Variant report

Variant	nsv469462
Chromosome Location	chr12:67361657-67475906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:892)
CpG islands
(count:857)
Chromatin interactive
region (count:62)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:67436463-67436748	K562	blood:	n/a	n/a
2	BACH1	chr12:67463489-67463633	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr12:67439672-67439680	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:67401437-67401731	K562	blood:	n/a	chr12:67401555-67401566 chr12:67401555-67401568
5	CEBPB	chr12:67389876-67390194	K562	blood:	n/a	chr12:67390014-67390025
6	CEBPB	chr12:67370409-67370670	A549	lung:	n/a	chr12:67370540-67370551
7	CEBPB	chr12:67401408-67401689	HepG2	liver:	n/a	chr12:67401555-67401566 chr12:67401555-67401568
8	CEBPB	chr12:67428749-67429258	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:67427956-67428326	MCF-7	breast:	n/a	n/a
10	CEBPB	chr12:67456065-67456309	H1-hESC	embryonic stem cell:	n/a	chr12:67456162-67456173
11	CEBPB	chr12:67456110-67456227	HepG2	liver:	n/a	chr12:67456162-67456173
12	CEBPB	chr12:67442254-67442352	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:67401383-67401739	IMR90	lung:	n/a	chr12:67401555-67401566 chr12:67401555-67401568
14	CEBPB	chr12:67370407-67370706	IMR90	lung:	n/a	chr12:67370540-67370551
15	CEBPB	chr12:67389880-67390197	IMR90	lung:	n/a	chr12:67390014-67390025
16	CEBPB	chr12:67420656-67420959	MCF-7	breast:	n/a	n/a
17	CEBPB	chr12:67392994-67393245	MCF-7	breast:	n/a	n/a
18	CEBPB	chr12:67420691-67420895	K562	blood:	n/a	n/a
19	CEBPB	chr12:67420597-67420925	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:67419361-67419561	K562	blood:	n/a	n/a
21	CEBPB	chr12:67393081-67393154	K562	blood:	n/a	n/a
22	CEBPB	chr12:67370388-67370639	HepG2	liver:	n/a	chr12:67370540-67370551
23	CEBPB	chr12:67389862-67390183	HepG2	liver:	n/a	chr12:67390014-67390025
24	CEBPB	chr12:67365683-67365943	HepG2	liver:	n/a	chr12:67365771-67365782
25	CEBPB	chr12:67442188-67442421	K562	blood:	n/a	n/a
26	CEBPB	chr12:67389856-67390176	Hela-S3	cervix:	n/a	chr12:67390014-67390025
27	CEBPB	chr12:67389928-67390212	H1-hESC	embryonic stem cell:	n/a	chr12:67390014-67390025
28	CEBPB	chr12:67389865-67390202	A549	lung:	n/a	chr12:67390014-67390025
29	CEBPB	chr12:67442175-67442465	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:67417754-67417885	HepG2	liver:	n/a	n/a
31	CHD1	chr12:67462775-67462869	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:67463318-67463403	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:67474121-67474235	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr12:67463690-67463734	HepG2	liver:	n/a	n/a
35	CHD2	chr12:67409880-67409892	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr12:67463554-67463960	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr12:67462779-67463089	A549	lung:	n/a	n/a
38	CREB1	chr12:67463186-67463537	A549	lung:	n/a	n/a
39	CTBP2	chr12:67463348-67464145	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr12:67436706-67437024	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr12:67419400-67419550	AG09319	gingival:	n/a	chr12:67419471-67419489 chr12:67419473-67419494
42	CTCF	chr12:67419400-67419550	GM12864	blood:	n/a	chr12:67419471-67419489 chr12:67419473-67419494
43	CTCF	chr12:67411980-67412130	HMEC	breast:	n/a	n/a
44	CTCF	chr12:67419380-67419530	K562	blood:	n/a	chr12:67419471-67419489 chr12:67419473-67419494
45	CTCF	chr12:67419380-67419530	NHEK	skin:	n/a	chr12:67419471-67419489 chr12:67419473-67419494
46	CTCF	chr12:67420817-67420907	GM13976	blood:	n/a	n/a
47	CTCF	chr12:67419760-67419910	HVMF	connective:	n/a	n/a
48	CTCF	chr12:67419400-67419550	GM12875	blood:	n/a	chr12:67419471-67419489 chr12:67419473-67419494
49	CTCF	chr12:67411820-67411970	HEK293	kidney:	n/a	n/a
50	CTCF	chr12:67419388-67419547	SK-N-SH_RA	brain:	n/a	chr12:67419471-67419489 chr12:67419473-67419494

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:67411708-67411758	AG04449	skin:	fetal
2	chr12:67439808-67439858	HUVEC	blood vessel:	n/a
3	chr12:67461690-67461740	BE2_C	brain:	n/a
4	chr12:67411708-67411758	AG04449	skin:	fetal
5	chr12:67439808-67439858	HUVEC	blood vessel:	n/a
6	chr12:67461690-67461740	BE2_C	brain:	n/a
7	chr12:67473004-67473054	GM12891	blood:	n/a
8	chr12:67462881-67462931	HCPEpiC	choroid plexus:	n/a
9	chr12:67463281-67463331	NHBE	bronchial:	n/a
10	chr12:67428885-67428935	PrEC	prostate:	n/a
11	chr12:67411708-67411758	HRCEpiC	kidney:	n/a
12	chr12:67473004-67473054	NT2-D1	testis:	n/a
13	chr12:67439808-67439858	PrEC	prostate:	n/a
14	chr12:67462881-67462931	HRPEpiC	eye:	n/a
15	chr12:67473004-67473054	AG09319	gingival:	n/a
16	chr12:67461690-67461740	AG04449	skin:	fetal
17	chr12:67473004-67473054	ECC-1	luminal epithelium:	n/a
18	chr12:67411708-67411758	HAEpiC	amniotic membrane:	n/a
19	chr12:67460034-67460084	HCT-116	colon:	n/a
20	chr12:67428885-67428935	HIPEpiC	eye:	n/a
21	chr12:67462522-67462572	HRCEpiC	kidney:	n/a
22	chr12:67463828-67463878	SK-N-MC	brain:	n/a
23	chr12:67439808-67439858	HAEpiC	amniotic membrane:	n/a
24	chr12:67460034-67460084	RPTEC	kidney:	n/a
25	chr12:67462522-67462572	RPTEC	kidney:	n/a
26	chr12:67462881-67462931	ovcar-3	ovarian:	n/a
27	chr12:67465786-67465836	U87	brain:	n/a
28	chr12:67460034-67460084	AG04450	lung:	fetal
29	chr12:67428885-67428935	T-47D	breast:	n/a
30	chr12:67465081-67465131	SK-N-SH_RA	brain:	n/a
31	chr12:67463828-67463878	AG04449	skin:	fetal
32	chr12:67463258-67463308	SK-N-MC	brain:	n/a
33	chr12:67460034-67460084	AG10803	skin:	n/a
34	chr12:67461558-67461608	GM06990	blood:	n/a
35	chr12:67462881-67462931	HRCEpiC	kidney:	n/a
36	chr12:67462522-67462572	MCF-7	breast:	n/a
37	chr12:67463258-67463308	SK-N-SH	brain:	n/a
38	chr12:67428885-67428935	MCF10A-Er-Src	breast:	n/a
39	chr12:67428885-67428935	SK-N-SH_RA	brain:	n/a
40	chr12:67460034-67460084	GM12878	blood:	n/a
41	chr12:67462881-67462931	HMEC	breast:	n/a
42	chr12:67463281-67463331	HCT-116	colon:	n/a
43	chr12:67462881-67462931	AG09309	skin:	n/a
44	chr12:67465786-67465836	HL-60	blood:	n/a
45	chr12:67462522-67462572	Hepatocyte	liver:	n/a
46	chr12:67463281-67463331	BJ	skin:	n/a
47	chr12:67461558-67461608	PrEC	prostate:	n/a
48	chr12:67463258-67463308	RPTEC	kidney:	n/a
49	chr12:67461558-67461608	MCF-7	breast:	n/a
50	chr12:67463281-67463331	HCF	heart:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:67262259..67265055-chr12:67432650..67435604,2	MCF-7	breast:
2	chr12:67432681..67436154-chr12:67437903..67440752,3	K562	blood:
3	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
4	chr12:67440037..67442357-chr12:67448865..67450952,2	MCF-7	breast:
5	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:
6	chr12:67475770..67479143-chr12:67480530..67483271,3	MCF-7	breast:
7	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
8	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
9	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
10	chr12:67310671..67312914-chr12:67463080..67465006,2	MCF-7	breast:
11	chr12:67419197..67419716-chr12:67554308..67555068,2	MCF-7	breast:
12	chr12:67463389..67464966-chr12:67474386..67476237,2	MCF-7	breast:
13	chr12:67471853..67474414-chr12:67474964..67477043,2	K562	blood:
14	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:
15	chr12:67450673..67453146-chr12:67456109..67459065,2	MCF-7	breast:
16	chr12:67436694..67438476-chr12:67441715..67443438,2	MCF-7	breast:
17	chr12:67432681..67436154-chr12:67437903..67440752,3	K562	blood:
18	chr12:67460367..67464425-chr12:67465973..67473216,9	MCF-7	breast:
19	chr12:67297865..67298411-chr12:67461007..67461777,2	MCF-7	breast:
20	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
21	chr12:67461284..67462231-chr12:67613205..67614026,3	MCF-7	breast:
22	chr12:67430001..67432291-chr12:67437281..67438811,2	K562	blood:
23	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
24	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:
25	chr12:67447609..67449883-chr12:67461584..67464415,2	MCF-7	breast:
26	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:
27	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
28	chr12:67418551..67421085-chr12:67462574..67464115,2	MCF-7	breast:
29	chr12:67431904..67434505-chr12:67437825..67439671,2	MCF-7	breast:
30	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
31	chr12:67436694..67438476-chr12:67441715..67443438,2	MCF-7	breast:
32	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
33	chr12:67418711..67421143-chr12:67461098..67463852,2	MCF-7	breast:
34	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
35	chr12:67440394..67442978-chr12:67461557..67463227,2	MCF-7	breast:
36	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
37	chr12:67418734..67420386-chr12:67615976..67617354,5	MCF-7	breast:
38	chr12:67435225..67438016-chr12:67462068..67464213,3	MCF-7	breast:
39	chr12:67462768..67464522-chr12:67660868..67664362,4	MCF-7	breast:
40	chr12:67461087..67461964-chr12:67614042..67614668,2	MCF-7	breast:
41	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
42	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
43	chr12:67471853..67474414-chr12:67474964..67477043,2	K562	blood:
44	chr12:67426397..67429234-chr12:67432372..67434207,2	MCF-7	breast:
45	chr12:67459525..67462456-chr12:67462804..67465110,3	MCF-7	breast:
46	chr12:67431904..67434505-chr12:67437825..67439671,2	MCF-7	breast:
47	chr12:67427801..67429631-chr12:67463165..67465076,2	MCF-7	breast:
48	chr12:67426397..67429234-chr12:67432372..67434207,2	MCF-7	breast:
49	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
50	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
2	lnc-CAND1-3	chr12:67473335-67473923	l_674_chr12:67463829-67473923_lymphNode
3	lnc-GRIP1-1	chr12:67462830-67462942	ENSG00000256248
4	lnc-GRIP1-2	chr12:67431165-67431272	ENSG00000257083
5	lnc-CAND1-3	chr12:67463830-67463879	l_674_chr12:67463829-67473923_lymphNode
6	lnc-GRIP1-2	chr12:67429288-67429443	ENSG00000257083
7	lnc-GRIP1-2	chr12:67471406-67471524	ENSG00000257083
8	lnc-GRIP1-6	chr12:67458770-67459058	NONHSAT029237

No data

Variant related genes	Relation type
ENSG00000256248	TF binding region
ENSG00000256248	CpG island
ENSG00000256248	chromatin interactions
ENSG00000111530	chromatin interactions
ENSG00000257083	chromatin interactions

Extended variants
information (count: 4117 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4117 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4277193	chr12:67361657-67361658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192994726	chr12:67361693-67361694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376981392	chr12:67361792-67361793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545433281	chr12:67361851-67361852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537940298	chr12:67361889-67361890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537430737	chr12:67361927-67361928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556217221	chr12:67361991-67361992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376298799	chr12:67362083-67362084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556340664	chr12:67362156-67362157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568286562	chr12:67362158-67362159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150371660	chr12:67362159-67362160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184813796	chr12:67362181-67362182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71453887	chr12:67362200-67362201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12828958	chr12:67362201-67362202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540268764	chr12:67362221-67362222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558575880	chr12:67362225-67362226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558521245	chr12:67362238-67362239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571817186	chr12:67362243-67362244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540768519	chr12:67362300-67362301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544280382	chr12:67362303-67362304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114680799	chr12:67362315-67362316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189667448	chr12:67362340-67362341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541645363	chr12:67362362-67362363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111516975	chr12:67362433-67362434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527589956	chr12:67362450-67362451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6581726	chr12:67362499-67362500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149837639	chr12:67362500-67362501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531712468	chr12:67362501-67362502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549829171	chr12:67362513-67362514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74584250	chr12:67362553-67362554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376689390	chr12:67362573-67362574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200745817	chr12:67362575-67362576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113083779	chr12:67362577-67362578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112984762	chr12:67362594-67362595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2174294	chr12:67362612-67362613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547669010	chr12:67362634-67362635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575370314	chr12:67362639-67362640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566402055	chr12:67362691-67362692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540096048	chr12:67362701-67362702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558591542	chr12:67362709-67362710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145508185	chr12:67362747-67362748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1604841	chr12:67362788-67362789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556330701	chr12:67362858-67362859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377164315	chr12:67362867-67362868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563563097	chr12:67362909-67362910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566315480	chr12:67362914-67362915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11176505	chr12:67362939-67362940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542055950	chr12:67362940-67362941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7303689	chr12:67362995-67362996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111545248	chr12:67363001-67363002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67355600-67370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67359800-67364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:67360800-67364000	Weak transcription	Primary T cells from cord blood	blood
4	chr12:67362800-67363200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:67364000-67365000	Enhancers	Primary T cells from cord blood	blood
6	chr12:67364200-67364800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:67370000-67371000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:67371000-67375600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:67371200-67371400	Enhancers	Colon Smooth Muscle	Colon
10	chr12:67371400-67372200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:67372200-67372600	Enhancers	Colon Smooth Muscle	Colon
12	chr12:67372200-67372800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67372600-67373000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:67372600-67373000	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:67372600-67374000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:67373000-67373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:67373000-67373400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:67373200-67373800	Enhancers	Fetal Brain Male	brain
19	chr12:67373400-67373600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:67373400-67373600	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:67373600-67377800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:67373600-67381400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:67374000-67374200	Enhancers	Colon Smooth Muscle	Colon
24	chr12:67374200-67374600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:67374600-67374800	Enhancers	Colon Smooth Muscle	Colon
26	chr12:67374800-67377600	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:67375200-67375400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:67375400-67376000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:67375600-67376600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:67376000-67376800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:67376000-67377000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:67376200-67376600	ZNF genes & repeats	Aorta	Aorta
33	chr12:67376600-67378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:67377600-67379200	Enhancers	Colon Smooth Muscle	Colon
35	chr12:67377800-67378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:67377800-67379200	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:67378400-67379000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:67378600-67379000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:67378800-67379200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:67378800-67379200	Enhancers	NHEK	skin
41	chr12:67379200-67381200	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:67379200-67382600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:67381200-67381600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:67381200-67381800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:67381200-67381800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:67381200-67381800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:67381200-67381800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:67381200-67381800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:67381200-67381800	Enhancers	Colon Smooth Muscle	Colon
50	chr12:67381400-67381600	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links