Variant report

Variant	nsv875545
Chromosome Location	chr2:186566024-187280164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2749)
CpG islands
(count:854)
Chromatin interactive
region (count:106)
LncRNA
region (count:91)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2749 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:187243865-187244178	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:187164433-187164716	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:187062701-187063034	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:186603689-186603907	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:187173020-187173545	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:186766781-186767039	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:186678380-186678904	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:187243853-187244046	K562	blood:	n/a	n/a
9	ARID3A	chr2:187247288-187248149	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:187046339-187046834	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:187206787-187207142	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:187168763-187169293	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:186994689-186995458	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:186933182-186933390	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:186756102-186757040	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:187121356-187121642	HepG2	liver:	n/a	n/a
20	ARID3A	chr2:186973201-186973628	HepG2	liver:	n/a	n/a
21	ATF1	chr2:187243808-187244266	K562	blood:	n/a	n/a
22	ATF1	chr2:187214340-187214528	K562	blood:	n/a	n/a
23	ATF1	chr2:186693024-186693115	K562	blood:	n/a	n/a
24	ATF1	chr2:186586784-186586978	K562	blood:	n/a	n/a
25	ATF2	chr2:186603621-186603950	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr2:187263807-187264170	GM12878	blood:	n/a	n/a
27	ATF2	chr2:186603605-186603967	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:186603273-186603956	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr2:186917756-186918018	H1-hESC	embryonic stem cell:	n/a	chr2:186917846-186917860
30	BACH1	chr2:186698786-186698866	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr2:187212171-187212425	GM12878	blood:	n/a	chr2:187212330-187212340 chr2:187212329-187212340
33	BATF	chr2:186661618-186661923	GM12878	blood:	n/a	n/a
34	BATF	chr2:186650918-186651197	GM12878	blood:	n/a	chr2:186651050-186651061
35	BATF	chr2:186650911-186651150	GM12878	blood:	n/a	chr2:186651050-186651061
36	BATF	chr2:187263860-187264149	GM12878	blood:	n/a	n/a
37	BHLHE40	chr2:187168871-187169071	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:186603836-186603843	K562	blood:	n/a	n/a
39	BHLHE40	chr2:186678322-186678854	HepG2	liver:	n/a	n/a
40	BHLHE40	chr2:186603670-186603870	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:186591465-186591564	HepG2	liver:	n/a	n/a
42	BHLHE40	chr2:186727838-186727908	K562	blood:	n/a	n/a
43	BHLHE40	chr2:187172649-187173008	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:187247572-187248022	HepG2	liver:	n/a	n/a
45	BHLHE40	chr2:186678411-186678682	HepG2	liver:	n/a	n/a
46	BHLHE40	chr2:186929279-186929572	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:186678327-186678780	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:186896017-186896505	GM12878	blood:	n/a	n/a
49	BRCA1	chr2:186775907-186775908	GM12878	blood:	n/a	n/a
50	BRCA1	chr2:186603755-186603918	HepG2	liver:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187081534-187081584	GM12891	blood:	n/a
2	chr2:186924071-186924121	ovcar-3	ovarian:	n/a
3	chr2:186924071-186924121	AG04450	lung:	fetal
4	chr2:186603981-186604031	RPTEC	kidney:	n/a
5	chr2:187120710-187120760	SK-N-MC	brain:	n/a
6	chr2:187081534-187081584	SK-N-MC	brain:	n/a
7	chr2:186603561-186603611	CMK	blood:	n/a
8	chr2:186968467-186968517	LNCaP	prostate:	n/a
9	chr2:186924071-186924121	HRPEpiC	eye:	n/a
10	chr2:186601802-186601852	SK-N-SH	brain:	n/a
11	chr2:186601802-186601852	Hela-S3	cervix:	n/a
12	chr2:186609566-186609616	HCT-116	colon:	n/a
13	chr2:187120710-187120760	GM12878	blood:	n/a
14	chr2:186924071-186924121	HRCEpiC	kidney:	n/a
15	chr2:186603561-186603611	H1-hESC	embryonic stem cell:	embryo
16	chr2:186610279-186610329	IMR90	lung:	fetal
17	chr2:186603561-186603611	HRE	kidney:	n/a
18	chr2:186603639-186603689	LNCaP	prostate:	n/a
19	chr2:186988953-186989003	HEEpiC	esophagus:	n/a
20	chr2:186603398-186603448	HRPEpiC	eye:	n/a
21	chr2:187081534-187081584	SKMC	muscle:	n/a
22	chr2:186968467-186968517	HRE	kidney:	n/a
23	chr2:186601802-186601852	H1-hESC	embryonic stem cell:	embryo
24	chr2:186603398-186603448	NT2-D1	testis:	n/a
25	chr2:186603561-186603611	T-47D	breast:	n/a
26	chr2:186609566-186609616	MCF10A-Er-Src	breast:	n/a
27	chr2:186610279-186610329	BJ	skin:	n/a
28	chr2:186601802-186601852	AG09309	skin:	n/a
29	chr2:186603639-186603689	BJ	skin:	n/a
30	chr2:186727863-186727913	HCPEpiC	choroid plexus:	n/a
31	chr2:186603981-186604031	MCF-7	breast:	n/a
32	chr2:186603639-186603689	PANC-1	pancreas:	n/a
33	chr2:186603639-186603689	AG09309	skin:	n/a
34	chr2:186968467-186968517	PFSK-1	brain:	n/a
35	chr2:186968467-186968517	K562	blood:	n/a
36	chr2:186988953-186989003	HEK293	kidney:	embryo
37	chr2:186988953-186989003	HRE	kidney:	n/a
38	chr2:186603639-186603689	NH-A	brain:	n/a
39	chr2:186968467-186968517	AG04450	lung:	fetal
40	chr2:186603561-186603611	HCF	heart:	n/a
41	chr2:186924071-186924121	H1-hESC	embryonic stem cell:	embryo
42	chr2:186968467-186968517	RPTEC	kidney:	n/a
43	chr2:186601802-186601852	IMR90	lung:	fetal
44	chr2:186727863-186727913	NHDF-neo	bronchial:	n/a
45	chr2:186601802-186601852	HIPEpiC	eye:	n/a
46	chr2:186609566-186609616	HIPEpiC	eye:	n/a
47	chr2:186603441-186603491	ECC-1	luminal epithelium:	n/a
48	chr2:186610279-186610329	SK-N-SH_RA	brain:	n/a
49	chr2:186610279-186610329	Caco-2	colon:	n/a
50	chr2:187081534-187081584	SAEC	small airway:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
2	chr2:186948418..186950441-chr2:187047439..187049579,2	K562	blood:
3	chr2:186658483..186660924-chr2:186661633..186664592,2	MCF-7	breast:
4	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
5	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
6	chr2:186966503..186967236-chr4:21954917..21955427,2	MCF-7	breast:
7	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
8	chr2:186943617..186946004-chr2:186946269..186949362,3	K562	blood:
9	chr17:57913762..57915412-chr2:186861621..186864023,2	MCF-7	breast:
10	chr2:186948418..186950441-chr2:187047439..187049579,2	K562	blood:
11	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
12	chr2:187168079..187170910-chr2:187226806..187228664,2	K562	blood:
13	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
14	chr14:59949728..59952600-chr2:187172098..187173850,2	MCF-7	breast:
15	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
16	chr2:187111432..187114258-chr2:187118686..187120723,2	MCF-7	breast:
17	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
18	chr2:186669335..186673195-chr2:186676461..186681487,4	MCF-7	breast:
19	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
20	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
21	chr2:186668006..186669704-chr2:186673363..186675121,2	MCF-7	breast:
22	chr2:186614301..186616575-chr2:186619081..186620745,2	MCF-7	breast:
23	chr2:186594845..186596919-chr2:186599054..186601841,2	K562	blood:
24	chr2:186669335..186673195-chr2:186676461..186681487,4	MCF-7	breast:
25	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
26	chr2:186882755..186884529-chr2:186886544..186888768,2	K562	blood:
27	chr2:186603700..186604546-chr2:187121410..187122246,2	MCF-7	breast:
28	chr2:186913950..186916894-chr2:186919637..186921761,2	K562	blood:
29	chr2:186603423..186604198-chr2:187120988..187121931,3	MCF-7	breast:
30	chr2:186667156..186668174-chr2:186678025..186679009,3	MCF-7	breast:
31	chr2:187205041..187207847-chr2:187331696..187333365,2	K562	blood:
32	chr14:42041047..42041943-chr2:186615944..186616587,2	MCF-7	breast:
33	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
34	chr2:186597190..186601859-chr2:186602437..186604775,4	K562	blood:
35	chr2:186717272..186719201-chr2:186720753..186722385,2	K562	blood:
36	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
37	chr2:186598239..186601001-chr2:186602437..186604775,2	K562	blood:
38	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
39	chr2:186676855..186679682-chr2:187312216..187314480,2	MCF-7	breast:
40	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
41	chr2:187121005..187121910-chr2:187323354..187324097,2	MCF-7	breast:
42	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
43	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:
44	chr2:186771348..186773239-chr22:46970196..46972979,2	MCF-7	breast:
45	chr2:186588408..186592015-chr2:186593924..186596626,4	K562	blood:
46	chr2:186715733..186716239-chr20:13748197..13748697,2	MCF-7	breast:
47	chr2:187020003..187021879-chr2:187026559..187028779,2	MCF-7	breast:
48	chr2:186953883..186956490-chr2:186957329..186960004,2	K562	blood:
49	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
50	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:

(count:91 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427
2	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110216
3	lnc-FSIP2-4	chr2:186923254-186923714	NONHSAT075984
4	lnc-ZSWIM2-3	chr2:187126284-187126336	NONHSAT075981
5	lnc-ZC3H15-4	chr2:187222394-187224044	NONHSAT075990
6	lnc-ZSWIM2-6	chr2:186603634-186603820	NR_110214
7	lnc-ZSWIM2-6	chr2:186594056-186594164	NR_110216
8	lnc-ZSWIM2-3	chr2:186897618-186898529	ENSG00000237877.2
9	lnc-ZSWIM2-3	chr2:187006495-187007373	NONHSAT075981
10	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
11	lnc-ZSWIM2-3	chr2:186897872-186898529	ENSG00000237877
12	lnc-ZSWIM2-3	chr2:186898222-186898531	NONHSAT075981
13	lnc-ZSWIM2-3	chr2:187265288-187266622	NONHSAT075981
14	lnc-ZSWIM2-6	chr2:186600789-186600864	NR_110216
15	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
16	lnc-FSIP2-1	chr2:187001824-187002215	XLOC_001781
17	lnc-ZSWIM2-3	chr2:187205652-187206185	NONHSAT075981
18	lnc-ZSWIM2-6	chr2:186594009-186594164	NONHSAT075967
19	lnc-ZSWIM2-3	chr2:186904227-186904282	ENSG00000237877
20	lnc-ZSWIM2-2	chr2:187219299-187221500	ENSG00000259915.1
21	lnc-ZSWIM2-6	chr2:186603297-186603446	NR_110215
22	lnc-FSIP2-1	chr2:186999554-187000911	XLOC_001781
23	lnc-ZSWIM2-3	chr2:187035921-187036575	NONHSAT075981
24	lnc-ZSWIM2-3	chr2:186946057-186946143	NONHSAT075981
25	lnc-ZSWIM2-6	chr2:186603297-186603446	NR_110216
26	lnc-ZSWIM2-6	chr2:186584601-186585447	NR_110215
27	lnc-ZSWIM2-3	chr2:186898258-186898529	ENSG00000237877
28	lnc-ZSWIM2-3	chr2:186897623-186897908	NONHSAT075981
29	lnc-ZSWIM2-6	chr2:186594056-186594164	ENSG00000226747
30	lnc-ZSWIM2-3	chr2:187002952-187003542	NONHSAT075981
31	lnc-ZSWIM2-3	chr2:187229171-187229856	NONHSAT075981
32	lnc-ZSWIM2-6	chr2:186600789-186600930	NONHSAT075967
33	lnc-ZSWIM2-3	chr2:186951028-186951044	NR_110218
34	lnc-ZSWIM2-2	chr2:187219297-187221500	NONHSAT075989
35	lnc-FSIP2-2	chr2:186953806-186955337	NONHSAT075985
36	lnc-ZSWIM2-6	chr2:186584939-186585447	ENSG00000226747
37	lnc-ZSWIM2-5	chr2:186664807-186664877	ENSG00000231646.1
38	lnc-ZSWIM2-3	chr2:186898261-186898529	NR_110218
39	lnc-ZSWIM2-10	chr2:187027676-187027972	NONHSAT075988
40	lnc-ZSWIM2-6	chr2:186594056-186594164	NR_110217
41	lnc-FSIP2-4	chr2:186964372-186965726	NONHSAT075984
42	lnc-ZSWIM2-3	chr2:186947881-186947951	NONHSAT075981
43	lnc-ZSWIM2-5	chr2:186648418-186648857	ENSG00000231646.1
44	lnc-FSIP2-4	chr2:186932840-186933840	NONHSAT075984
45	lnc-FSIP2-3	chr2:186963163-186964146	NONHSAT075986
46	lnc-ZSWIM2-6	chr2:186605106-186605206	ENSG00000226747
47	lnc-ZSWIM2-3	chr2:187079525-187079817	NONHSAT075981
48	lnc-ZSWIM2-3	chr2:186946057-186946143	NR_110218
49	lnc-ZSWIM2-6	chr2:186603634-186603808	NONHSAT075968
50	lnc-ZSWIM2-6	chr2:186600789-186600864	ENSG00000226747

No data

Variant related genes	Relation type
RPL21P32	TF binding region
MED28P3	TF binding region
RPL23AP35	TF binding region
ENSG00000231646	TF binding region
ENSG00000237877	TF binding region
FSIP2	TF binding region
ENSG00000259915	TF binding region
ENSG00000226747	TF binding region
ENSG00000226410	TF binding region
RPL21P32	CpG island
MED28P3	CpG island
RPL23AP35	CpG island
ENSG00000231646	CpG island
ENSG00000237877	CpG island
FSIP2	CpG island
ENSG00000259915	CpG island
ENSG00000226747	CpG island
ENSG00000226410	CpG island
ENSG00000227692	chromatin interactions
ENSG00000075240	chromatin interactions
ENSG00000237877	chromatin interactions
ENSG00000178209	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000226410	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000188738	chromatin interactions
ENSG00000065548	chromatin interactions
ENSG00000226747	chromatin interactions
SNAI2	miRNA target sites

Extended variants
information (count: 20864 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20864 , 50 per page) page: 1 2 3 4 5 6 7 ... 418

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10803992	chr2:186566024-186566025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573841144	chr2:186566031-186566032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181889121	chr2:186566094-186566095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532871278	chr2:186566095-186566096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10803993	chr2:186566115-186566116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs376533161	chr2:186566141-186566142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150139171	chr2:186566147-186566148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533287956	chr2:186566251-186566252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377041151	chr2:186566283-186566284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186297364	chr2:186566299-186566300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575993005	chr2:186566316-186566317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529154648	chr2:186566378-186566379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544464971	chr2:186566393-186566394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189850416	chr2:186566397-186566398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138611118	chr2:186566402-186566403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10190576	chr2:186566595-186566596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs545070417	chr2:186566598-186566599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182159385	chr2:186566633-186566634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559470826	chr2:186566676-186566677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527698014	chr2:186566708-186566709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549315139	chr2:186566736-186566737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563381342	chr2:186566758-186566759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567668418	chr2:186566779-186566780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527581771	chr2:186566781-186566782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186615789	chr2:186566794-186566795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149365210	chr2:186566815-186566816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577859786	chr2:186566819-186566820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11686062	chr2:186566886-186566887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539196438	chr2:186566901-186566902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367952750	chr2:186566926-186566927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549017833	chr2:186566927-186566928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370675888	chr2:186567036-186567037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386653486	chr2:186567103-186567104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557584163	chr2:186567115-186567116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572855467	chr2:186567134-186567135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138185772	chr2:186567243-186567244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142748532	chr2:186567294-186567295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368948108	chr2:186567313-186567314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1468955	chr2:186567341-186567342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1468954	chr2:186567381-186567382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60053875	chr2:186567463-186567464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533000607	chr2:186567468-186567469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367767621	chr2:186567495-186567496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5836953	chr2:186567557-186567558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191112312	chr2:186567560-186567561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397871294	chr2:186567561-186567562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545151969	chr2:186567607-186567608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75012160	chr2:186567664-186567665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539353212	chr2:186567731-186567732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183777830	chr2:186567737-186567738	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:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186565600-186566200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:186565600-186603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:186570000-186570400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:186574400-186574600	Enhancers	Brain Germinal Matrix	brain
5	chr2:186574400-186574600	Enhancers	Left Ventricle	heart
6	chr2:186574800-186575800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:186575800-186576200	Enhancers	Brain Germinal Matrix	brain
8	chr2:186581600-186582000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:186582000-186583200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:186583400-186583600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:186588800-186589000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:186591000-186591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:186599400-186599600	Enhancers	HMEC	breast
14	chr2:186600800-186601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:186600800-186603000	Weak transcription	HMEC	breast
16	chr2:186601000-186601600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:186601000-186602000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:186601200-186601400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:186601200-186601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:186601200-186601600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:186601400-186603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:186601600-186603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:186602000-186603000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:186602600-186602800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:186602800-186603000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:186602800-186603000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:186602800-186603000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:186602800-186603200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:186602800-186603200	Enhancers	Pancreas	Pancrea
30	chr2:186602800-186603400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr2:186602800-186604000	Active TSS	Right Ventricle	heart
32	chr2:186602800-186604400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:186603000-186603200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr2:186603000-186603200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:186603000-186603200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:186603000-186603200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:186603000-186603200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:186603000-186603200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:186603000-186603200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr2:186603000-186603200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:186603000-186603200	Active TSS	Adipose Nuclei	Adipose
42	chr2:186603000-186603200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr2:186603000-186603200	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr2:186603000-186603200	Enhancers	Placenta	Placenta
45	chr2:186603000-186603200	Enhancers	Psoas Muscle	Psoas
46	chr2:186603000-186603200	Enhancers	HMEC	breast
47	chr2:186603000-186603400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:186603000-186603400	Enhancers	Gastric	stomach
49	chr2:186603000-186603400	Flanking Active TSS	HUVEC	blood vessel
50	chr2:186603000-186603800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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