Variant report

Variant	esv2759058
Chromosome Location	chr2:67266707-67465662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1032)
CpG islands
(count:673)
Chromatin interactive
region (count:23)
LncRNA
region (count:65)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:67283036-67283557	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:67285020-67285557	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:67267109-67267732	HepG2	liver:	n/a	n/a
4	BACH1	chr2:67442430-67442736	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:67431528-67431811	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:67387025-67387433	GM12878	blood:	n/a	chr2:67387202-67387213
7	BCL3	chr2:67406658-67406963	GM12878	blood:	n/a	n/a
8	BCL3	chr2:67406685-67407019	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:67283157-67283302	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:67396646-67396741	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:67285049-67285352	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:67282589-67282814	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:67284988-67285443	HepG2	liver:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
14	CEBPB	chr2:67292089-67292433	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
15	CEBPB	chr2:67413277-67413542	HepG2	liver:	n/a	chr2:67413435-67413446
16	CEBPB	chr2:67292105-67292489	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
17	CEBPB	chr2:67366132-67366249	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:67281946-67282058	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:67449561-67449793	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:67268170-67268683	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:67285109-67285359	MCF-7	breast:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
22	CEBPB	chr2:67410306-67410574	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:67285043-67285420	IMR90	lung:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
24	CEBPB	chr2:67292093-67292491	Hela-S3	cervix:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
25	CEBPB	chr2:67343496-67343713	K562	blood:	n/a	chr2:67343564-67343575
26	CEBPB	chr2:67461538-67462050	MCF-7	breast:	n/a	n/a
27	CEBPB	chr2:67282806-67283497	HepG2	liver:	n/a	chr2:67283221-67283232 chr2:67282975-67282986 chr2:67282975-67282988 chr2:67282975-67282988
28	CEBPB	chr2:67277615-67277949	HepG2	liver:	n/a	chr2:67277765-67277776
29	CEBPB	chr2:67292069-67292512	MCF-7	breast:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
30	CEBPB	chr2:67277633-67277947	IMR90	lung:	n/a	chr2:67277765-67277776
31	CEBPB	chr2:67326493-67326779	IMR90	lung:	n/a	chr2:67326605-67326616 chr2:67326607-67326618
32	CEBPB	chr2:67283154-67283282	HepG2	liver:	n/a	chr2:67283221-67283232
33	CEBPB	chr2:67292132-67292477	K562	blood:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
34	CEBPB	chr2:67284983-67285481	Hela-S3	cervix:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
35	CEBPB	chr2:67343420-67343698	IMR90	lung:	n/a	chr2:67343564-67343575
36	CEBPB	chr2:67343429-67343705	A549	lung:	n/a	chr2:67343564-67343575
37	CEBPB	chr2:67326604-67326615	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr2:67274846-67275000	Hela-S3	cervix:	n/a	chr2:67274861-67274874
39	CEBPB	chr2:67330546-67330562	IMR90	lung:	n/a	n/a
40	CEBPB	chr2:67377815-67377824	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr2:67326453-67326790	HepG2	liver:	n/a	chr2:67326605-67326616 chr2:67326607-67326618
42	CEBPB	chr2:67282582-67283245	IMR90	lung:	n/a	chr2:67283221-67283232 chr2:67282975-67282986 chr2:67282975-67282988 chr2:67282975-67282988
43	CEBPB	chr2:67285076-67285339	HepG2	liver:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
44	CEBPB	chr2:67284988-67285420	HepG2	liver:	n/a	chr2:67285270-67285281 chr2:67285269-67285282
45	CEBPB	chr2:67282832-67283083	A549	lung:	n/a	chr2:67282975-67282986 chr2:67282975-67282988 chr2:67282975-67282988
46	CEBPB	chr2:67461620-67461957	IMR90	lung:	n/a	n/a
47	CEBPB	chr2:67292213-67292368	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
48	CEBPB	chr2:67396616-67396866	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr2:67292118-67292477	ECC-1	luminal epithelium:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
50	CEBPB	chr2:67410257-67410448	H1-hESC	embryonic stem cell:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:67313452-67313502	HCM	heart:	n/a
2	chr2:67442559-67442609	Hepatocyte	liver:	n/a
3	chr2:67313452-67313502	HCM	heart:	n/a
4	chr2:67442559-67442609	Hepatocyte	liver:	n/a
5	chr2:67313452-67313502	GM12892	blood:	n/a
6	chr2:67387038-67387088	T-47D	breast:	n/a
7	chr2:67282212-67282262	RPTEC	kidney:	n/a
8	chr2:67461943-67461993	K562	blood:	n/a
9	chr2:67299624-67299674	NH-A	brain:	n/a
10	chr2:67312537-67312587	HRE	kidney:	n/a
11	chr2:67461943-67461993	MCF-7	breast:	n/a
12	chr2:67442562-67442612	HepG2	liver:	n/a
13	chr2:67357640-67357690	HUVEC	blood vessel:	n/a
14	chr2:67442562-67442612	HIPEpiC	eye:	n/a
15	chr2:67442562-67442612	SK-N-MC	brain:	n/a
16	chr2:67387038-67387088	SK-N-SH	brain:	n/a
17	chr2:67442562-67442612	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:67312514-67312564	Caco-2	colon:	n/a
19	chr2:67313452-67313502	K562	blood:	n/a
20	chr2:67299624-67299674	U87	brain:	n/a
21	chr2:67442559-67442609	AG04450	lung:	fetal
22	chr2:67312514-67312564	HRPEpiC	eye:	n/a
23	chr2:67299624-67299674	AoSMC	blood vessel:	n/a
24	chr2:67312514-67312564	NH-A	brain:	n/a
25	chr2:67461943-67461993	GM12878	blood:	n/a
26	chr2:67313452-67313502	NHBE	bronchial:	n/a
27	chr2:67442559-67442609	HUVEC	blood vessel:	n/a
28	chr2:67443148-67443198	CMK	blood:	n/a
29	chr2:67312514-67312564	HEEpiC	esophagus:	n/a
30	chr2:67387038-67387088	AG09309	skin:	n/a
31	chr2:67357640-67357690	SK-N-MC	brain:	n/a
32	chr2:67313452-67313502	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:67443148-67443198	SAEC	small airway:	n/a
34	chr2:67357640-67357690	BE2_C	brain:	n/a
35	chr2:67387038-67387088	SAEC	small airway:	n/a
36	chr2:67312514-67312564	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:67299624-67299674	SKMC	muscle:	n/a
38	chr2:67442559-67442609	BE2_C	brain:	n/a
39	chr2:67442559-67442609	AoSMC	blood vessel:	n/a
40	chr2:67312514-67312564	SKMC	muscle:	n/a
41	chr2:67461943-67461993	NHBE	bronchial:	n/a
42	chr2:67387038-67387088	K562	blood:	n/a
43	chr2:67442559-67442609	MCF-7	breast:	n/a
44	chr2:67442562-67442612	GM06990	blood:	n/a
45	chr2:67443148-67443198	MCF10A-Er-Src	breast:	n/a
46	chr2:67442559-67442609	HCT-116	colon:	n/a
47	chr2:67282212-67282262	U87	brain:	n/a
48	chr2:67299624-67299674	H1-hESC	embryonic stem cell:	embryo
49	chr2:67442562-67442612	NH-A	brain:	n/a
50	chr2:67299624-67299674	HL-60	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:67300874..67302593-chr2:67306328..67309313,2	K562	blood:
2	chr2:67464250..67465118-chr2:67877852..67878567,2	MCF-7	breast:
3	chr2:67268005..67270725-chr2:67271591..67273930,3	K562	blood:
4	chr2:67464167..67465140-chr2:68067336..68068083,4	MCF-7	breast:
5	chr2:67309863..67311895-chr2:67315048..67316901,3	MCF-7	breast:
6	chr2:67298780..67301442-chr2:67330726..67332237,2	K562	blood:
7	chr2:67428374..67430346-chr2:67431827..67434171,3	K562	blood:
8	chr2:67300874..67302593-chr2:67306328..67309313,2	K562	blood:
9	chr2:67464144..67464961-chr2:68067459..68068253,2	MCF-7	breast:
10	chr2:66660597..66662328-chr2:67444081..67446040,2	MCF-7	breast:
11	chr2:67403278..67404972-chr2:67405479..67407760,2	MCF-7	breast:
12	chr2:67268005..67270725-chr2:67271591..67273930,3	K562	blood:
13	chr2:66660289..66660808-chr2:67461184..67461830,2	MCF-7	breast:
14	chr2:67298780..67301442-chr2:67330726..67332237,2	K562	blood:
15	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:
16	chr2:66813989..66814981-chr2:67461210..67462180,4	MCF-7	breast:
17	chr2:67428374..67430346-chr2:67431827..67434171,3	K562	blood:
18	chr2:67309863..67311895-chr2:67315048..67316901,3	MCF-7	breast:
19	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:
20	chr2:67464314..67465913-chr2:67549538..67550435,4	MCF-7	breast:
21	chr2:67442796..67445118-chr2:67455798..67458502,2	MCF-7	breast:
22	chr2:67403278..67404972-chr2:67405479..67407760,2	MCF-7	breast:
23	chr2:67442796..67445118-chr2:67455798..67458502,2	MCF-7	breast:

(count:65 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-5	chr2:67313578-67313687	XLOC_001512
2	lnc-ETAA1-6	chr2:67348944-67348984	XLOC_001511
3	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
4	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
5	lnc-C1D-3	chr2:67402555-67402831	XLOC_002142
6	lnc-C1D-14	chr2:67295864-67295913	NONHSAT071257
7	lnc-ETAA1-13	chr2:67404593-67404843	NONHSAT071270
8	lnc-ETAA1-16	chr2:67368392-67368454	ucscGeneNc_uc002sdx_2
9	lnc-C1D-14	chr2:67286145-67286199	NONHSAT071257
10	lnc-C1D-3	chr2:67391669-67391719	XLOC_002142
11	lnc-ETAA1-16	chr2:67349120-67349274	ucscGeneNc_uc002sdx_2
12	lnc-C1D-3	chr2:67375469-67375569	XLOC_002142
13	lnc-ETAA1-6	chr2:67283289-67283483	XLOC_001511
14	lnc-C1D-3	chr2:67373700-67373790	XLOC_002142
15	lnc-ETAA1-16	chr2:67369719-67369875	ucscGeneNc_uc002sdx_2
16	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
17	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
18	lnc-ETAA1-3	chr2:67456531-67456627	ENSG00000230906
19	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
20	lnc-ETAA1-16	chr2:67369719-67370060	NONHSAT071254
21	lnc-ETAA1-6	chr2:67348944-67349002	ENSG00000230906.2
22	lnc-C1D-3	chr2:67350489-67351995	XLOC_002142
23	lnc-C1D-3	chr2:67404714-67405124	XLOC_002142
24	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
25	lnc-ETAA1-16	chr2:67345633-67345828	NONHSAT071254
26	lnc-ETAA1-16	chr2:67341439-67341843	NONHSAT071263
27	lnc-ETAA1-7	chr2:67267678-67268197	ENSG00000223859
28	lnc-C1D-14	chr2:67286145-67286199	NONHSAT071255
29	lnc-C1D-14	chr2:67283752-67283809	NONHSAT071257
30	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
31	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
32	lnc-C1D-14	chr2:67295864-67295955	NONHSAT071255
33	lnc-ETAA1-5	chr2:67313578-67313687	XLOC_001512
34	lnc-C1D-3	chr2:67442360-67442409	XLOC_002142
35	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
36	lnc-C1D-14	chr2:67283752-67283809	NONHSAT071255
37	lnc-ETAA1-16	chr2:67349120-67349274	NONHSAT071254
38	lnc-ETAA1-16	chr2:67369719-67370030	NONHSAT071263
39	lnc-ETAA1-16	chr2:67376504-67376711	NONHSAT071254
40	lnc-C1D-3	chr2:67442360-67442466	XLOC_002142
41	lnc-ETAA1-7	chr2:67269052-67269098	ENSG00000223859
42	lnc-C1D-3	chr2:67353378-67353522	XLOC_002142
43	lnc-C1D-3	chr2:67351802-67351995	XLOC_002142
44	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
45	lnc-ETAA1-16	chr2:67368392-67368454	NONHSAT071254
46	lnc-ETAA1-6	chr2:67456531-67456627	ENSG00000230906.2
47	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
48	lnc-ETAA1-15	chr2:67323915-67323997	NONHSAT071260
49	lnc-ETAA1-6	chr2:67408120-67408355	ENSG00000230906.2
50	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142

No data

Variant related genes	Relation type
ENSG00000230906	TF binding region
ENSG00000236780	TF binding region
ENSG00000235885	TF binding region
ENSG00000223859	TF binding region
ENSG00000230906	CpG island
ENSG00000236780	CpG island
ENSG00000235885	CpG island
ENSG00000223859	CpG island
ENSG00000143995	chromatin interactions
ENSG00000226819	chromatin interactions
ZEB1	miRNA target sites
TGFBR2	miRNA target sites

Extended variants
information (count: 7117 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:7117 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7579521	chr2:67266707-67266708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546144146	chr2:67266716-67266717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566143222	chr2:67266738-67266739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538927193	chr2:67266740-67266741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569727654	chr2:67266802-67266803	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558799493	chr2:67266824-67266825	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs193131030	chr2:67266952-67266953	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538397060	chr2:67267104-67267105	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs59384911	chr2:67267122-67267123	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182777193	chr2:67267123-67267124	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558573648	chr2:67267135-67267136	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187494165	chr2:67267193-67267194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191370418	chr2:67267232-67267233	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546339364	chr2:67267233-67267234	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183815862	chr2:67267255-67267256	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546241351	chr2:67267261-67267262	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188583503	chr2:67267273-67267274	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565393598	chr2:67267335-67267336	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143645958	chr2:67267385-67267386	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192060332	chr2:67267452-67267453	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560968851	chr2:67267480-67267481	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76015655	chr2:67267500-67267501	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546320626	chr2:67267566-67267567	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557054434	chr2:67267603-67267604	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185350812	chr2:67267615-67267616	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531948978	chr2:67267663-67267664	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs71411007	chr2:67267677-67267678	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190547044	chr2:67267709-67267710	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs58626996	chr2:67267720-67267721	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76886389	chr2:67267746-67267747	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs530462588	chr2:67267749-67267750	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs72890007	chr2:67267757-67267758	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555135993	chr2:67267775-67267776	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs146801706	chr2:67267819-67267820	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561833353	chr2:67267896-67267897	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs113997552	chr2:67267956-67267957	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554279125	chr2:67267958-67267959	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577429123	chr2:67267978-67267979	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546177982	chr2:67268124-67268125	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs73937625	chr2:67268167-67268168	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575489237	chr2:67268214-67268215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569701020	chr2:67268282-67268283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115648679	chr2:67268328-67268329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182247859	chr2:67268361-67268362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148926594	chr2:67268378-67268379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57204648	chr2:67268445-67268446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112215550	chr2:67268466-67268467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540055565	chr2:67268467-67268468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559778295	chr2:67268547-67268548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113581600	chr2:67268619-67268620	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67264200-67267400	Enhancers	Fetal Intestine Small	intestine
2	chr2:67264600-67267400	Enhancers	Fetal Intestine Large	intestine
3	chr2:67264800-67268200	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:67265200-67267200	Enhancers	Pancreas	Pancrea
5	chr2:67265400-67266800	Weak transcription	Fetal Kidney	kidney
6	chr2:67265400-67268200	Enhancers	Liver	Liver
7	chr2:67265600-67266800	Weak transcription	Fetal Lung	lung
8	chr2:67266200-67267000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:67266400-67268400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:67266600-67267000	Enhancers	Gastric	stomach
11	chr2:67266600-67267400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:67266600-67267600	Enhancers	Stomach Mucosa	stomach
13	chr2:67266600-67268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:67266600-67269400	Enhancers	Hela-S3	cervix
15	chr2:67266800-67267000	Enhancers	Fetal Kidney	kidney
16	chr2:67266800-67267200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:67266800-67267200	Enhancers	Fetal Stomach	stomach
18	chr2:67266800-67267400	Enhancers	Fetal Lung	lung
19	chr2:67266800-67268200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:67267000-67267400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:67267000-67267400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:67267000-67267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:67267200-67267600	Weak transcription	Pancreas	Pancrea
24	chr2:67267400-67267800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:67267400-67268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:67267400-67268200	Weak transcription	Fetal Lung	lung
27	chr2:67267600-67267800	Enhancers	Pancreas	Pancrea
28	chr2:67267600-67268000	Weak transcription	Stomach Mucosa	stomach
29	chr2:67267800-67268600	Enhancers	Fetal Intestine Large	intestine
30	chr2:67267800-67270600	Weak transcription	Pancreas	Pancrea
31	chr2:67268000-67268600	Enhancers	Stomach Mucosa	stomach
32	chr2:67268000-67268800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:67268200-67268400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:67268200-67269200	Enhancers	Fetal Lung	lung
35	chr2:67268400-67273200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:67268600-67268800	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr2:67268800-67270000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:67269200-67274200	Weak transcription	Fetal Lung	lung
39	chr2:67269400-67273200	Weak transcription	Hela-S3	cervix
40	chr2:67270600-67272400	Enhancers	Pancreas	Pancrea
41	chr2:67272400-67274800	Weak transcription	Pancreas	Pancrea
42	chr2:67273200-67274400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:67273200-67274800	Enhancers	Hela-S3	cervix
44	chr2:67273200-67275000	Enhancers	Fetal Intestine Small	intestine
45	chr2:67273200-67275000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:67273200-67275400	Enhancers	Fetal Intestine Large	intestine
47	chr2:67273600-67274400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:67273600-67275000	Enhancers	Stomach Mucosa	stomach
49	chr2:67273800-67274000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:67274000-67274600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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