Variant report

Variant	esv2757805
Chromosome Location	chr2:67287279-67465662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:67442430-67442736	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:67431528-67431811	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr2:67387025-67387433	GM12878	blood:	n/a	chr2:67387202-67387213
4	BCL3	chr2:67406658-67406963	GM12878	blood:	n/a	n/a
5	BCL3	chr2:67406685-67407019	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:67396646-67396741	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:67461642-67461936	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:67413387-67413558	A549	lung:	n/a	chr2:67413435-67413446
9	CEBPB	chr2:67396616-67396866	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:67366132-67366249	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:67326604-67326615	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:67292021-67292504	A549	lung:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
13	CEBPB	chr2:67343420-67343698	IMR90	lung:	n/a	chr2:67343564-67343575
14	CEBPB	chr2:67448459-67448715	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:67292112-67292464	H1-hESC	embryonic stem cell:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
16	CEBPB	chr2:67292120-67292507	MCF-7	breast:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
17	CEBPB	chr2:67292089-67292433	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
18	CEBPB	chr2:67461538-67462050	MCF-7	breast:	n/a	n/a
19	CEBPB	chr2:67292093-67292491	Hela-S3	cervix:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
20	CEBPB	chr2:67326493-67326779	IMR90	lung:	n/a	chr2:67326605-67326616 chr2:67326607-67326618
21	CEBPB	chr2:67448430-67448709	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:67343407-67343745	HepG2	liver:	n/a	chr2:67343564-67343575
23	CEBPB	chr2:67410315-67410549	A549	lung:	n/a	n/a
24	CEBPB	chr2:67330546-67330562	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:67357948-67358384	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:67292105-67292489	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
27	CEBPB	chr2:67410306-67410574	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:67377815-67377824	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr2:67410257-67410448	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr2:67292118-67292483	A549	lung:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
31	CEBPB	chr2:67410183-67410594	HepG2	liver:	n/a	chr2:67410235-67410246
32	CEBPB	chr2:67292110-67292480	IMR90	lung:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
33	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
34	CEBPB	chr2:67413277-67413542	HepG2	liver:	n/a	chr2:67413435-67413446
35	CEBPB	chr2:67292144-67292483	A549	lung:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
36	CEBPB	chr2:67292069-67292512	MCF-7	breast:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
37	CEBPB	chr2:67292213-67292368	HepG2	liver:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
38	CEBPB	chr2:67343496-67343713	K562	blood:	n/a	chr2:67343564-67343575
39	CEBPB	chr2:67292127-67292533	ECC-1	luminal epithelium:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
40	CEBPB	chr2:67326453-67326790	HepG2	liver:	n/a	chr2:67326605-67326616 chr2:67326607-67326618
41	CEBPB	chr2:67343429-67343705	A549	lung:	n/a	chr2:67343564-67343575
42	CEBPB	chr2:67449561-67449793	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:67292132-67292477	K562	blood:	n/a	chr2:67292292-67292303 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302 chr2:67292293-67292302
44	CEBPB	chr2:67461612-67461951	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:67461620-67461957	IMR90	lung:	n/a	n/a
46	CTCF	chr2:67438060-67438210	NHEK	skin:	n/a	n/a
47	CTCF	chr2:67442540-67442690	NB4	blood:	n/a	chr2:67442567-67442585 chr2:67442573-67442582
48	CTCF	chr2:67461700-67461850	HepG2	liver:	n/a	n/a
49	CTCF	chr2:67461644-67461927	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:67464640-67464790	RPTEC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:67461943-67461993	AG04450	lung:	fetal
2	chr2:67461943-67461993	AG04450	lung:	fetal
3	chr2:67461943-67461993	SAEC	small airway:	n/a
4	chr2:67312514-67312564	IMR90	lung:	fetal
5	chr2:67443148-67443198	PrEC	prostate:	n/a
6	chr2:67313452-67313502	HepG2	liver:	n/a
7	chr2:67313452-67313502	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:67312537-67312587	A549	lung:	n/a
9	chr2:67312537-67312587	AG09309	skin:	n/a
10	chr2:67357640-67357690	BE2_C	brain:	n/a
11	chr2:67312514-67312564	Caco-2	colon:	n/a
12	chr2:67442559-67442609	SK-N-MC	brain:	n/a
13	chr2:67461943-67461993	Hepatocyte	liver:	n/a
14	chr2:67299624-67299674	Hela-S3	cervix:	n/a
15	chr2:67312514-67312564	NT2-D1	testis:	n/a
16	chr2:67387038-67387088	NH-A	brain:	n/a
17	chr2:67461943-67461993	HCT-116	colon:	n/a
18	chr2:67312514-67312564	Jurkat	blood:	n/a
19	chr2:67312537-67312587	RPTEC	kidney:	n/a
20	chr2:67442559-67442609	PANC-1	pancreas:	n/a
21	chr2:67312537-67312587	Hepatocyte	liver:	n/a
22	chr2:67313452-67313502	HUVEC	blood vessel:	n/a
23	chr2:67442562-67442612	NHBE	bronchial:	n/a
24	chr2:67357640-67357690	HRPEpiC	eye:	n/a
25	chr2:67312514-67312564	HCM	heart:	n/a
26	chr2:67312537-67312587	HAEpiC	amniotic membrane:	n/a
27	chr2:67442559-67442609	U87	brain:	n/a
28	chr2:67442562-67442612	AG10803	skin:	n/a
29	chr2:67313452-67313502	GM06990	blood:	n/a
30	chr2:67313452-67313502	T-47D	breast:	n/a
31	chr2:67312514-67312564	SK-N-SH_RA	brain:	n/a
32	chr2:67312537-67312587	HRE	kidney:	n/a
33	chr2:67442562-67442612	NB4	blood:	n/a
34	chr2:67312537-67312587	LNCaP	prostate:	n/a
35	chr2:67312537-67312587	ProgFib	skin:	n/a
36	chr2:67299624-67299674	HEEpiC	esophagus:	n/a
37	chr2:67313452-67313502	ECC-1	luminal epithelium:	n/a
38	chr2:67312537-67312587	HepG2	liver:	n/a
39	chr2:67442562-67442612	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:67312514-67312564	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:67313452-67313502	U87	brain:	n/a
42	chr2:67461943-67461993	HL-60	blood:	n/a
43	chr2:67461943-67461993	AG09319	gingival:	n/a
44	chr2:67313452-67313502	HCM	heart:	n/a
45	chr2:67312514-67312564	ovcar-3	ovarian:	n/a
46	chr2:67442562-67442612	MCF10A-Er-Src	breast:	n/a
47	chr2:67442559-67442609	Caco-2	colon:	n/a
48	chr2:67442562-67442612	ovcar-3	ovarian:	n/a
49	chr2:67357640-67357690	HUVEC	blood vessel:	n/a
50	chr2:67299624-67299674	HCM	heart:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-13	chr2:67404593-67404843	NONHSAT071270
2	lnc-ETAA1-15	chr2:67310035-67310131	NONHSAT071260
3	lnc-ETAA1-16	chr2:67368392-67368454	NONHSAT071254
4	lnc-ETAA1-16	chr2:67349120-67349274	ucscGeneNc_uc002sdx_2
5	lnc-C1D-14	chr2:67295864-67295913	NONHSAT071257
6	lnc-ETAA1-16	chr2:67376504-67376711	NONHSAT071254
7	lnc-ETAA1-16	chr2:67369719-67369875	ucscGeneNc_uc002sdx_2
8	lnc-C1D-3	chr2:67440771-67440848	XLOC_002142
9	lnc-C1D-3	chr2:67391669-67391719	XLOC_002142
10	lnc-ETAA1-16	chr2:67368392-67368454	ucscGeneNc_uc002sdx_2
11	lnc-ETAA1-6	chr2:67456531-67456627	ENSG00000230906.2
12	lnc-C1D-3	chr2:67350489-67351995	XLOC_002142
13	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
14	lnc-ETAA1-15	chr2:67324948-67325210	NONHSAT071260
15	lnc-ETAA1-16	chr2:67369719-67370030	NONHSAT071263
16	lnc-ETAA1-16	chr2:67349120-67349274	NONHSAT071254
17	lnc-ETAA1-6	chr2:67408120-67408355	ENSG00000230906.2
18	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
19	lnc-C1D-14	chr2:67295864-67295955	NONHSAT071255
20	lnc-C1D-3	chr2:67353378-67353522	XLOC_002142
21	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
22	lnc-ETAA1-16	chr2:67369719-67370060	NONHSAT071254
23	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
24	lnc-ETAA1-6	chr2:67348944-67348984	XLOC_001511
25	lnc-C1D-3	chr2:67353378-67353522	XLOC_002142
26	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
27	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
28	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
29	lnc-C1D-3	chr2:67373700-67373790	XLOC_002142
30	lnc-ETAA1-6	chr2:67348944-67349002	ENSG00000230906.2
31	lnc-C1D-3	chr2:67404714-67405124	XLOC_002142
32	lnc-C1D-3	chr2:67402449-67402831	XLOC_002142
33	lnc-ETAA1-16	chr2:67341439-67341843	NONHSAT071263
34	lnc-ETAA1-5	chr2:67313578-67313687	XLOC_001512
35	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
36	lnc-C1D-3	chr2:67440771-67440900	XLOC_002142
37	lnc-ETAA1-16	chr2:67345633-67345828	ucscGeneNc_uc002sdx_2
38	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
39	lnc-ETAA1-3	chr2:67440540-67440627	ENSG00000230906
40	lnc-C1D-3	chr2:67375469-67375569	XLOC_002142
41	lnc-C1D-3	chr2:67351802-67351995	XLOC_002142
42	lnc-C1D-3	chr2:67442360-67442466	XLOC_002142
43	lnc-ETAA1-3	chr2:67456531-67456627	ENSG00000230906
44	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
45	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
46	lnc-C1D-3	chr2:67442360-67442451	XLOC_002142
47	lnc-ETAA1-12	chr2:67405263-67405611	NONHSAT071271
48	lnc-ETAA1-16	chr2:67345633-67345828	NONHSAT071254
49	lnc-C1D-3	chr2:67442360-67442409	XLOC_002142
50	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142

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

Extended variants
information (count: 6340 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:6340 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181750953	chr2:67287297-67287298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567329748	chr2:67287318-67287319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139871260	chr2:67287326-67287327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149756388	chr2:67287333-67287334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544810955	chr2:67287357-67287358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558181172	chr2:67287387-67287388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72890028	chr2:67287458-67287459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543853602	chr2:67287488-67287489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560973599	chr2:67287530-67287531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530306515	chr2:67287533-67287534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187339074	chr2:67287586-67287587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191061263	chr2:67287640-67287641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144592952	chr2:67287688-67287689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367920622	chr2:67287715-67287716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12989162	chr2:67287733-67287734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182122164	chr2:67287747-67287748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531869545	chr2:67287761-67287762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148463227	chr2:67287765-67287766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186767430	chr2:67287771-67287772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114238546	chr2:67287815-67287816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553188320	chr2:67287862-67287863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189807089	chr2:67287867-67287868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538441190	chr2:67287879-67287880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142628899	chr2:67287881-67287882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558369272	chr2:67287925-67287926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574977706	chr2:67287926-67287927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72890031	chr2:67287931-67287932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554388179	chr2:67287935-67287936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10165946	chr2:67287945-67287946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146474451	chr2:67287954-67287955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72890032	chr2:67288013-67288014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76987426	chr2:67288031-67288032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563002125	chr2:67288066-67288067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72823987	chr2:67288067-67288068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74916425	chr2:67288074-67288075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548631640	chr2:67288090-67288091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544971790	chr2:67288098-67288099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72890033	chr2:67288112-67288113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527635642	chr2:67288113-67288114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140906212	chr2:67288175-67288176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72890036	chr2:67288204-67288205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143266544	chr2:67288246-67288247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183080971	chr2:67288254-67288255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569005086	chr2:67288288-67288289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537654706	chr2:67288291-67288292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188028755	chr2:67288293-67288294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574496220	chr2:67288295-67288296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533773429	chr2:67288296-67288297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12622040	chr2:67288348-67288349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564357575	chr2:67288356-67288357	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:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67283600-67292200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:67285000-67290000	Weak transcription	Pancreas	Pancrea
3	chr2:67287200-67287400	ZNF genes & repeats	Fetal Lung	lung
4	chr2:67287400-67287600	Weak transcription	Fetal Lung	lung
5	chr2:67290000-67290200	Enhancers	Pancreas	Pancrea
6	chr2:67291600-67292600	Enhancers	Liver	Liver
7	chr2:67291600-67293200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:67292200-67293400	Enhancers	Colon Smooth Muscle	Colon
9	chr2:67293200-67294600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:67293400-67294600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:67294200-67294800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:67294200-67295000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:67294600-67294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:67294600-67294800	Enhancers	Colon Smooth Muscle	Colon
15	chr2:67294600-67294800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:67294800-67295000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:67294800-67295000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:67294800-67295200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:67295000-67295200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:67295000-67295400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:67295200-67295400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:67295400-67299600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:67295400-67301600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:67298200-67298800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:67298800-67299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:67299600-67299800	Enhancers	Colon Smooth Muscle	Colon
27	chr2:67299800-67300000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:67299800-67300200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:67300200-67303600	Enhancers	Colon Smooth Muscle	Colon
30	chr2:67301600-67302200	Enhancers	Fetal Lung	lung
31	chr2:67301600-67303800	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:67302200-67302600	Weak transcription	Fetal Lung	lung
33	chr2:67302600-67303800	Enhancers	Fetal Lung	lung
34	chr2:67303600-67306200	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:67303800-67307000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:67303800-67307200	Weak transcription	Fetal Lung	lung
37	chr2:67304600-67305400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:67306200-67307400	Enhancers	Colon Smooth Muscle	Colon
39	chr2:67307000-67307400	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:67307200-67308200	ZNF genes & repeats	Fetal Lung	lung
41	chr2:67307400-67307600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:67307400-67307600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:67307600-67307800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr2:67307600-67308200	ZNF genes & repeats	Colon Smooth Muscle	Colon
45	chr2:67307800-67310200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:67308200-67308600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:67308200-67309000	Weak transcription	Fetal Lung	lung
48	chr2:67308600-67313600	Enhancers	Colon Smooth Muscle	Colon
49	chr2:67309000-67313400	Enhancers	Fetal Lung	lung
50	chr2:67309800-67311600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links