2-3	chr2:186897623-186897908	NONHSAT075981
37	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1
38	lnc-ZSWIM2-3	chr2:186903058-186903159	ENSG00000237877
39	lnc-ZSWIM2-5	chr2:186648418-186648857	ENSG00000231646.1
40	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877
41	lnc-ZSWIM2-3	chr2:186904227-186904282	NR_110218
42	lnc-ZSWIM2-3	chr2:186903058-186903162	NR_110218
43	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
44	lnc-ZSWIM2-3	chr2:187166504-187166849	NONHSAT075981
45	lnc-ZSWIM2-3	chr2:186946057-186946143	NONHSAT075981
46	lnc-ZSWIM2-3	chr2:186904227-186904282	NONHSAT075981
47	lnc-ZSWIM2-3	chr2:186898222-186898531	NONHSAT075981
48	lnc-ZSWIM2-3	chr2:186904227-186904282	ENSG00000237877
49	lnc-FSIP2-4	chr2:186946053-186946143	NONHSAT075984
50	lnc-ZSWIM2-3	chr2:187002952-187003542	NONHSAT075981

No data

Variant related genes	Relation type
RPL21P32	TF binding region
RPL23AP35	TF binding region
ENSG00000231646	TF binding region
ENSG00000237877	TF binding region
FSIP2	TF binding region
ENSG00000226410	TF binding region
RPL21P32	CpG island
RPL23AP35	CpG island
ENSG00000231646	CpG island
ENSG00000237877	CpG island
FSIP2	CpG island
ENSG00000226410	CpG island
ENSG00000226747	chromatin interactions
ENSG00000226410	chromatin interactions
ENSG00000237877	chromatin interactions
ENSG00000188738	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000075240	chromatin interactions
ENSG00000065548	chromatin interactions
ENSG00000062716	chromatin interactions
SNAI2	miRNA target sites

Extended variants
information (count: 16620 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:16620 , 50 per page) page: 1 2 3 4 5 6 7 ... 333

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533259212	chr2:186625687-186625688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551535789	chr2:186625696-186625697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190698911	chr2:186625702-186625703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12999173	chr2:186625727-186625728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553868729	chr2:186625761-186625762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183605884	chr2:186625767-186625768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7562137	chr2:186625770-186625771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs10170781	chr2:186625880-186625881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188892408	chr2:186625971-186625972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377665362	chr2:186626017-186626018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78452491	chr2:186626025-186626026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539546442	chr2:186626072-186626073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369356096	chr2:186626092-186626093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372823897	chr2:186626096-186626097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557555724	chr2:186626152-186626153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193243370	chr2:186626206-186626207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11682752	chr2:186626289-186626290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs555311688	chr2:186626323-186626324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573622096	chr2:186626441-186626442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199806798	chr2:186626464-186626465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185398556	chr2:186626470-186626471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145984246	chr2:186626486-186626487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559839990	chr2:186626488-186626489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186665296	chr2:186626531-186626532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145376409	chr2:186626554-186626555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115046550	chr2:186626721-186626722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549124494	chr2:186626734-186626735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191166819	chr2:186626742-186626743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148418635	chr2:186626751-186626752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550454805	chr2:186626796-186626797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571908053	chr2:186626809-186626810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559111683	chr2:186626810-186626811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538852806	chr2:186626901-186626902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557860010	chr2:186626902-186626903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184032345	chr2:186626933-186626934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558001202	chr2:186626978-186626979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576355862	chr2:186627003-186627004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4667053	chr2:186627016-186627017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537424871	chr2:186627020-186627021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7566166	chr2:186627040-186627041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142564659	chr2:186627059-186627060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556036621	chr2:186627065-186627066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577443348	chr2:186627098-186627099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544861126	chr2:186627099-186627100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528596812	chr2:186627176-186627177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13033801	chr2:186627196-186627197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35895382	chr2:186627237-186627238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7607020	chr2:186627241-186627242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531014903	chr2:186627282-186627283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543059259	chr2:186627309-186627310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186606800-186632000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:186613600-186635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:186622400-186625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:186628600-186635600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:186628800-186634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:186629200-186635000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:186634800-186635200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:186634800-186637600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr2:186635000-186635200	ZNF genes & repeats	Colonic Mucosa	Colon
10	chr2:186635000-186635200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
11	chr2:186635000-186635400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr2:186635000-186636000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr2:186635000-186636600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:186635000-186636800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:186635000-186637200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:186635200-186635600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:186635200-186636600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr2:186635400-186636600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr2:186635600-186636200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:186635600-186636200	ZNF genes & repeats	Liver	Liver
21	chr2:186635600-186636400	ZNF genes & repeats	Colonic Mucosa	Colon
22	chr2:186635800-186636400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:186635800-186636400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr2:186635800-186636400	ZNF genes & repeats	Fetal Stomach	stomach
25	chr2:186636000-186637200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr2:186637200-186637400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:186637200-186640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:186637400-186638000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:186638000-186640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:186640400-186641000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:186640600-186640800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:186647000-186647400	Enhancers	HepG2	liver
33	chr2:186647000-186647800	Enhancers	Fetal Intestine Large	intestine
34	chr2:186647200-186647400	Active TSS	Aorta	Aorta
35	chr2:186647800-186648600	Weak transcription	Fetal Intestine Large	intestine
36	chr2:186648000-186648200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:186648200-186670400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:186648600-186648800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:186648600-186649400	Enhancers	Fetal Intestine Large	intestine
40	chr2:186648800-186658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:186650400-186651600	Enhancers	GM12878-XiMat	blood
42	chr2:186650400-186653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:186650600-186652400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:186651200-186651600	Enhancers	NHDF-Ad	bronchial
45	chr2:186651600-186652400	Weak transcription	NHDF-Ad	bronchial
46	chr2:186651600-186654800	Weak transcription	GM12878-XiMat	blood
47	chr2:186652000-186652600	Enhancers	NH-A	brain
48	chr2:186652000-186653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:186652000-186661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:186652200-186652600	Enhancers	HUVEC	blood vessel

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