Variant report

Variant	nsv1038689
Chromosome Location	chr12:67174430-67257435
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	chr12:67216755-67217217	IMR90	lung:	n/a	chr12:67216932-67216943
4	CEBPB	chr12:67216684-67217075	MCF-7	breast:	n/a	chr12:67216932-67216943
5	CEBPB	chr12:67216766-67217108	K562	blood:	n/a	chr12:67216932-67216943
6	CEBPB	chr12:67207257-67207342	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:67229596-67229628	A549	lung:	n/a	n/a
8	CEBPB	chr12:67217673-67218383	MCF-7	breast:	n/a	n/a
9	CEBPB	chr12:67216767-67217265	A549	lung:	n/a	chr12:67216932-67216943
10	CEBPB	chr12:67252792-67252817	A549	lung:	n/a	chr12:67252801-67252812 chr12:67252799-67252812
11	CEBPB	chr12:67216752-67217214	HepG2	liver:	n/a	chr12:67216932-67216943
12	CEBPB	chr12:67178069-67178104	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:67216689-67217186	MCF-7	breast:	n/a	chr12:67216932-67216943
14	CEBPB	chr12:67216756-67217273	Hela-S3	cervix:	n/a	chr12:67216932-67216943
15	CEBPB	chr12:67217824-67218366	A549	lung:	n/a	n/a
16	CEBPB	chr12:67238358-67238680	A549	lung:	n/a	chr12:67238537-67238548
17	CEBPB	chr12:67205932-67205978	K562	blood:	n/a	n/a
18	CEBPB	chr12:67217733-67218325	MCF-7	breast:	n/a	n/a
19	CEBPB	chr12:67238386-67238695	HepG2	liver:	n/a	chr12:67238537-67238548
20	CREB1	chr12:67255012-67255277	A549	lung:	n/a	n/a
21	CTCF	chr12:67255005-67255227	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
22	CTCF	chr12:67255020-67255170	GM12801	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
23	CTCF	chr12:67255024-67255203	H1-hESC	embryonic stem cell:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
24	CTCF	chr12:67254975-67255276	HUVEC	blood vessel:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
25	CTCF	chr12:67255040-67255190	HMF	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
26	CTCF	chr12:67254964-67255233	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
27	CTCF	chr12:67254990-67255261	Hela-S3	cervix:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
28	CTCF	chr12:67254840-67255299	HCT-116	colon:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
29	CTCF	chr12:67255060-67255210	WERI-Rb-1	eye:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
30	CTCF	chr12:67254845-67255295	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
31	CTCF	chr12:67255007-67255251	GM10248	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
32	CTCF	chr12:67255011-67255278	Kidney_OC	kidney:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
33	CTCF	chr12:67255080-67255230	HCM	heart:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
34	CTCF	chr12:67255040-67255190	NHLF	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
35	CTCF	chr12:67254979-67255287	K562	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
36	CTCF	chr12:67255080-67255230	RPTEC	kidney:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
37	CTCF	chr12:67255040-67255190	HRE	kidney:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
38	CTCF	chr12:67254921-67255286	A549	lung:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
39	CTCF	chr12:67254990-67255263	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
40	CTCF	chr12:67255040-67255190	HRPEpiC	eye:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
41	CTCF	chr12:67255040-67255190	GM12875	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
42	CTCF	chr12:67255008-67255230	MCF-7	breast:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
43	CTCF	chr12:67255040-67255190	HUVEC	blood vessel:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
44	CTCF	chr12:67255040-67255190	AG09319	gingival:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
45	CTCF	chr12:67254990-67255279	K562	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
46	CTCF	chr12:67210200-67210264	GM20000	blood:	n/a	n/a
47	CTCF	chr12:67255080-67255230	GM12865	blood:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
48	CTCF	chr12:67255080-67255230	SK-N-SH_RA	brain:	n/a	chr12:67255114-67255132 chr12:67255116-67255129 chr12:67255115-67255131 chr12:67255109-67255130
49	CTCF	chr12:67254720-67254870	WI-38	lung:	n/a	n/a
50	CTCF	chr12:67254890-67255251	HepG2	liver:	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	HNPCEpiC	eye:	n/a
2	chr12:67192853-67192903	NH-A	brain:	n/a
3	chr12:67197984-67198034	AG09319	gingival:	n/a
4	chr12:67192853-67192903	HAEpiC	amniotic membrane:	n/a
5	chr12:67197984-67198034	PrEC	prostate:	n/a
6	chr12:67197936-67197986	HEK293	kidney:	embryo
7	chr12:67192853-67192903	HEEpiC	esophagus:	n/a
8	chr12:67192853-67192903	Hela-S3	cervix:	n/a
9	chr12:67192853-67192903	BE2_C	brain:	n/a
10	chr12:67197851-67197901	NB4	blood:	n/a
11	chr12:67197936-67197986	SKMC	muscle:	n/a
12	chr12:67197851-67197901	Hepatocyte	liver:	n/a
13	chr12:67197851-67197901	MCF10A-Er-Src	breast:	n/a
14	chr12:67197936-67197986	IMR90	lung:	fetal
15	chr12:67197936-67197986	SAEC	small airway:	n/a
16	chr12:67197851-67197901	SK-N-MC	brain:	n/a
17	chr12:67192853-67192903	PrEC	prostate:	n/a
18	chr12:67197851-67197901	AoSMC	blood vessel:	n/a
19	chr12:67197936-67197986	HCF	heart:	n/a
20	chr12:67197984-67198034	MCF-7	breast:	n/a
21	chr12:67197984-67198034	HUVEC	blood vessel:	n/a
22	chr12:67197936-67197986	HCPEpiC	choroid plexus:	n/a
23	chr12:67192853-67192903	PFSK-1	brain:	n/a
24	chr12:67197851-67197901	HUVEC	blood vessel:	n/a
25	chr12:67197851-67197901	GM06990	blood:	n/a
26	chr12:67197851-67197901	HRCEpiC	kidney:	n/a
27	chr12:67197984-67198034	Caco-2	colon:	n/a
28	chr12:67192853-67192903	RPTEC	kidney:	n/a
29	chr12:67197851-67197901	HAEpiC	amniotic membrane:	n/a
30	chr12:67197851-67197901	T-47D	breast:	n/a
31	chr12:67192853-67192903	Caco-2	colon:	n/a
32	chr12:67197936-67197986	U87	brain:	n/a
33	chr12:67192853-67192903	H1-hESC	embryonic stem cell:	embryo
34	chr12:67197984-67198034	LNCaP	prostate:	n/a
35	chr12:67197984-67198034	MCF10A-Er-Src	breast:	n/a
36	chr12:67197984-67198034	Hepatocyte	liver:	n/a
37	chr12:67197936-67197986	PrEC	prostate:	n/a
38	chr12:67197984-67198034	PANC-1	pancreas:	n/a
39	chr12:67192853-67192903	IMR90	lung:	fetal
40	chr12:67197984-67198034	RPTEC	kidney:	n/a
41	chr12:67197851-67197901	GM12892	blood:	n/a
42	chr12:67197936-67197986	GM06990	blood:	n/a
43	chr12:67197936-67197986	ECC-1	luminal epithelium:	n/a
44	chr12:67197984-67198034	NHBE	bronchial:	n/a
45	chr12:67192853-67192903	AG04450	lung:	fetal
46	chr12:67197984-67198034	HMEC	breast:	n/a
47	chr12:67192853-67192903	SAEC	small airway:	n/a
48	chr12:67192853-67192903	NHDF-neo	bronchial:	n/a
49	chr12:67192853-67192903	CMK	blood:	n/a
50	chr12:67192853-67192903	PANC-1	pancreas:	n/a

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

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

Extended variants
information (count: 2879 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2879 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374768630	chr12:67174457-67174458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538930447	chr12:67174474-67174475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557047698	chr12:67174491-67174492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183486833	chr12:67174506-67174507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74938604	chr12:67174519-67174520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187821893	chr12:67174548-67174549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573099328	chr12:67174561-67174562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539550371	chr12:67174562-67174563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565484501	chr12:67174570-67174571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368634009	chr12:67174575-67174576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372041079	chr12:67174585-67174586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6581716	chr12:67174626-67174627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192397798	chr12:67174684-67174685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138592987	chr12:67174690-67174691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549088648	chr12:67174766-67174767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368690991	chr12:67174799-67174800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185248584	chr12:67174818-67174819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546434387	chr12:67174846-67174847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571443641	chr12:67174866-67174867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17102908	chr12:67174867-67174868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557258340	chr12:67174869-67174870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77357221	chr12:67174872-67174873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561341129	chr12:67174882-67174883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553265494	chr12:67174922-67174923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77681786	chr12:67174941-67174942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554547943	chr12:67174990-67174991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17827198	chr12:67174993-67174994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs76548070	chr12:67175045-67175046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149579363	chr12:67175061-67175062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143300911	chr12:67175092-67175093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148332251	chr12:67175097-67175098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574470298	chr12:67175123-67175124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563236262	chr12:67175131-67175132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530513659	chr12:67175240-67175241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542596191	chr12:67175336-67175337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142984374	chr12:67175345-67175346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528157255	chr12:67175365-67175366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575280146	chr12:67175377-67175378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147468024	chr12:67175434-67175435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140187949	chr12:67175439-67175440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564729049	chr12:67175499-67175500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532379480	chr12:67175532-67175533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374562043	chr12:67175564-67175565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs979082	chr12:67175595-67175596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568765941	chr12:67175607-67175608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536152350	chr12:67175614-67175615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554509075	chr12:67175649-67175650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566549033	chr12:67175664-67175665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144100502	chr12:67175678-67175679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533334807	chr12:67175732-67175733	Weak transcription	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:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67169000-67175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:67169800-67185200	Weak transcription	Pancreas	Pancrea
3	chr12:67173400-67174800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:67174400-67174600	Enhancers	Fetal Kidney	kidney
5	chr12:67175800-67176000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:67175800-67176400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:67176000-67176600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:67176200-67176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:67177800-67178200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:67178200-67192200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:67180400-67181800	Enhancers	Fetal Muscle Leg	muscle
12	chr12:67184600-67185000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:67187400-67187600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:67192200-67192600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:67192400-67195000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:67192600-67196400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:67193000-67194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:67193200-67193600	Enhancers	Fetal Brain Female	brain
19	chr12:67193200-67193600	Enhancers	Stomach Mucosa	stomach
20	chr12:67193200-67193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:67193200-67193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:67193200-67194000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:67193200-67194200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:67193200-67194400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:67193200-67194400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:67193200-67194600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:67193200-67194800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:67193200-67194800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:67193400-67193600	Enhancers	Fetal Heart	heart
30	chr12:67193400-67193800	Enhancers	Fetal Brain Male	brain
31	chr12:67193400-67194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:67193400-67194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:67193600-67194000	Weak transcription	Fetal Brain Female	brain
34	chr12:67193800-67195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:67194000-67194200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr12:67194000-67194200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:67194000-67194200	Enhancers	Fetal Brain Female	brain
38	chr12:67194000-67197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:67194200-67194400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:67194200-67195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:67194200-67195400	Weak transcription	Fetal Brain Female	brain
42	chr12:67194400-67197400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:67194400-67197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:67194400-67197600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:67194400-67197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:67194400-67198200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:67194800-67197200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:67195000-67197200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:67195200-67196200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:67195400-67195800	Active TSS	Fetal Brain Female	brain

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