Variant report

Variant	nsv834226
Chromosome Location	chr2:62745027-62894013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1407)
CpG islands
(count:856)
Chromatin interactive
region (count:29)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:62869353-62870394	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:62792371-62792922	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:62794907-62795517	HepG2	liver:	n/a	chr2:62795435-62795451
4	ARID3A	chr2:62795969-62798122	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:62880772-62881775	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:62767386-62768109	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:62754813-62755546	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:62817057-62817459	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:62805120-62806370	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:62753451-62754571	HepG2	liver:	n/a	n/a
11	ATF1	chr2:62814171-62814501	K562	blood:	n/a	n/a
12	ATF2	chr2:62825831-62826320	GM12878	blood:	n/a	n/a
13	ATF2	chr2:62825956-62826272	GM12878	blood:	n/a	n/a
14	ATF3	chr2:62804843-62805812	HCT-116	colon:	n/a	n/a
15	ATF3	chr2:62804747-62806787	A549	lung:	n/a	n/a
16	ATF3	chr2:62804903-62806678	A549	lung:	n/a	n/a
17	ATF3	chr2:62796945-62797930	A549	lung:	n/a	n/a
18	ATF3	chr2:62796473-62797820	A549	lung:	n/a	n/a
19	BACH1	chr2:62797394-62797489	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:62798211-62798463	H1-hESC	embryonic stem cell:	n/a	chr2:62798385-62798399
21	BATF	chr2:62887859-62888254	GM12878	blood:	n/a	chr2:62888061-62888072
22	BATF	chr2:62825661-62825845	GM12878	blood:	n/a	n/a
23	BATF	chr2:62831421-62831702	GM12878	blood:	n/a	n/a
24	BATF	chr2:62831417-62831739	GM12878	blood:	n/a	n/a
25	BCL3	chr2:62804749-62806984	A549	lung:	n/a	n/a
26	BCL3	chr2:62804577-62807004	A549	lung:	n/a	n/a
27	BCL3	chr2:62796345-62798363	A549	lung:	n/a	chr2:62797896-62797909
28	BCL3	chr2:62796374-62798026	A549	lung:	n/a	chr2:62797896-62797909
29	BCL3	chr2:62880798-62881857	A549	lung:	n/a	n/a
30	BCLAF1	chr2:62887071-62887719	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:62753882-62754282	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:62798272-62798471	K562	blood:	n/a	n/a
33	BHLHE40	chr2:62797227-62797503	A549	lung:	n/a	n/a
34	BHLHE40	chr2:62797130-62797700	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:62842761-62842897	K562	blood:	n/a	n/a
36	BHLHE40	chr2:62796783-62797824	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:62797189-62797527	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:62814204-62814370	GM12878	blood:	n/a	n/a
39	BRCA1	chr2:62884441-62884529	GM12878	blood:	n/a	n/a
40	CBX3	chr2:62750530-62750857	K562	blood:	n/a	n/a
41	CBX3	chr2:62804868-62808039	HCT-116	colon:	n/a	n/a
42	CBX3	chr2:62804937-62806981	HCT-116	colon:	n/a	n/a
43	CCNT2	chr2:62755156-62755330	K562	blood:	n/a	n/a
44	CEBPB	chr2:62804874-62806782	HCT-116	colon:	n/a	chr2:62805217-62805228 chr2:62805532-62805540 chr2:62806192-62806203 chr2:62804936-62804948
45	CEBPB	chr2:62788663-62789197	HCT-116	colon:	n/a	chr2:62788941-62788952
46	CEBPB	chr2:62852090-62852364	MCF-7	breast:	n/a	n/a
47	CEBPB	chr2:62796994-62797480	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:62788620-62789136	K562	blood:	n/a	chr2:62788941-62788952
49	CEBPB	chr2:62788663-62789143	A549	lung:	n/a	chr2:62788941-62788952
50	CEBPB	chr2:62892703-62892903	A549	lung:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:62797926-62797976	HRPEpiC	eye:	n/a
2	chr2:62767922-62767972	PANC-1	pancreas:	n/a
3	chr2:62797926-62797976	HRPEpiC	eye:	n/a
4	chr2:62767922-62767972	PANC-1	pancreas:	n/a
5	chr2:62797926-62797976	SK-N-MC	brain:	n/a
6	chr2:62797901-62797951	Hepatocyte	liver:	n/a
7	chr2:62824045-62824095	AG09309	skin:	n/a
8	chr2:62756405-62756455	CMK	blood:	n/a
9	chr2:62857522-62857572	HEEpiC	esophagus:	n/a
10	chr2:62754383-62754433	HCT-116	colon:	n/a
11	chr2:62754383-62754433	SK-N-SH	brain:	n/a
12	chr2:62824045-62824095	SKMC	muscle:	n/a
13	chr2:62797901-62797951	HepG2	liver:	n/a
14	chr2:62816860-62816910	GM12892	blood:	n/a
15	chr2:62824045-62824095	ovcar-3	ovarian:	n/a
16	chr2:62805851-62805901	Hela-S3	cervix:	n/a
17	chr2:62797901-62797951	HRE	kidney:	n/a
18	chr2:62888566-62888616	HL-60	blood:	n/a
19	chr2:62754383-62754433	BJ	skin:	n/a
20	chr2:62754383-62754433	NHBE	bronchial:	n/a
21	chr2:62798448-62798498	IMR90	lung:	fetal
22	chr2:62798365-62798415	HMEC	breast:	n/a
23	chr2:62798365-62798415	AoSMC	blood vessel:	n/a
24	chr2:62798365-62798415	AG09309	skin:	n/a
25	chr2:62816860-62816910	Hela-S3	cervix:	n/a
26	chr2:62888566-62888616	GM12891	blood:	n/a
27	chr2:62798448-62798498	Hepatocyte	liver:	n/a
28	chr2:62788813-62788863	GM12892	blood:	n/a
29	chr2:62798365-62798415	BE2_C	brain:	n/a
30	chr2:62824045-62824095	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:62767922-62767972	Hela-S3	cervix:	n/a
32	chr2:62797901-62797951	HMEC	breast:	n/a
33	chr2:62797926-62797976	PrEC	prostate:	n/a
34	chr2:62797901-62797951	PFSK-1	brain:	n/a
35	chr2:62798365-62798415	NT2-D1	testis:	n/a
36	chr2:62797926-62797976	H1-hESC	embryonic stem cell:	embryo
37	chr2:62754383-62754433	NB4	blood:	n/a
38	chr2:62788813-62788863	H1-hESC	embryonic stem cell:	embryo
39	chr2:62888566-62888616	HCM	heart:	n/a
40	chr2:62788813-62788863	IMR90	lung:	fetal
41	chr2:62797901-62797951	CMK	blood:	n/a
42	chr2:62756405-62756455	SKMC	muscle:	n/a
43	chr2:62756405-62756455	U87	brain:	n/a
44	chr2:62824045-62824095	BJ	skin:	n/a
45	chr2:62888566-62888616	HCF	heart:	n/a
46	chr2:62756405-62756455	MCF10A-Er-Src	breast:	n/a
47	chr2:62857522-62857572	GM12878	blood:	n/a
48	chr2:62824045-62824095	HRCEpiC	kidney:	n/a
49	chr2:62767922-62767972	GM12891	blood:	n/a
50	chr2:62798448-62798498	NH-A	brain:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:62748688..62751507-chr2:62757816..62760210,2	K562	blood:
2	chr2:62805472..62807401-chr2:62822491..62825176,2	MCF-7	breast:
3	chr2:62750475..62752947-chr2:62754435..62758816,4	MCF-7	breast:
4	chr2:62803038..62805318-chr2:62807553..62809617,2	K562	blood:
5	chr2:62801914..62804670-chr2:62805943..62809053,3	K562	blood:
6	chr2:62805472..62807401-chr2:62822491..62825176,2	MCF-7	breast:
7	chr2:62815568..62818395-chr2:62989644..62992050,2	K562	blood:
8	chr2:62774741..62777496-chr2:62784442..62786163,2	K562	blood:
9	chr2:62774741..62777496-chr2:62784442..62786163,2	K562	blood:
10	chr2:62883737..62887558-chr2:62889986..62892467,3	K562	blood:
11	chr2:62803038..62805318-chr2:62807553..62809617,2	K562	blood:
12	chr2:62781352..62783656-chr2:62789677..62792468,2	K562	blood:
13	chr2:62866392..62868630-chr2:62870444..62872522,2	MCF-7	breast:
14	chr2:62750475..62752947-chr2:62754435..62758816,4	MCF-7	breast:
15	chr2:62801914..62804670-chr2:62805943..62809053,3	K562	blood:
16	chr2:62868727..62871605-chr2:62931209..62933790,2	MCF-7	breast:
17	chr2:62825643..62826253-chr5:138713570..138714131,2	MCF-7	breast:
18	chr2:62866392..62868630-chr2:62870444..62872522,2	MCF-7	breast:
19	chr2:62781352..62783656-chr2:62789677..62792468,2	K562	blood:
20	chr2:62704342..62706452-chr2:62754293..62757210,2	K562	blood:
21	chr2:62883289..62885199-chr2:62932148..62934917,2	K562	blood:
22	chr2:62886240..62888184-chr2:62910280..62913021,2	K562	blood:
23	chr2:62883737..62887558-chr2:62889986..62892467,3	K562	blood:
24	chr2:62796756..62798416-chr2:62803232..62804863,2	MCF-7	breast:
25	chr2:62886383..62889324-chr2:62914421..62916883,2	K562	blood:
26	chr2:62796756..62798416-chr2:62803232..62804863,2	MCF-7	breast:
27	chr2:62789959..62792774-chr2:62932258..62934992,3	MCF-7	breast:
28	chr2:62738591..62740888-chr2:62749729..62751861,2	K562	blood:
29	chr2:62219244..62222236-chr2:62763935..62766858,2	K562	blood:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-2	chr2:62852088-62852146	XLOC_002117
2	lnc-TMEM17-2	chr2:62889030-62889068	XLOC_002117
3	lnc-TMEM17-2	chr2:62815940-62816078	NONHSAT071023
4	lnc-TMEM17-2	chr2:62839451-62839526	XLOC_002117
5	lnc-TMEM17-2	chr2:62814590-62815055	NONHSAT071022
6	lnc-TMEM17-2	chr2:62839451-62839526	XLOC_002117
7	lnc-TMEM17-2	chr2:62814590-62815055	NONHSAT071023
8	lnc-EHBP1-2	chr2:62839450-62839526	NONHSAT071024
9	lnc-TMEM17-2	chr2:62889743-62889763	XLOC_002117
10	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
11	lnc-EHBP1-2	chr2:62856487-62856611	NONHSAT071024
12	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
13	lnc-EHBP1-2	chr2:62817389-62817712	NONHSAT071024
14	lnc-TMEM17-2	chr2:62852262-62852355	NONHSAT071032
15	lnc-TMEM17-2	chr2:62852088-62852146	XLOC_002117
16	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
17	lnc-EHBP1-2	chr2:62840740-62841281	NONHSAT071024
18	lnc-TMEM17-2	chr2:62838524-62839358	XLOC_002117
19	lnc-TMEM17-2	chr2:62889743-62889789	XLOC_002117
20	lnc-TMEM17-2	chr2:62839451-62839526	XLOC_002117
21	lnc-TMEM17-2	chr2:62856488-62856579	XLOC_002117
22	lnc-TMEM17-2	chr2:62840741-62840837	XLOC_002117
23	lnc-TMEM17-2	chr2:62858537-62858697	NONHSAT071022
24	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
25	lnc-TMEM17-2	chr2:62889743-62889929	XLOC_002117
26	lnc-TMEM17-2	chr2:62851055-62851090	XLOC_002117
27	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
28	lnc-EHBP1-2	chr2:62858536-62858700	NONHSAT071024
29	lnc-EHBP1-2	chr2:62893032-62893417	NONHSAT071024
30	lnc-TMEM17-2	chr2:62858537-62858700	XLOC_002117
31	lnc-EHBP1-2	chr2:62889029-62889089	NONHSAT071024
32	lnc-TMEM17-2	chr2:62817636-62817712	NONHSAT071022
33	lnc-TMEM17-2	chr2:62838915-62839358	XLOC_002117
34	lnc-TMEM17-2	chr2:62858537-62858697	NONHSAT071032
35	lnc-TMEM17-2	chr2:62817390-62817712	XLOC_002117
36	lnc-TMEM17-2	chr2:62856488-62856611	XLOC_002117
37	lnc-TMEM17-2	chr2:62889743-62889927	XLOC_002117
38	lnc-TMEM17-2	chr2:62889743-62889751	XLOC_002117
39	lnc-TMEM17-2	chr2:62838524-62839358	XLOC_002117
40	lnc-EHBP1-2	chr2:62838914-62839358	NONHSAT071024
41	lnc-TMEM17-2	chr2:62889030-62889068	XLOC_002117
42	lnc-TMEM17-2	chr2:62889030-62889068	XLOC_002117
43	lnc-TMEM17-5	chr2:62788193-62788558	NONHSAT071020
44	lnc-TMEM17-2	chr2:62858537-62858701	XLOC_002117
45	lnc-TMEM17-2	chr2:62852102-62852146	NONHSAT071032
46	lnc-TMEM17-2	chr2:62839451-62839526	XLOC_002117
47	lnc-TMEM17-2	chr2:62839007-62839358	XLOC_002117
48	lnc-TMEM17-2	chr2:62856488-62856595	NONHSAT071032
49	lnc-TMEM17-2	chr2:62839451-62839526	XLOC_002117
50	lnc-TMEM17-4	chr2:62779598-62780569	NONHSAT071019

No data

Variant related genes	Relation type
ENSG00000226622	TF binding region
PSAT1P2	TF binding region
ENSG00000229503	TF binding region
RSL24D1P2	TF binding region
ENSG00000226622	CpG island
PSAT1P2	CpG island
ENSG00000229503	CpG island
RSL24D1P2	CpG island
ENSG00000115504	chromatin interactions
ENSG00000186889	chromatin interactions
ENSG00000229503	chromatin interactions
MITF	miRNA target sites
MKNK2	miRNA target sites
PALLD	miRNA target sites
LIMS1	miRNA target sites
GNAI2	miRNA target sites
MKRN1	miRNA target sites
CCDC99	miRNA target sites
FSTL1	miRNA target sites
MKLN1	miRNA target sites
TIMP3	miRNA target sites
MYH10	miRNA target sites

Extended variants
information (count: 5822 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:5822 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115036803	chr2:62748202-62748203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536790485	chr2:62748206-62748207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530886046	chr2:62748263-62748264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4672530	chr2:62748319-62748320	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561536268	chr2:62748323-62748324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528724266	chr2:62748349-62748350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547154184	chr2:62748357-62748358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374806087	chr2:62748365-62748366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4672531	chr2:62748369-62748370	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13404899	chr2:62748380-62748381	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113119954	chr2:62748381-62748382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117053155	chr2:62748415-62748416	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533914889	chr2:62748422-62748423	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533773558	chr2:62748423-62748424	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368811886	chr2:62748426-62748427	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141329905	chr2:62748431-62748432	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs578071509	chr2:62748437-62748438	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149918598	chr2:62748440-62748441	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72805597	chr2:62748457-62748458	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184469068	chr2:62748464-62748465	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs145098116	chr2:62748481-62748482	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542340400	chr2:62748491-62748492	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561601668	chr2:62748505-62748506	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528783678	chr2:62748516-62748517	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190268390	chr2:62748524-62748525	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540514964	chr2:62748526-62748527	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535703492	chr2:62748529-62748530	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565475935	chr2:62748538-62748539	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555049396	chr2:62748539-62748540	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192529297	chr2:62748552-62748553	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550668564	chr2:62748595-62748596	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568587401	chr2:62748603-62748604	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376736929	chr2:62748611-62748612	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377179923	chr2:62748612-62748613	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529671283	chr2:62748620-62748621	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184979888	chr2:62748621-62748622	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189044597	chr2:62748650-62748651	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534091446	chr2:62748651-62748652	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558525182	chr2:62748672-62748673	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570640895	chr2:62748687-62748688	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112114189	chr2:62748713-62748714	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537615863	chr2:62748725-62748726	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557454657	chr2:62748759-62748760	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575791430	chr2:62748767-62748768	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149102150	chr2:62748801-62748802	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543932957	chr2:62748824-62748825	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563650710	chr2:62748854-62748855	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58867570	chr2:62748855-62748856	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536684160	chr2:62748861-62748862	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397965665	chr2:62748862-62748863	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:1441 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62748200-62749200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr2:62748200-62749200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:62748200-62749800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:62748400-62749000	Active TSS	K562	blood
5	chr2:62748400-62749200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:62749000-62751600	Weak transcription	K562	blood
7	chr2:62749000-62753000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:62749200-62752800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:62749200-62760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:62751000-62752800	Enhancers	HepG2	liver
11	chr2:62751200-62752000	Enhancers	Pancreas	Pancrea
12	chr2:62751200-62752600	Enhancers	Ovary	ovary
13	chr2:62751400-62752000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:62751400-62752200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:62751400-62752200	Enhancers	Stomach Mucosa	stomach
16	chr2:62751400-62752200	Enhancers	HUVEC	blood vessel
17	chr2:62751600-62751800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:62751600-62751800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:62751600-62751800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:62751600-62752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:62751600-62752000	Enhancers	Adipose Nuclei	Adipose
22	chr2:62751600-62752000	Enhancers	K562	blood
23	chr2:62751800-62752800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:62751800-62752800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:62751800-62753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:62752000-62752400	Weak transcription	Pancreas	Pancrea
27	chr2:62752000-62753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:62752000-62753200	Weak transcription	K562	blood
29	chr2:62752200-62752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:62752200-62752600	Weak transcription	Stomach Mucosa	stomach
31	chr2:62752200-62754800	Weak transcription	HUVEC	blood vessel
32	chr2:62752400-62752600	Enhancers	Pancreas	Pancrea
33	chr2:62752600-62753600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:62752600-62753800	Weak transcription	Ovary	ovary
35	chr2:62752600-62753800	Weak transcription	Pancreas	Pancrea
36	chr2:62752600-62755400	Enhancers	Stomach Mucosa	stomach
37	chr2:62752800-62753200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:62752800-62753200	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:62752800-62753600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:62752800-62753600	Enhancers	Liver	Liver
41	chr2:62752800-62753600	Enhancers	Fetal Intestine Large	intestine
42	chr2:62752800-62753600	Flanking Active TSS	HepG2	liver
43	chr2:62752800-62754000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:62752800-62754000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:62752800-62754000	Enhancers	Fetal Intestine Small	intestine
46	chr2:62752800-62754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:62752800-62754600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:62752800-62754800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:62752800-62755400	Enhancers	A549	lung
50	chr2:62752800-62755600	Enhancers	Fetal Lung	lung

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