Variant report

Variant	nsv826182
Chromosome Location	chr12:2136395-2208074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1094)
CpG islands
(count:1342)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:2144210-2144345	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:2144232-2144368	K562	blood:	n/a	n/a
3	ATF3	chr12:2166344-2166792	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:2144205-2144758	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:2163334-2163648	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:2166453-2166942	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:2162549-2163090	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr12:2159066-2159410	GM12878	blood:	n/a	chr12:2159232-2159245 chr12:2159235-2159244 chr12:2159228-2159249
9	BHLHE40	chr12:2144053-2144646	GM12878	blood:	n/a	chr12:2144232-2144248 chr12:2144227-2144243
10	BHLHE40	chr12:2141235-2141295	HepG2	liver:	n/a	n/a
11	BHLHE40	chr12:2166452-2166662	K562	blood:	n/a	n/a
12	BHLHE40	chr12:2144220-2144499	A549	lung:	n/a	chr12:2144232-2144248 chr12:2144227-2144243
13	BHLHE40	chr12:2144034-2144512	HepG2	liver:	n/a	chr12:2144232-2144248 chr12:2144227-2144243
14	BHLHE40	chr12:2144076-2144560	K562	blood:	n/a	chr12:2144232-2144248 chr12:2144227-2144243
15	BHLHE40	chr12:2159089-2159330	HepG2	liver:	n/a	chr12:2159232-2159245 chr12:2159235-2159244 chr12:2159228-2159249
16	BHLHE40	chr12:2141115-2141317	K562	blood:	n/a	n/a
17	BHLHE40	chr12:2159184-2159356	K562	blood:	n/a	chr12:2159232-2159245 chr12:2159235-2159244 chr12:2159228-2159249
18	BRCA1	chr12:2166424-2166705	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr12:2166683-2166688	HepG2	liver:	n/a	n/a
20	BRCA1	chr12:2144220-2144380	HepG2	liver:	n/a	n/a
21	CBX3	chr12:2179694-2179915	K562	blood:	n/a	n/a
22	CBX3	chr12:2143876-2144615	HCT-116	colon:	n/a	n/a
23	CBX3	chr12:2144036-2144345	K562	blood:	n/a	n/a
24	CBX3	chr12:2179661-2179941	K562	blood:	n/a	n/a
25	CBX3	chr12:2179591-2180059	HCT-116	colon:	n/a	n/a
26	CCNT2	chr12:2144108-2144433	K562	blood:	n/a	n/a
27	CEBPB	chr12:2180905-2181197	A549	lung:	n/a	chr12:2181026-2181037 chr12:2181026-2181039
28	CEBPB	chr12:2137819-2138106	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:2144803-2145059	K562	blood:	n/a	chr12:2144977-2144988
30	CEBPB	chr12:2151158-2151238	A549	lung:	n/a	n/a
31	CEBPB	chr12:2204002-2204003	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:2144851-2145070	A549	lung:	n/a	chr12:2144977-2144988
33	CEBPB	chr12:2180912-2181188	IMR90	lung:	n/a	chr12:2181026-2181037 chr12:2181026-2181039
34	CEBPB	chr12:2144847-2145117	HepG2	liver:	n/a	chr12:2144977-2144988
35	CEBPB	chr12:2180890-2181162	HepG2	liver:	n/a	chr12:2181026-2181037 chr12:2181026-2181039
36	CEBPB	chr12:2203779-2204094	IMR90	lung:	n/a	chr12:2203954-2203965 chr12:2203953-2203966
37	CEBPB	chr12:2144191-2144363	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr12:2166411-2166750	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr12:2185257-2185586	IMR90	lung:	n/a	n/a
40	CEBPB	chr12:2193689-2194066	IMR90	lung:	n/a	n/a
41	CEBPB	chr12:2159176-2159388	K562	blood:	n/a	chr12:2159303-2159314 chr12:2159303-2159316 chr12:2159303-2159316 chr12:2159303-2159314
42	CEBPB	chr12:2144841-2145094	IMR90	lung:	n/a	chr12:2144977-2144988
43	CEBPB	chr12:2144154-2144230	K562	blood:	n/a	n/a
44	CEBPB	chr12:2182981-2183175	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:2173084-2173576	IMR90	lung:	n/a	chr12:2173255-2173266
46	CEBPB	chr12:2173105-2173442	HepG2	liver:	n/a	chr12:2173255-2173266
47	CEBPB	chr12:2137813-2138081	A549	lung:	n/a	n/a
48	CHD1	chr12:2161887-2163860	IMR90	lung:	n/a	chr12:2163531-2163541
49	CHD1	chr12:2168204-2168290	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr12:2144158-2144399	GM12878	blood:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2193060-2193110	GM12892	blood:	n/a
2	chr12:2173351-2173401	Hepatocyte	liver:	n/a
3	chr12:2202821-2202871	HepG2	liver:	n/a
4	chr12:2163532-2163582	HAEpiC	amniotic membrane:	n/a
5	chr12:2163532-2163582	SAEC	small airway:	n/a
6	chr12:2161437-2161487	AG10803	skin:	n/a
7	chr12:2198070-2198120	MCF10A-Er-Src	breast:	n/a
8	chr12:2162232-2162282	HMEC	breast:	n/a
9	chr12:2162491-2162541	T-47D	breast:	n/a
10	chr12:2161371-2161421	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:2193060-2193110	PFSK-1	brain:	n/a
12	chr12:2144456-2144506	HCT-116	colon:	n/a
13	chr12:2161371-2161421	HMEC	breast:	n/a
14	chr12:2198113-2198163	AG09309	skin:	n/a
15	chr12:2162130-2162180	Hela-S3	cervix:	n/a
16	chr12:2163608-2163658	A549	lung:	n/a
17	chr12:2144198-2144248	BJ	skin:	n/a
18	chr12:2198113-2198163	HL-60	blood:	n/a
19	chr12:2198034-2198084	H1-hESC	embryonic stem cell:	embryo
20	chr12:2162232-2162282	Jurkat	blood:	n/a
21	chr12:2161371-2161421	NHDF-neo	bronchial:	n/a
22	chr12:2144456-2144506	HRE	kidney:	n/a
23	chr12:2144198-2144248	HRE	kidney:	n/a
24	chr12:2173987-2174037	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:2173987-2174037	SK-N-SH	brain:	n/a
26	chr12:2144198-2144248	RPTEC	kidney:	n/a
27	chr12:2161288-2161338	NT2-D1	testis:	n/a
28	chr12:2163532-2163582	MCF10A-Er-Src	breast:	n/a
29	chr12:2202821-2202871	NB4	blood:	n/a
30	chr12:2173351-2173401	HCF	heart:	n/a
31	chr12:2144456-2144506	A549	lung:	n/a
32	chr12:2173351-2173401	AoSMC	blood vessel:	n/a
33	chr12:2184874-2184924	T-47D	breast:	n/a
34	chr12:2163532-2163582	ovcar-3	ovarian:	n/a
35	chr12:2202821-2202871	SAEC	small airway:	n/a
36	chr12:2163532-2163582	T-47D	breast:	n/a
37	chr12:2144198-2144248	ECC-1	luminal epithelium:	n/a
38	chr12:2162232-2162282	SAEC	small airway:	n/a
39	chr12:2161371-2161421	HNPCEpiC	eye:	n/a
40	chr12:2161640-2161690	AG10803	skin:	n/a
41	chr12:2198034-2198084	SK-N-SH_RA	brain:	n/a
42	chr12:2173351-2173401	HNPCEpiC	eye:	n/a
43	chr12:2166831-2166881	HCF	heart:	n/a
44	chr12:2161288-2161338	HRE	kidney:	n/a
45	chr12:2163608-2163658	HL-60	blood:	n/a
46	chr12:2193060-2193110	GM19239	blood:	n/a
47	chr12:2202821-2202871	T-47D	breast:	n/a
48	chr12:2144198-2144248	GM19239	blood:	n/a
49	chr12:2161437-2161487	HRPEpiC	eye:	n/a
50	chr12:2198113-2198163	NHBE	bronchial:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:2030801..2033183-chr12:2135415..2137754,2	K562	blood:
2	chr12:2160826..2164021-chr12:2166670..2169761,3	MCF-7	breast:
3	chr12:2148340..2150199-chr12:2151794..2153761,2	MCF-7	breast:
4	chr12:2145583..2146140-chr12:2391449..2392036,3	MCF-7	breast:
5	chr12:2146060..2146571-chr12:2393745..2394613,2	MCF-7	breast:
6	chr12:2151953..2154651-chr12:2155069..2157139,3	MCF-7	breast:
7	chr12:2166075..2166709-chr12:2691940..2692766,2	MCF-7	breast:
8	chr12:2144090..2145938-chr12:2158684..2161227,2	MCF-7	breast:
9	chr12:2161300..2162299-chr12:42631805..42632377,2	HCT-116	colon:
10	chr12:2144090..2145938-chr12:2158684..2161227,2	MCF-7	breast:
11	chr12:2148340..2150199-chr12:2151794..2153761,2	MCF-7	breast:
12	chr12:2144515..2146674-chr12:2148962..2151800,2	K562	blood:
13	chr12:2166117..2166680-chr12:2382193..2382914,2	MCF-7	breast:
14	chr12:2166204..2166974-chr12:2393683..2394189,2	MCF-7	breast:
15	chr12:2151953..2154651-chr12:2155069..2157139,3	MCF-7	breast:
16	chr12:2175907..2177546-chr12:2183648..2185921,2	MCF-7	breast:
17	chr12:2175907..2177546-chr12:2183648..2185921,2	MCF-7	breast:
18	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:
19	chr12:2143988..2144629-chr12:2393652..2394189,2	MCF-7	breast:
20	chr12:2113061..2114708-chr12:2137966..2139750,2	MCF-7	breast:
21	chr12:2152850..2155578-chr12:2156397..2158980,3	MCF-7	breast:
22	chr12:2135866..2138762-chr12:2139287..2142446,3	K562	blood:
23	chr12:2152452..2156569-chr12:2159790..2163502,3	K562	blood:
24	chr12:2166512..2167053-chr12:2391182..2391682,2	MCF-7	breast:
25	chr12:2166110..2169668-chr12:2171220..2175217,3	MCF-7	breast:
26	chr12:2144515..2146674-chr12:2148962..2151800,2	K562	blood:
27	chr12:2165569..2167422-chr12:2392867..2394744,2	MCF-7	breast:
28	chr12:2135866..2138762-chr12:2139287..2142446,3	K562	blood:
29	chr12:2161819..2162429-chr12:2394003..2394623,2	MCF-7	breast:
30	chr12:2166132..2166980-chr12:2393277..2394206,2	K562	blood:
31	chr12:2145401..2146012-chr12:2691847..2692721,2	MCF-7	breast:
32	chr12:2191794..2193700-chr12:2194983..2197368,2	MCF-7	breast:
33	chr12:2191794..2193700-chr12:2194983..2197368,2	MCF-7	breast:
34	chr12:2166110..2169668-chr12:2171220..2175217,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRTM2-3	chr12:2157518-2157776	ENSG00000256257.1
2	lnc-LRTM2-3	chr12:2158300-2158629	ENSG00000256257.1

No data

Variant related genes	Relation type
CACNA1C	TF binding region
CACNA1C-IT2	TF binding region
CACNA1C	CpG island
CACNA1C-IT2	CpG island
ENSG00000015153	chromatin interactions
ENSG00000203593	chromatin interactions
ENSG00000151065	chromatin interactions
ENSG00000256257	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000151067	chromatin interactions

Extended variants
information (count: 2771 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573269556	chr12:2136443-2136444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs149381405	chr12:2136464-2136465	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs146355779	chr12:2136479-2136480	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs576596570	chr12:2136541-2136542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs540204965	chr12:2136565-2136566	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564764230	chr12:2136589-2136590	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs113996628	chr12:2136638-2136639	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs532150862	chr12:2136673-2136674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2470418	chr12:2136702-2136703	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs550212415	chr12:2136719-2136720	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs189217440	chr12:2136769-2136770	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563976568	chr12:2136806-2136807	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs181061464	chr12:2136807-2136808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs138417144	chr12:2136818-2136819	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs371912616	chr12:2136824-2136825	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185469335	chr12:2136837-2136838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs555004704	chr12:2136842-2136843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs541799623	chr12:2136876-2136877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs190216794	chr12:2136890-2136891	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35579566	chr12:2136896-2136897	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs561330923	chr12:2137028-2137029	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558448775	chr12:2137054-2137055	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530067780	chr12:2137086-2137087	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576705769	chr12:2137151-2137152	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181488878	chr12:2137190-2137191	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552740300	chr12:2137242-2137243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574522223	chr12:2137270-2137271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541562821	chr12:2137278-2137279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563353618	chr12:2137279-2137280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185931619	chr12:2137280-2137281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192168646	chr12:2137325-2137326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4765879	chr12:2137328-2137329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565603725	chr12:2137353-2137354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563689380	chr12:2137364-2137365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532835688	chr12:2137421-2137422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143017852	chr12:2137444-2137445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55819511	chr12:2137484-2137485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377394800	chr12:2137514-2137515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55923591	chr12:2137543-2137544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567743854	chr12:2137550-2137551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548060561	chr12:2137571-2137572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375187298	chr12:2137663-2137664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370793813	chr12:2137664-2137665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530275858	chr12:2137671-2137672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548410762	chr12:2137673-2137674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75910475	chr12:2137692-2137693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2429143	chr12:2137724-2137725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552137218	chr12:2137749-2137750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546955134	chr12:2137859-2137860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534600909	chr12:2137884-2137885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2132600-2136400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:2132600-2141200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:2132600-2142800	Enhancers	Fetal Heart	heart
4	chr12:2133000-2144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:2134400-2138400	Weak transcription	Right Ventricle	heart
6	chr12:2134400-2144000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:2134600-2138200	Weak transcription	Left Ventricle	heart
8	chr12:2134600-2140400	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:2135800-2138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:2136200-2137200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:2136200-2137200	Bivalent Enhancer	Osteobl	bone
12	chr12:2136400-2137000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:2136400-2137200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:2136400-2137800	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:2136600-2137000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:2136800-2137200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:2137000-2137200	Bivalent Enhancer	NH-A	brain
18	chr12:2137000-2140200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:2137200-2139200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:2137400-2139000	Weak transcription	Right Atrium	heart
21	chr12:2137800-2139800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:2138200-2138400	Enhancers	Left Ventricle	heart
23	chr12:2138200-2138600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:2138400-2139000	Weak transcription	Left Ventricle	heart
25	chr12:2138400-2140800	Enhancers	Right Ventricle	heart
26	chr12:2138600-2144200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:2139000-2139200	Enhancers	Right Atrium	heart
28	chr12:2139000-2142600	Enhancers	Left Ventricle	heart
29	chr12:2139200-2139800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:2139200-2143800	Weak transcription	Right Atrium	heart
31	chr12:2139600-2139800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr12:2139600-2140200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:2139800-2140000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:2139800-2140000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:2139800-2140200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:2139800-2140400	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:2139800-2140800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:2140000-2140600	Enhancers	HMEC	breast
39	chr12:2140200-2140400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:2140400-2140600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:2140400-2140600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:2140400-2140800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:2140400-2140800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:2140400-2141400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:2140400-2141600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:2140600-2144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:2140800-2141200	Weak transcription	Right Ventricle	heart
48	chr12:2140800-2144000	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:2141000-2141200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:2141000-2141800	Enhancers	Brain Cingulate Gyrus	brain

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