Variant report

Variant	nsv932296
Chromosome Location	chr2:186737443-187265790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1947)
CpG islands
(count:306)
Chromatin interactive
region (count:69)
LncRNA
region (count:53)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1947 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

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	chr2:186994689-186995458	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:187121356-187121642	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:186973201-186973628	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:186756102-186757040	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:186933182-186933390	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:187164433-187164716	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:187173020-187173545	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:187247288-187248149	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:187243865-187244178	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:186766781-186767039	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:187206787-187207142	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:187046339-187046834	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:187243853-187244046	K562	blood:	n/a	n/a
18	ARID3A	chr2:187168763-187169293	HepG2	liver:	n/a	n/a
19	ATF1	chr2:187243808-187244266	K562	blood:	n/a	n/a
20	ATF1	chr2:187214340-187214528	K562	blood:	n/a	n/a
21	ATF2	chr2:187263807-187264170	GM12878	blood:	n/a	n/a
22	BACH1	chr2:186917756-186918018	H1-hESC	embryonic stem cell:	n/a	chr2:186917846-186917860
23	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr2:187263860-187264149	GM12878	blood:	n/a	n/a
25	BATF	chr2:187212171-187212425	GM12878	blood:	n/a	chr2:187212330-187212340 chr2:187212329-187212340
26	BHLHE40	chr2:187168871-187169071	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:187247572-187248022	HepG2	liver:	n/a	n/a
28	BHLHE40	chr2:187172649-187173008	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:186896017-186896505	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	chr2:187214226-187214609	HCT-116	colon:	n/a	n/a
34	CCNT2	chr2:186905250-186905377	K562	blood:	n/a	n/a
35	CCNT2	chr2:186984780-186984935	K562	blood:	n/a	n/a
36	CCNT2	chr2:186798987-186799212	K562	blood:	n/a	n/a
37	CCNT2	chr2:186966417-186966617	K562	blood:	n/a	n/a
38	CEBPB	chr2:186918854-186919223	HepG2	liver:	n/a	chr2:186919035-186919044 chr2:186919033-186919044 chr2:186919034-186919045
39	CEBPB	chr2:187197140-187197143	A549	lung:	n/a	n/a
40	CEBPB	chr2:187243854-187244196	K562	blood:	n/a	n/a
41	CEBPB	chr2:186819149-186819471	A549	lung:	n/a	chr2:186819279-186819290
42	CEBPB	chr2:186886854-186887053	A549	lung:	n/a	n/a
43	CEBPB	chr2:187247731-187248003	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:186819132-186819491	HepG2	liver:	n/a	chr2:186819279-186819290
45	CEBPB	chr2:187119718-187119844	HepG2	liver:	n/a	chr2:187119776-187119787
46	CEBPB	chr2:187173018-187173453	HCT-116	colon:	n/a	n/a
47	CEBPB	chr2:186812025-186812311	HepG2	liver:	n/a	chr2:186812055-186812066
48	CEBPB	chr2:186995329-186995732	ECC-1	luminal epithelium:	n/a	chr2:186995442-186995455 chr2:186995444-186995455 chr2:186995444-186995455 chr2:186995442-186995455
49	CEBPB	chr2:186888229-186888431	HepG2	liver:	n/a	chr2:186888282-186888293 chr2:186888300-186888311
50	CEBPB	chr2:187101857-187102129	A549	lung:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:186968467-186968517	ovcar-3	ovarian:	n/a
2	chr2:186968467-186968517	ovcar-3	ovarian:	n/a
3	chr2:186968467-186968517	A549	lung:	n/a
4	chr2:186924071-186924121	HepG2	liver:	n/a
5	chr2:186988953-186989003	PFSK-1	brain:	n/a
6	chr2:186924071-186924121	SKMC	muscle:	n/a
7	chr2:187120710-187120760	HUVEC	blood vessel:	n/a
8	chr2:187081534-187081584	AG04449	skin:	fetal
9	chr2:187120710-187120760	NB4	blood:	n/a
10	chr2:187081534-187081584	PrEC	prostate:	n/a
11	chr2:187120710-187120760	HNPCEpiC	eye:	n/a
12	chr2:186988953-186989003	IMR90	lung:	fetal
13	chr2:186968467-186968517	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:186968467-186968517	AG04449	skin:	fetal
15	chr2:186968467-186968517	BJ	skin:	n/a
16	chr2:187081534-187081584	Hela-S3	cervix:	n/a
17	chr2:186968467-186968517	NB4	blood:	n/a
18	chr2:187081534-187081584	BE2_C	brain:	n/a
19	chr2:186924071-186924121	HRCEpiC	kidney:	n/a
20	chr2:187120710-187120760	HRCEpiC	kidney:	n/a
21	chr2:186988953-186989003	HCF	heart:	n/a
22	chr2:186988953-186989003	Hepatocyte	liver:	n/a
23	chr2:187081534-187081584	BJ	skin:	n/a
24	chr2:186968467-186968517	HMEC	breast:	n/a
25	chr2:187120710-187120760	GM06990	blood:	n/a
26	chr2:186924071-186924121	HCF	heart:	n/a
27	chr2:186968467-186968517	SKMC	muscle:	n/a
28	chr2:186924071-186924121	Hepatocyte	liver:	n/a
29	chr2:186924071-186924121	RPTEC	kidney:	n/a
30	chr2:187081534-187081584	HIPEpiC	eye:	n/a
31	chr2:186924071-186924121	K562	blood:	n/a
32	chr2:186924071-186924121	AG10803	skin:	n/a
33	chr2:186924071-186924121	NHDF-neo	bronchial:	n/a
34	chr2:186988953-186989003	BJ	skin:	n/a
35	chr2:187120710-187120760	NHDF-neo	bronchial:	n/a
36	chr2:187120710-187120760	H1-hESC	embryonic stem cell:	embryo
37	chr2:186968467-186968517	RPTEC	kidney:	n/a
38	chr2:186988953-186989003	ECC-1	luminal epithelium:	n/a
39	chr2:186968467-186968517	U87	brain:	n/a
40	chr2:187120710-187120760	AG10803	skin:	n/a
41	chr2:186968467-186968517	HRCEpiC	kidney:	n/a
42	chr2:187081534-187081584	Caco-2	colon:	n/a
43	chr2:187120710-187120760	BJ	skin:	n/a
44	chr2:186924071-186924121	HEEpiC	esophagus:	n/a
45	chr2:187120710-187120760	AG09309	skin:	n/a
46	chr2:187081534-187081584	U87	brain:	n/a
47	chr2:187120710-187120760	HCPEpiC	choroid plexus:	n/a
48	chr2:187081534-187081584	MCF10A-Er-Src	breast:	n/a
49	chr2:186968467-186968517	MCF-7	breast:	n/a
50	chr2:186988953-186989003	AG09319	gingival:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
2	chr2:187046232..187048383-chr2:187048758..187051703,2	MCF-7	breast:
3	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
4	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
5	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:
6	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:
7	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
8	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
9	chr2:187121005..187121910-chr2:187323354..187324097,2	MCF-7	breast:
10	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
11	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
12	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
13	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:
14	chr2:186905396..186906984-chr2:186927102..186929134,2	K562	blood:
15	chr2:186913950..186916894-chr2:186919637..186921761,2	K562	blood:
16	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
17	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
18	chr2:186966503..186967236-chr4:21954917..21955427,2	MCF-7	breast:
19	chr2:187224692..187226371-chr2:187226944..187229752,2	K562	blood:
20	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
21	chr2:187080091..187081693-chr2:187086828..187089165,2	K562	blood:
22	chr2:186948418..186950441-chr2:187047439..187049579,2	K562	blood:
23	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
24	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
25	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
26	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
27	chr2:43453747..43454591-chr2:186974749..186975692,2	HCT-116	colon:
28	chr2:186898326..186901023-chr2:187349730..187351831,2	K562	blood:
29	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
30	chr2:186771348..186773239-chr22:46970196..46972979,2	MCF-7	breast:
31	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
32	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
33	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
34	chr2:187247609..187249365-chr2:187349297..187352052,2	K562	blood:
35	chr2:187077199..187079062-chr2:187349198..187350991,2	K562	blood:
36	chr17:57913762..57915412-chr2:186861621..186864023,2	MCF-7	breast:
37	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
38	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
39	chr2:187046232..187048383-chr2:187048758..187051703,2	MCF-7	breast:
40	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
41	chr2:186603423..186604198-chr2:187120988..187121931,3	MCF-7	breast:
42	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
43	chr2:187205041..187207847-chr2:187331696..187333365,2	K562	blood:
44	chr2:186603700..186604546-chr2:187121410..187122246,2	MCF-7	breast:
45	chr14:59949728..59952600-chr2:187172098..187173850,2	MCF-7	breast:
46	chr2:187219578..187221078-chr21:16109986..16111626,2	K562	blood:
47	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
48	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
49	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
50	chr2:186493563..186494107-chr2:187121512..187122407,2	MCF-7	breast:

(count:53 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-12	chr2:186800286-186800551	NONHSAT075977
2	lnc-ZSWIM2-3	chr2:187205652-187206185	NONHSAT075981
3	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877
4	lnc-ZSWIM2-3	chr2:187006495-187007373	NONHSAT075981
5	lnc-ZC3H15-4	chr2:187222394-187224044	NONHSAT075990
6	lnc-FSIP2-1	chr2:187001824-187002215	XLOC_001781
7	lnc-FSIP2-2	chr2:186953806-186955337	NONHSAT075985
8	lnc-ZSWIM2-3	chr2:187228431-187229856	NONHSAT075991
9	lnc-ZSWIM2-3	chr2:187035921-187036575	NONHSAT075981
10	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877
11	lnc-ZSWIM2-3	chr2:186897872-186898529	ENSG00000237877
12	lnc-ZSWIM2-10	chr2:187027676-187027972	NONHSAT075988
13	lnc-ZSWIM2-3	chr2:186946057-186946143	ENSG00000237877.2
14	lnc-ZSWIM2-9	chr2:187257285-187257647	NONHSAT075993
15	lnc-ZSWIM2-3	chr2:186898222-186898531	NONHSAT075981
16	lnc-ZSWIM2-3	chr2:187229171-187229856	NONHSAT075981
17	lnc-FSIP2-1	chr2:186999554-187000911	XLOC_001781
18	lnc-ZSWIM2-3	chr2:186946057-186946143	NONHSAT075981
19	lnc-ZSWIM2-3	chr2:187249030-187249978	NONHSAT075981
20	lnc-ZSWIM2-3	chr2:186898261-186898529	NR_110218
21	lnc-ZSWIM2-3	chr2:187079525-187079817	NONHSAT075981
22	lnc-ZSWIM2-3	chr2:186947881-186947950	ENSG00000237877
23	lnc-ZSWIM2-3	chr2:187002952-187003542	NONHSAT075981
24	lnc-ZSWIM2-3	chr2:187126284-187126336	NONHSAT075981
25	lnc-ZSWIM2-3	chr2:186898258-186898529	ENSG00000237877
26	lnc-ZSWIM2-3	chr2:186903058-186903159	ENSG00000237877
27	lnc-ZSWIM2-3	chr2:186904227-186904282	NR_110218
28	lnc-FSIP2-3	chr2:186963163-186964146	NONHSAT075986
29	lnc-ZSWIM2-3	chr2:186947881-186947951	NONHSAT075981
30	lnc-ZSWIM2-2	chr2:187219297-187221500	NONHSAT075989
31	lnc-ZSWIM2-3	chr2:186947881-186947960	ENSG00000237877
32	lnc-FSIP2-4	chr2:186946053-186946143	NONHSAT075984
33	lnc-ZSWIM2-3	chr2:186903058-186903162	NR_110218
34	lnc-ZSWIM2-3	chr2:187265288-187266622	NONHSAT075981
35	lnc-ZSWIM2-3	chr2:186904227-186904282	ENSG00000237877
36	lnc-ZSWIM2-3	chr2:186947881-186947948	NR_110218
37	lnc-FSIP2-4	chr2:186964372-186965726	NONHSAT075984
38	lnc-ZSWIM2-3	chr2:186897618-186898529	ENSG00000237877.2
39	lnc-ZSWIM2-3	chr2:186903058-186903162	NONHSAT075981
40	lnc-ZSWIM2-3	chr2:186897623-186897908	NONHSAT075981
41	lnc-FSIP2-4	chr2:186923254-186923714	NONHSAT075984
42	lnc-FSIP2-4	chr2:186932840-186933840	NONHSAT075984
43	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427
44	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
45	lnc-ZSWIM2-3	chr2:186904227-186904282	NONHSAT075981
46	lnc-ZSWIM2-3	chr2:186951028-186951044	NR_110218
47	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
48	lnc-ZSWIM2-3	chr2:187166504-187166849	NONHSAT075981
49	lnc-ZSWIM2-3	chr2:186947881-186947960	ENSG00000237877.2
50	lnc-ZSWIM2-3	chr2:186946057-186946143	NR_110218

No data

Variant related genes	Relation type
RPL23AP35	TF binding region
ENSG00000237877	TF binding region
RPL21P32	TF binding region
MED28P3	TF binding region
ENSG00000259915	TF binding region
ENSG00000226410	TF binding region
RPL23AP35	CpG island
ENSG00000237877	CpG island
RPL21P32	CpG island
MED28P3	CpG island
ENSG00000259915	CpG island
ENSG00000226410	CpG island
ENSG00000227692	chromatin interactions
ENSG00000226747	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000188738	chromatin interactions
ENSG00000075240	chromatin interactions
ENSG00000237877	chromatin interactions
ENSG00000065548	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000226410	chromatin interactions
SNAI2	miRNA target sites

Extended variants
information (count: 16271 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:16271 , 50 per page) page: 1 2 3 4 5 6 7 ... 326

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12988992	chr2:186737455-186737456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533621460	chr2:186737456-186737457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548977686	chr2:186737499-186737500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201183415	chr2:186737539-186737540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578206938	chr2:186737676-186737677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367805671	chr2:186737769-186737770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12328805	chr2:186737859-186737860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140688259	chr2:186737891-186737892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72902001	chr2:186737944-186737945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149673679	chr2:186737962-186737963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553640136	chr2:186737982-186737983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572524500	chr2:186738025-186738026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34327406	chr2:186738126-186738127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576121871	chr2:186738212-186738213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543365518	chr2:186738213-186738214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542722561	chr2:186738226-186738227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189003139	chr2:186738328-186738329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192502482	chr2:186738353-186738354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561630781	chr2:186738395-186738396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544176262	chr2:186738441-186738442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530558763	chr2:186738442-186738443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565584887	chr2:186738507-186738508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182785135	chr2:186738517-186738518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147849259	chr2:186738540-186738541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79873828	chr2:186738545-186738546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186489403	chr2:186738551-186738552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548781838	chr2:186738725-186738726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12478116	chr2:186738768-186738769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78501301	chr2:186738773-186738774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549326619	chr2:186738797-186738798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571212426	chr2:186738848-186738849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538518290	chr2:186738853-186738854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191684976	chr2:186738863-186738864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559154616	chr2:186738872-186738873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11677177	chr2:186739011-186739012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs536783306	chr2:186739021-186739022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554765426	chr2:186739031-186739032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10195609	chr2:186739050-186739051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543839494	chr2:186739079-186739080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146971314	chr2:186739190-186739191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577625677	chr2:186739220-186739221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541345845	chr2:186739269-186739270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376169730	chr2:186739274-186739275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371353297	chr2:186739319-186739320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542746561	chr2:186739339-186739340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12474127	chr2:186739361-186739362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79860038	chr2:186739379-186739380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79344626	chr2:186739419-186739420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13029291	chr2:186739429-186739430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370060780	chr2:186739459-186739460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186716800-186767200	Weak transcription	Ovary	ovary
2	chr2:186739800-186740200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:186740000-186740600	Enhancers	Fetal Brain Female	brain
4	chr2:186740200-186740600	Enhancers	Fetal Brain Male	brain
5	chr2:186742600-186743200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:186744800-186745200	Enhancers	HepG2	liver
7	chr2:186745600-186756600	Weak transcription	Left Ventricle	heart
8	chr2:186755200-186757800	Enhancers	HepG2	liver
9	chr2:186755400-186759600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:186756200-186758600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:186756600-186756800	Enhancers	Left Ventricle	heart
12	chr2:186756600-186757600	Enhancers	HSMMtube	muscle
13	chr2:186756800-186757000	Weak transcription	Left Ventricle	heart
14	chr2:186757200-186757800	Enhancers	Fetal Heart	heart
15	chr2:186757800-186760800	Weak transcription	HepG2	liver
16	chr2:186760800-186761600	Enhancers	HepG2	liver
17	chr2:186764200-186764800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:186764400-186764600	Enhancers	Psoas Muscle	Psoas
19	chr2:186764400-186764800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:186764600-186767600	Weak transcription	Psoas Muscle	Psoas
21	chr2:186764800-186770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:186765400-186765800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:186765400-186766200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:186765400-186766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:186767600-186767800	Enhancers	Psoas Muscle	Psoas
26	chr2:186767600-186768000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:186769800-186770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:186770000-186770200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:186770000-186770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:186784200-186809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:186785600-186786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:186785600-186786400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:186785600-186786400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:186785800-186786200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:186785800-186786400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:186786400-186789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:186789400-186789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:186791400-186791600	ZNF genes & repeats	Pancreas	Pancrea
39	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea
40	chr2:186806600-186807600	Weak transcription	Left Ventricle	heart
41	chr2:186806800-186809400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:186807200-186810400	ZNF genes & repeats	Liver	Liver
43	chr2:186807600-186809000	ZNF genes & repeats	Left Ventricle	heart
44	chr2:186808200-186808400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr2:186808600-186809000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:186808800-186809200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr2:186808800-186809600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:186809000-186815200	Weak transcription	Left Ventricle	heart
49	chr2:186809200-186813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:186809400-186809800	ZNF genes & repeats	Fetal Intestine Large	intestine

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