Variant report

Variant	nsv535684
Chromosome Location	chr2:48796170-49443587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3129)
CpG islands
(count:3544)
Chromatin interactive
region (count:116)
LncRNA
region (count:15)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:3129 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48827388-48827716	K562	blood:	n/a	chr2:48827687-48827703
2	ARID3A	chr2:48832723-48833286	K562	blood:	n/a	n/a
3	ARID3A	chr2:48800039-48800306	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48816377-48816687	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:48816337-48816665	K562	blood:	n/a	n/a
6	ARID3A	chr2:49173731-49173967	K562	blood:	n/a	n/a
7	ARID3A	chr2:49173646-49173953	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:48834779-48835112	K562	blood:	n/a	n/a
9	ARID3A	chr2:49154095-49154817	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:48850023-48850151	K562	blood:	n/a	n/a
11	ATF1	chr2:48930875-48931104	K562	blood:	n/a	n/a
12	ATF1	chr2:48904722-48905003	K562	blood:	n/a	n/a
13	ATF1	chr2:48878247-48878500	K562	blood:	n/a	n/a
14	ATF1	chr2:48832810-48833265	K562	blood:	n/a	n/a
15	ATF2	chr2:48812780-48813200	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr2:49173687-49173977	GM12878	blood:	n/a	n/a
17	ATF3	chr2:48834690-48835094	K562	blood:	n/a	n/a
18	ATF3	chr2:48832914-48833249	K562	blood:	n/a	n/a
19	BACH1	chr2:49367907-49368045	K562	blood:	n/a	n/a
20	BACH1	chr2:49164205-49164317	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr2:48953356-48953556	K562	blood:	n/a	n/a
22	BATF	chr2:49368436-49368647	GM12878	blood:	n/a	chr2:49368533-49368544
23	BATF	chr2:48977026-48977296	GM12878	blood:	n/a	chr2:48977147-48977158 chr2:48977148-48977158
24	BATF	chr2:48976989-48977239	GM12878	blood:	n/a	chr2:48977147-48977158 chr2:48977148-48977158
25	BATF	chr2:49255280-49255569	GM12878	blood:	n/a	n/a
26	BATF	chr2:49255320-49255581	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:49307852-49308039	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL11A	chr2:49255252-49255620	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:49356233-49356526	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:49255222-49255584	GM12878	blood:	n/a	n/a
31	BCL3	chr2:49032320-49032504	GM12878	blood:	n/a	n/a
32	BCL3	chr2:49168897-49169140	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:48834871-48834971	K562	blood:	n/a	n/a
34	BHLHE40	chr2:49437340-49437444	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:48874042-48874175	K562	blood:	n/a	n/a
36	BHLHE40	chr2:49014802-49015192	K562	blood:	n/a	chr2:49014897-49014918 chr2:49014902-49014911 chr2:49014901-49014914 chr2:49014903-49014912 chr2:49014903-49014912
37	BHLHE40	chr2:49173756-49173890	K562	blood:	n/a	n/a
38	BHLHE40	chr2:48827501-48827675	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:49255201-49255748	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:48832874-48833229	K562	blood:	n/a	n/a
41	BHLHE40	chr2:48942448-48942774	K562	blood:	n/a	n/a
42	BRCA1	chr2:49348882-49348887	GM12878	blood:	n/a	n/a
43	BRCA1	chr2:49307903-49308246	H1-hESC	embryonic stem cell:	n/a	n/a
44	CBX3	chr2:48832720-48833279	K562	blood:	n/a	n/a
45	CBX3	chr2:48934682-48934922	K562	blood:	n/a	n/a
46	CBX3	chr2:48834298-48835187	HCT-116	colon:	n/a	n/a
47	CBX3	chr2:48832078-48833351	K562	blood:	n/a	n/a
48	CBX3	chr2:48840504-48840934	K562	blood:	n/a	n/a
49	CBX3	chr2:48834627-48835227	K562	blood:	n/a	n/a
50	CBX3	chr2:48834288-48835170	HCT-116	colon:	n/a	n/a

(count:3544 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48806774-48806824	HCT-116	colon:	n/a
2	chr2:48842430-48842480	SK-N-SH_RA	brain:	n/a
3	chr2:48844916-48844966	Jurkat	blood:	n/a
4	chr2:49271470-49271520	IMR90	lung:	fetal
5	chr2:48800297-48800347	SK-N-MC	brain:	n/a
6	chr2:48982754-48982804	AoSMC	blood vessel:	n/a
7	chr2:48806774-48806824	HCT-116	colon:	n/a
8	chr2:48842430-48842480	SK-N-SH_RA	brain:	n/a
9	chr2:48844916-48844966	Jurkat	blood:	n/a
10	chr2:49271470-49271520	IMR90	lung:	fetal
11	chr2:48800297-48800347	SK-N-MC	brain:	n/a
12	chr2:48982754-48982804	AoSMC	blood vessel:	n/a
13	chr2:48982683-48982733	NB4	blood:	n/a
14	chr2:48950153-48950203	NHBE	bronchial:	n/a
15	chr2:49037725-49037775	PANC-1	pancreas:	n/a
16	chr2:49115406-49115456	GM12891	blood:	n/a
17	chr2:48809499-48809549	T-47D	breast:	n/a
18	chr2:49143334-49143384	SK-N-MC	brain:	n/a
19	chr2:49271470-49271520	K562	blood:	n/a
20	chr2:49382159-49382209	HRPEpiC	eye:	n/a
21	chr2:48982957-48983007	HNPCEpiC	eye:	n/a
22	chr2:48920986-48921036	Hepatocyte	liver:	n/a
23	chr2:48844728-48844778	ECC-1	luminal epithelium:	n/a
24	chr2:48977089-48977139	MCF-7	breast:	n/a
25	chr2:49115406-49115456	T-47D	breast:	n/a
26	chr2:48950153-48950203	HEK293	kidney:	embryo
27	chr2:49382159-49382209	U87	brain:	n/a
28	chr2:48813184-48813234	Hela-S3	cervix:	n/a
29	chr2:48983189-48983239	PFSK-1	brain:	n/a
30	chr2:49089947-49089997	CMK	blood:	n/a
31	chr2:49380959-49381009	HMEC	breast:	n/a
32	chr2:48980605-48980655	GM12892	blood:	n/a
33	chr2:48848421-48848471	SK-N-SH	brain:	n/a
34	chr2:48962273-48962323	Caco-2	colon:	n/a
35	chr2:48983178-48983228	H1-hESC	embryonic stem cell:	embryo
36	chr2:48982957-48983007	HCM	heart:	n/a
37	chr2:48842061-48842111	K562	blood:	n/a
38	chr2:48842430-48842480	HIPEpiC	eye:	n/a
39	chr2:48806774-48806824	GM12891	blood:	n/a
40	chr2:48828358-48828408	MCF-7	breast:	n/a
41	chr2:48927520-48927570	T-47D	breast:	n/a
42	chr2:48828358-48828408	HCM	heart:	n/a
43	chr2:48983178-48983228	AG04449	skin:	fetal
44	chr2:49143534-49143584	GM12892	blood:	n/a
45	chr2:48956876-48956926	NH-A	brain:	n/a
46	chr2:48982754-48982804	Hepatocyte	liver:	n/a
47	chr2:48844763-48844813	GM12892	blood:	n/a
48	chr2:48796151-48796201	AG10803	skin:	n/a
49	chr2:48796213-48796263	HEEpiC	esophagus:	n/a
50	chr2:49271470-49271520	CMK	blood:	n/a

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
2	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
3	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:
4	chr2:48947110..48949799-chr2:48950949..48954085,3	K562	blood:
5	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
6	chr2:49080769..49083086-chr2:49086686..49089047,2	MCF-7	breast:
7	chr2:48826097..48828718-chr2:49093582..49095780,2	K562	blood:
8	chr2:48918966..48921288-chr2:48922320..48925277,2	K562	blood:
9	chr2:49009264..49011801-chr2:49015723..49017934,2	K562	blood:
10	chr2:48901897..48904285-chr2:48937962..48940671,2	K562	blood:
11	chr2:48827557..48828940-chr2:49173265..49174447,4	MCF-7	breast:
12	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:
13	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
14	chr2:48793447..48794436-chr2:48816095..48816687,2	K562	blood:
15	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:
16	chr2:48904136..48905986-chr2:48910089..48911674,2	K562	blood:
17	chr2:49013902..49015709-chr2:49018982..49021031,2	MCF-7	breast:
18	chr2:49022010..49024033-chr2:49025700..49028628,2	MCF-7	breast:
19	chr2:49022703..49025373-chr2:49029077..49031757,2	K562	blood:
20	chr2:49067039..49069722-chr2:49070584..49073190,2	K562	blood:
21	chr2:49067039..49069722-chr2:49070584..49073190,2	K562	blood:
22	chr2:48772382..48773067-chr2:48815926..48816979,3	K562	blood:
23	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
24	chr2:48955353..48957599-chr2:48959365..48961603,2	MCF-7	breast:
25	chr2:49001281..49003714-chr2:49013829..49016593,2	MCF-7	breast:
26	chr2:48974519..48977429-chr2:49021339..49023541,3	MCF-7	breast:
27	chr2:49001281..49003714-chr2:49013829..49016593,2	MCF-7	breast:
28	chr2:49173374..49174210-chr2:49199575..49200403,3	MCF-7	breast:
29	chr2:49226004..49228152-chr2:49232900..49234588,2	MCF-7	breast:
30	chr2:49081319..49083197-chr2:49107259..49109037,2	MCF-7	breast:
31	chr2:49260442..49262914-chr2:49263129..49265285,2	K562	blood:
32	chr2:48338188..48338961-chr2:48816027..48816580,2	MCF-7	breast:
33	chr2:49108913..49110824-chr2:49114186..49115949,2	MCF-7	breast:
34	chr2:49182201..49184078-chr2:49187654..49190318,2	K562	blood:
35	chr2:49013902..49015709-chr2:49018982..49021031,2	MCF-7	breast:
36	chr2:49009264..49011801-chr2:49015723..49017934,2	K562	blood:
37	chr2:49186669..49188869-chr2:49189204..49191153,2	K562	blood:
38	chr2:48947110..48950890-chr2:48950949..48954085,5	K562	blood:
39	chr2:48822120..48826399-chr2:48830586..48834373,3	K562	blood:
40	chr2:49139634..49141993-chr2:49154425..49156573,2	K562	blood:
41	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:
42	chr2:48899103..48900749-chr2:48945263..48947505,2	MCF-7	breast:
43	chr2:48899103..48900749-chr2:48945263..48947505,2	MCF-7	breast:
44	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:
45	chr2:48999248..49001151-chr2:49005817..49007836,2	K562	blood:
46	chr2:48938808..48941243-chr2:48942125..48945142,3	K562	blood:
47	chr2:48764687..48766642-chr2:48801802..48803658,2	MCF-7	breast:
48	chr2:49173523..49174048-chr2:50629252..50630106,2	MCF-7	breast:
49	chr2:48976168..48977940-chr2:48995594..48997620,2	MCF-7	breast:
50	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-GTF2A1L-1	chr2:48996106-48996213	XLOC_001466
2	lnc-STON1-GTF2A1L-3	chr2:49437434-49437440	NONHSAT070638
3	lnc-LHCGR-1	chr2:48873569-48873753	NONHSAT070627
4	lnc-STON1-GTF2A1L-1	chr2:48996106-48996213	XLOC_001466
5	lnc-LHCGR-1	chr2:48874168-48874258	NONHSAT070627
6	lnc-STON1-GTF2A1L-1	chr2:48996093-48996260	NONHSAT070630
7	lnc-STON1-GTF2A1L-1	chr2:49003419-49003620	NONHSAT070630
8	lnc-LHCGR-1	chr2:48859428-48860260	NONHSAT070627
9	lnc-STON1-GTF2A1L-1	chr2:49003422-49003658	XLOC_001466
10	lnc-STON1-GTF2A1L-1	chr2:49003419-49003658	XLOC_001466
11	lnc-LHCGR-1	chr2:48895709-48895804	NONHSAT070627
12	lnc-LHCGR-1	chr2:48859995-48860492	NONHSAT070628
13	lnc-STON1-GTF2A1L-3	chr2:49436966-49437234	NONHSAT070638
14	lnc-FSHR-1	chr2:49179431-49179679	NONHSAT070635
15	lnc-STON1-GTF2A1L-2	chr2:49007741-49008034	NONHSAT070633

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ba	chr2:49286742-49286763	MIMAT0031175

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LHCGR	hsa-miR-148b-3p	chr2:48914407-48914429

Variant related genes	Relation type
FSHR	TF binding region
STON1	TF binding region
GTF2A1L	TF binding region
CTBP2P5	TF binding region
TCEB2P3	TF binding region
TPT1P11	TF binding region
LHCGR	TF binding region
STON1-GTF2A1L	TF binding region
FSHR	CpG island
STON1	CpG island
GTF2A1L	CpG island
CTBP2P5	CpG island
TCEB2P3	CpG island
TPT1P11	CpG island
LHCGR	CpG island
STON1-GTF2A1L	CpG island
ENSG00000242441	chromatin interactions
ENSG00000243244	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000138039	chromatin interactions
ENSG00000170820	chromatin interactions
ENSG00000232285	chromatin interactions
ENSG00000068781	chromatin interactions
RNF219	miRNA target sites

Extended variants
information (count: 23220 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:23220 , 50 per page) page: 1 2 3 4 5 6 7 ... 465

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527835694	chr2:48796170-48796171	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375192631	chr2:48796189-48796190	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531590368	chr2:48796217-48796218	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187588443	chr2:48796218-48796219	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140216510	chr2:48796229-48796230	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549187749	chr2:48796243-48796244	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75053980	chr2:48796291-48796292	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537811225	chr2:48796316-48796317	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150293144	chr2:48796338-48796339	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549219227	chr2:48796341-48796342	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543137952	chr2:48796352-48796353	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192717829	chr2:48796353-48796354	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs137937896	chr2:48796354-48796355	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556328727	chr2:48796364-48796365	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6732365	chr2:48796407-48796408	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs369105085	chr2:48796490-48796491	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567830698	chr2:48796579-48796580	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149483418	chr2:48796635-48796636	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143101683	chr2:48796639-48796640	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138787682	chr2:48796645-48796646	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540084092	chr2:48796776-48796777	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565703328	chr2:48796824-48796825	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113923154	chr2:48796855-48796856	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74405734	chr2:48796866-48796867	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142808723	chr2:48796884-48796885	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564900505	chr2:48796903-48796904	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540980317	chr2:48796913-48796914	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6761796	chr2:48796966-48796967	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573320168	chr2:48797078-48797079	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35106332	chr2:48797140-48797141	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527959481	chr2:48797159-48797160	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116448317	chr2:48797160-48797161	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7559073	chr2:48797168-48797169	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538514918	chr2:48797169-48797170	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531601672	chr2:48797213-48797214	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377589337	chr2:48797226-48797227	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571216130	chr2:48797251-48797252	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538366178	chr2:48797252-48797253	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184581322	chr2:48797258-48797259	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566192431	chr2:48797264-48797265	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536830913	chr2:48797275-48797276	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1851796	chr2:48797290-48797291	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576341739	chr2:48797367-48797368	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187233401	chr2:48797399-48797400	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74666215	chr2:48797478-48797479	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200434090	chr2:48797553-48797554	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576785367	chr2:48797559-48797560	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541208015	chr2:48797562-48797563	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117810287	chr2:48797563-48797564	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139781469	chr2:48797565-48797566	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
3	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
4	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:48787800-48802200	Weak transcription	Esophagus	oesophagus
7	chr2:48788200-48798200	Weak transcription	Lung	lung
8	chr2:48788400-48799400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48788400-48804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:48788600-48812000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:48790000-48800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:48793600-48796200	Enhancers	Fetal Kidney	kidney
13	chr2:48793600-48796200	Enhancers	Placenta	Placenta
14	chr2:48794000-48807800	Weak transcription	Psoas Muscle	Psoas
15	chr2:48794200-48807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:48794400-48796200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:48794400-48799600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:48794400-48807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:48794400-48812000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
21	chr2:48794600-48796400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:48794600-48811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:48794800-48796200	Enhancers	Ovary	ovary
24	chr2:48794800-48798200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:48795000-48796200	Genic enhancers	Stomach Smooth Muscle	stomach
26	chr2:48795200-48796200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:48795200-48796200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:48795200-48796400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:48795200-48796400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:48795200-48796400	Enhancers	Right Atrium	heart
31	chr2:48795400-48798200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:48795400-48799200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:48795400-48799400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:48795400-48799400	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:48795400-48812000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:48795400-48814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:48795600-48796400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:48795600-48797600	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:48795600-48798600	Weak transcription	Fetal Heart	heart
40	chr2:48795600-48798600	Weak transcription	HSMMtube	muscle
41	chr2:48795600-48800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:48795600-48800000	Weak transcription	Fetal Stomach	stomach
43	chr2:48795600-48808000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
45	chr2:48795800-48799800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:48795800-48800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:48796000-48796200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:48796000-48796200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:48796000-48796200	Enhancers	Left Ventricle	heart
50	chr2:48796000-48798000	Weak transcription	Fetal Muscle Leg	muscle

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