Variant report

Variant	nsv1042117
Chromosome Location	chr12:67171949-67257435
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	ARID3A	chr12:67254992-67255139	K562	blood:	n/a	n/a
2	ARID3A	chr12:67254981-67255261	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:67216767-67217265	A549	lung:	n/a	chr12:67216932-67216943
4	CEBPB	chr12:67217824-67218366	A549	lung:	n/a	n/a
5	CEBPB	chr12:67216684-67217075	MCF-7	breast:	n/a	chr12:67216932-67216943
6	CEBPB	chr12:67238358-67238680	A549	lung:	n/a	chr12:67238537-67238548
7	CEBPB	chr12:67216766-67217108	K562	blood:	n/a	chr12:67216932-67216943
8	CEBPB	chr12:67229596-67229628	A549	lung:	n/a	n/a
9	CEBPB	chr12:67216755-67217217	IMR90	lung:	n/a	chr12:67216932-67216943
10	CEBPB	chr12:67178069-67178104	HepG2	liver:	n/a	n/a
11	CEBPB	chr12:67217733-67218325	MCF-7	breast:	n/a	n/a
12	CEBPB	chr12:67217673-67218383	MCF-7	breast:	n/a	n/a
13	CEBPB	chr12:67238386-67238695	HepG2	liver:	n/a	chr12:67238537-67238548
14	CEBPB	chr12:67216689-67217186	MCF-7	breast:	n/a	chr12:67216932-67216943
15	CEBPB	chr12:67205932-67205978	K562	blood:	n/a	n/a
16	CEBPB	chr12:67207257-67207342	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr12:67216756-67217273	Hela-S3	cervix:	n/a	chr12:67216932-67216943
18	CEBPB	chr12:67216752-67217214	HepG2	liver:	n/a	chr12:67216932-67216943
19	CEBPB	chr12:67252792-67252817	A549	lung:	n/a	chr12:67252801-67252812 chr12:67252799-67252812
20	CREB1	chr12:67255012-67255277	A549	lung:	n/a	n/a
21	CTCF	chr12:67255080-67255230	GM12866	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
22	CTCF	chr12:67255060-67255210	HVMF	connective:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
23	CTCF	chr12:67254987-67255276	Gliobla	brain:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
24	CTCF	chr12:67255080-67255230	NHEK	skin:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
25	CTCF	chr12:67255060-67255210	AG10803	skin:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
26	CTCF	chr12:67254992-67255244	GM19238	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
27	CTCF	chr12:67254500-67254650	AG10803	skin:	n/a	n/a
28	CTCF	chr12:67255080-67255230	RPTEC	kidney:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
29	CTCF	chr12:67255009-67255230	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
30	CTCF	chr12:67254874-67255372	HCT-116	colon:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
31	CTCF	chr12:67255080-67255230	GM12874	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
32	CTCF	chr12:67255060-67255210	WERI-Rb-1	eye:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
33	CTCF	chr12:67254995-67255242	GM12892	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
34	CTCF	chr12:67255000-67255150	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
35	CTCF	chr12:67255000-67255150	GM12869	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
36	CTCF	chr12:67254422-67255526	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
37	CTCF	chr12:67255025-67255205	GM12891	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
38	CTCF	chr12:67255060-67255210	AG09319	gingival:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
39	CTCF	chr12:67255006-67255253	HepG2	liver:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
40	CTCF	chr12:67254990-67255261	Hela-S3	cervix:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
41	CTCF	chr12:67255080-67255230	GM12873	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
42	CTCF	chr12:67254981-67255264	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
43	CTCF	chr12:67255040-67255190	GM06990	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
44	CTCF	chr12:67254921-67255286	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
45	CTCF	chr12:67255040-67255190	GM12864	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
46	CTCF	chr12:67255020-67255170	HMEC	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
47	CTCF	chr12:67255040-67255190	HFF-Myc	foreskin:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
48	CTCF	chr12:67255040-67255190	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
49	CTCF	chr12:67255060-67255210	HFF-Myc	foreskin:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
50	CTCF	chr12:67255005-67255227	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:67197851-67197901	PrEC	prostate:	n/a
2	chr12:67192853-67192903	MCF-7	breast:	n/a
3	chr12:67197936-67197986	AG04450	lung:	fetal
4	chr12:67197936-67197986	NHBE	bronchial:	n/a
5	chr12:67192853-67192903	GM12878	blood:	n/a
6	chr12:67197851-67197901	SKMC	muscle:	n/a
7	chr12:67192853-67192903	AG10803	skin:	n/a
8	chr12:67197936-67197986	RPTEC	kidney:	n/a
9	chr12:67197936-67197986	NHDF-neo	bronchial:	n/a
10	chr12:67197936-67197986	HL-60	blood:	n/a
11	chr12:67197851-67197901	NT2-D1	testis:	n/a
12	chr12:67197984-67198034	HRPEpiC	eye:	n/a
13	chr12:67192853-67192903	HRPEpiC	eye:	n/a
14	chr12:67197936-67197986	AG09319	gingival:	n/a
15	chr12:67192853-67192903	HCF	heart:	n/a
16	chr12:67197851-67197901	NB4	blood:	n/a
17	chr12:67197851-67197901	ECC-1	luminal epithelium:	n/a
18	chr12:67197851-67197901	CMK	blood:	n/a
19	chr12:67197851-67197901	NHDF-neo	bronchial:	n/a
20	chr12:67197984-67198034	AG09309	skin:	n/a
21	chr12:67197984-67198034	T-47D	breast:	n/a
22	chr12:67197984-67198034	MCF-7	breast:	n/a
23	chr12:67197851-67197901	BJ	skin:	n/a
24	chr12:67192853-67192903	SAEC	small airway:	n/a
25	chr12:67197984-67198034	HCM	heart:	n/a
26	chr12:67197984-67198034	GM12892	blood:	n/a
27	chr12:67197936-67197986	ECC-1	luminal epithelium:	n/a
28	chr12:67192853-67192903	HEEpiC	esophagus:	n/a
29	chr12:67197984-67198034	GM06990	blood:	n/a
30	chr12:67192853-67192903	HCT-116	colon:	n/a
31	chr12:67197984-67198034	Hela-S3	cervix:	n/a
32	chr12:67197851-67197901	HEK293	kidney:	embryo
33	chr12:67197851-67197901	GM12892	blood:	n/a
34	chr12:67197984-67198034	HNPCEpiC	eye:	n/a
35	chr12:67197936-67197986	T-47D	breast:	n/a
36	chr12:67197984-67198034	GM12891	blood:	n/a
37	chr12:67197936-67197986	GM12878	blood:	n/a
38	chr12:67197984-67198034	NT2-D1	testis:	n/a
39	chr12:67197936-67197986	PANC-1	pancreas:	n/a
40	chr12:67192853-67192903	HRCEpiC	kidney:	n/a
41	chr12:67197936-67197986	HNPCEpiC	eye:	n/a
42	chr12:67197984-67198034	PFSK-1	brain:	n/a
43	chr12:67197851-67197901	HIPEpiC	eye:	n/a
44	chr12:67197984-67198034	PrEC	prostate:	n/a
45	chr12:67192853-67192903	HepG2	liver:	n/a
46	chr12:67197851-67197901	GM12891	blood:	n/a
47	chr12:67197936-67197986	HMEC	breast:	n/a
48	chr12:67197851-67197901	AG09319	gingival:	n/a
49	chr12:67197984-67198034	BE2_C	brain:	n/a
50	chr12:67192853-67192903	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:67253380..67256928-chr12:67258329..67261239,3	K562	blood:
2	chr12:67197849..67200436-chr12:67204099..67206299,2	K562	blood:
3	chr12:67173926..67176766-chr12:67210508..67212832,2	MCF-7	breast:
4	chr12:67092019..67092945-chr12:67254522..67255578,9	MCF-7	breast:
5	chr12:67255252..67257877-chr12:67460950..67463258,3	MCF-7	breast:
6	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:
7	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
8	chr12:67208944..67211936-chr12:67215045..67216994,2	K562	blood:
9	chr12:67174375..67176870-chr12:67178960..67180503,2	K562	blood:
10	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:
11	chr12:67208944..67211936-chr12:67215045..67216994,2	K562	blood:
12	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
13	chr12:67173926..67176766-chr12:67210508..67212832,2	MCF-7	breast:
14	chr12:67193227..67194822-chr12:67197221..67199274,2	MCF-7	breast:
15	chr12:67174375..67176870-chr12:67178960..67180503,2	K562	blood:
16	chr12:67075881..67076642-chr12:67254630..67255196,2	MCF-7	breast:
17	chr12:67197849..67199448-chr12:67204005..67205599,2	K562	blood:
18	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
19	chr12:67110471..67111538-chr12:67254403..67256131,14	MCF-7	breast:
20	chr12:67181348..67184002-chr12:67184358..67185894,2	K562	blood:
21	chr12:67184228..67185827-chr12:67187513..67190445,3	MCF-7	breast:
22	chr12:67082373..67083323-chr12:67255078..67255633,2	MCF-7	breast:
23	chr12:67110006..67111455-chr12:67254721..67255586,6	MCF-7	breast:
24	chr12:67253647..67256314-chr12:67565336..67566847,2	K562	blood:
25	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
26	chr12:67184228..67185827-chr12:67187513..67190445,3	MCF-7	breast:
27	chr12:67082410..67083294-chr12:67254648..67255604,5	MCF-7	breast:
28	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
29	chr12:67181348..67184002-chr12:67184358..67185894,2	K562	blood:
30	chr12:67109764..67110463-chr12:67254735..67255402,2	MCF-7	breast:

Variant related genes	Relation type
GRIP1	TF binding region
GRIP1	CpG island
ENSG00000256248	chromatin interactions
ENSG00000155974	chromatin interactions

Extended variants
information (count: 2958 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2958 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1480024	chr12:67171949-67171950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574077636	chr12:67171967-67171968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73130836	chr12:67171968-67171969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553444360	chr12:67171979-67171980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569178110	chr12:67172016-67172017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558778575	chr12:67172049-67172050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201879639	chr12:67172050-67172051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184359537	chr12:67172056-67172057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571770277	chr12:67172071-67172072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116059306	chr12:67172105-67172106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17102907	chr12:67172123-67172124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576187521	chr12:67172174-67172175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2046065	chr12:67172213-67172214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562004678	chr12:67172238-67172239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529302355	chr12:67172244-67172245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572832081	chr12:67172259-67172260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541389711	chr12:67172329-67172330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559792480	chr12:67172366-67172367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545136909	chr12:67172376-67172377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12581011	chr12:67172390-67172391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551604185	chr12:67172391-67172392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187986030	chr12:67172565-67172566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182009438	chr12:67172590-67172591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186245035	chr12:67172602-67172603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567663550	chr12:67172659-67172660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111536081	chr12:67172682-67172683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553321238	chr12:67172683-67172684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565360230	chr12:67172730-67172731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551198964	chr12:67172750-67172751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557602839	chr12:67172856-67172857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151134740	chr12:67172876-67172877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543298896	chr12:67172894-67172895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140247785	chr12:67172918-67172919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573940891	chr12:67173014-67173015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534693186	chr12:67173109-67173110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190611776	chr12:67173159-67173160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559754419	chr12:67173216-67173217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533198837	chr12:67173277-67173278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537736938	chr12:67173358-67173359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145278511	chr12:67173377-67173378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531128115	chr12:67173379-67173380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114896528	chr12:67173387-67173388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567538793	chr12:67173405-67173406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528735560	chr12:67173408-67173409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181490313	chr12:67173415-67173416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376970257	chr12:67173479-67173480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565656624	chr12:67173540-67173541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539104279	chr12:67173554-67173555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186840634	chr12:67173622-67173623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554574612	chr12:67173645-67173646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67168800-67172600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:67169000-67175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:67169200-67174400	Weak transcription	Fetal Kidney	kidney
4	chr12:67169800-67172000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:67169800-67172400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:67169800-67185200	Weak transcription	Pancreas	Pancrea
7	chr12:67171000-67172400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:67171200-67172200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:67171200-67173400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:67171600-67173000	Enhancers	Primary T cells from cord blood	blood
11	chr12:67172400-67172600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:67172400-67174400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:67173200-67174000	Enhancers	HMEC	breast
14	chr12:67173400-67174800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:67174400-67174600	Enhancers	Fetal Kidney	kidney
16	chr12:67175800-67176000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:67175800-67176400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:67176000-67176600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:67176200-67176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67177800-67178200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:67178200-67192200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:67180400-67181800	Enhancers	Fetal Muscle Leg	muscle
23	chr12:67184600-67185000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:67187400-67187600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:67192200-67192600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:67192400-67195000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:67192600-67196400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:67193000-67194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:67193200-67193600	Enhancers	Fetal Brain Female	brain
30	chr12:67193200-67193600	Enhancers	Stomach Mucosa	stomach
31	chr12:67193200-67193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:67193200-67193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:67193200-67194000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:67193200-67194200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:67193200-67194400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:67193200-67194400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:67193200-67194600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:67193200-67194800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:67193200-67194800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:67193400-67193600	Enhancers	Fetal Heart	heart
41	chr12:67193400-67193800	Enhancers	Fetal Brain Male	brain
42	chr12:67193400-67194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:67193400-67194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:67193600-67194000	Weak transcription	Fetal Brain Female	brain
45	chr12:67193800-67195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:67194000-67194200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:67194000-67194200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:67194000-67194200	Enhancers	Fetal Brain Female	brain
49	chr12:67194000-67197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:67194200-67194400	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links