Variant report

Variant	nsv1067860
Chromosome Location	chr8:53536328-53598019
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	ATF1	chr8:53571713-53571874	K562	blood:	n/a	n/a
2	ATF2	chr8:53541963-53542396	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr8:53541876-53542312	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr8:53541931-53542300	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:53538194-53538450	GM12878	blood:	n/a	n/a
6	BCL11A	chr8:53541959-53542415	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr8:53538553-53538791	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:53541969-53542167	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr8:53584001-53584340	H1-hESC	embryonic stem cell:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
10	CEBPB	chr8:53593167-53593466	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:53583990-53584301	A549	lung:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
12	CEBPB	chr8:53583987-53584325	HepG2	liver:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
13	CEBPB	chr8:53583977-53584352	K562	blood:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
14	CEBPB	chr8:53547813-53547974	K562	blood:	n/a	n/a
15	CEBPB	chr8:53559106-53559171	K562	blood:	n/a	n/a
16	CEBPB	chr8:53542026-53542177	HepG2	liver:	n/a	n/a
17	CEBPB	chr8:53541904-53542378	MCF-7	breast:	n/a	n/a
18	CEBPB	chr8:53554677-53555064	IMR90	lung:	n/a	n/a
19	CEBPB	chr8:53541990-53542244	HepG2	liver:	n/a	n/a
20	CEBPB	chr8:53593139-53593503	IMR90	lung:	n/a	n/a
21	CEBPB	chr8:53560415-53560583	K562	blood:	n/a	chr8:53560511-53560524 chr8:53560511-53560522
22	CEBPB	chr8:53583958-53584399	A549	lung:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
23	CEBPB	chr8:53541795-53542303	H1-hESC	embryonic stem cell:	n/a	chr8:53541826-53541839
24	CEBPB	chr8:53583978-53584348	IMR90	lung:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
25	CEBPB	chr8:53583983-53584313	Hela-S3	cervix:	n/a	chr8:53584162-53584171 chr8:53584162-53584171 chr8:53584161-53584172 chr8:53584160-53584173 chr8:53584162-53584171
26	CEBPB	chr8:53541912-53542424	MCF-7	breast:	n/a	n/a
27	CEBPB	chr8:53593172-53593435	A549	lung:	n/a	n/a
28	CHD2	chr8:53566865-53567145	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr8:53542001-53542383	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr8:53538036-53538041	GM12878	blood:	n/a	n/a
31	CTCF	chr8:53537620-53537770	HCPEpiC	choroid plexus:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
32	CTCF	chr8:53537580-53537730	HMEC	breast:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
33	CTCF	chr8:53537600-53537750	Hela-S3	cervix:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
34	CTCF	chr8:53537593-53537791	Medullo	brain:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
35	CTCF	chr8:53537600-53537750	HCFaa	heart:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
36	CTCF	chr8:53537580-53537730	HPAF	blood vessel:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
37	CTCF	chr8:53537600-53537750	HPAF	blood vessel:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
38	CTCF	chr8:53537600-53537750	HRPEpiC	eye:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
39	CTCF	chr8:53537560-53537710	AoAF	blood vessel:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
40	CTCF	chr8:53537620-53537770	AG10803	skin:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
41	CTCF	chr8:53537620-53537770	AG04450	lung:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
42	CTCF	chr8:53537540-53537690	HFF-Myc	foreskin:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
43	CTCF	chr8:53537620-53537770	HA-sp	spinal cord:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
44	CTCF	chr8:53537580-53537730	HRPEpiC	eye:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
45	CTCF	chr8:53537900-53538050	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr8:53576240-53576390	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr8:53537620-53537770	HBMEC	blood vessel:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
48	CTCF	chr8:53537600-53537750	AG04450	lung:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
49	CTCF	chr8:53537580-53537730	NHDF-neo	bronchial:	n/a	chr8:53537672-53537688 chr8:53537666-53537687
50	CTCF	chr8:53537600-53537750	MCF-7	breast:	n/a	chr8:53537672-53537688 chr8:53537666-53537687

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:53566460-53566510	GM12878	blood:	n/a
2	chr8:53566460-53566510	H1-hESC	embryonic stem cell:	embryo
3	chr8:53578814-53578864	AG04450	lung:	fetal
4	chr8:53578814-53578864	NB4	blood:	n/a
5	chr8:53566460-53566510	K562	blood:	n/a
6	chr8:53578814-53578864	HCM	heart:	n/a
7	chr8:53578814-53578864	HPAEpiC	pulmonary alveolar:	n/a
8	chr8:53566460-53566510	A549	lung:	n/a
9	chr8:53578814-53578864	HIPEpiC	eye:	n/a
10	chr8:53578814-53578864	HEK293	kidney:	embryo
11	chr8:53578814-53578864	K562	blood:	n/a
12	chr8:53566460-53566510	GM12891	blood:	n/a
13	chr8:53578814-53578864	GM06990	blood:	n/a
14	chr8:53566460-53566510	HEEpiC	esophagus:	n/a
15	chr8:53578814-53578864	SAEC	small airway:	n/a
16	chr8:53578814-53578864	Hepatocyte	liver:	n/a
17	chr8:53578814-53578864	ProgFib	skin:	n/a
18	chr8:53566460-53566510	Caco-2	colon:	n/a
19	chr8:53578814-53578864	Caco-2	colon:	n/a
20	chr8:53578814-53578864	AG09319	gingival:	n/a
21	chr8:53578814-53578864	AG09309	skin:	n/a
22	chr8:53578814-53578864	Jurkat	blood:	n/a
23	chr8:53578814-53578864	HUVEC	blood vessel:	n/a
24	chr8:53578814-53578864	GM12891	blood:	n/a
25	chr8:53566460-53566510	SKMC	muscle:	n/a
26	chr8:53578814-53578864	SK-N-SH	brain:	n/a
27	chr8:53566460-53566510	GM06990	blood:	n/a
28	chr8:53578814-53578864	PrEC	prostate:	n/a
29	chr8:53578814-53578864	MCF-7	breast:	n/a
30	chr8:53566460-53566510	AG09319	gingival:	n/a
31	chr8:53578814-53578864	HNPCEpiC	eye:	n/a
32	chr8:53566460-53566510	MCF-7	breast:	n/a
33	chr8:53578814-53578864	NHBE	bronchial:	n/a
34	chr8:53566460-53566510	SK-N-SH_RA	brain:	n/a
35	chr8:53566460-53566510	Hela-S3	cervix:	n/a
36	chr8:53578814-53578864	ovcar-3	ovarian:	n/a
37	chr8:53578814-53578864	RPTEC	kidney:	n/a
38	chr8:53566460-53566510	HRCEpiC	kidney:	n/a
39	chr8:53578814-53578864	GM12892	blood:	n/a
40	chr8:53578814-53578864	HCT-116	colon:	n/a
41	chr8:53578814-53578864	BJ	skin:	n/a
42	chr8:53578814-53578864	PANC-1	pancreas:	n/a
43	chr8:53566460-53566510	HCPEpiC	choroid plexus:	n/a
44	chr8:53566460-53566510	IMR90	lung:	fetal
45	chr8:53566460-53566510	HCM	heart:	n/a
46	chr8:53566460-53566510	AoSMC	blood vessel:	n/a
47	chr8:53578814-53578864	PFSK-1	brain:	n/a
48	chr8:53566460-53566510	ProgFib	skin:	n/a
49	chr8:53566460-53566510	BJ	skin:	n/a
50	chr8:53566460-53566510	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:53572459..53576424-chr8:53576772..53581609,5	K562	blood:
2	chr8:53590344..53593070-chr8:53594562..53597118,2	K562	blood:
3	chr8:53568645..53570159-chr8:53571129..53573328,2	K562	blood:
4	chr8:53563732..53566107-chr8:53606822..53608530,2	K562	blood:
5	chr8:53589172..53591828-chr8:53624947..53627023,2	MCF-7	breast:
6	chr8:53557771..53561401-chr8:53624923..53627709,3	K562	blood:
7	chr8:53544573..53546394-chr8:53550090..53551810,2	K562	blood:
8	chr8:53561775..53564480-chr8:53624857..53626585,2	K562	blood:
9	chr8:53527707..53530232-chr8:53540269..53542754,2	K562	blood:
10	chr8:53558478..53560001-chr8:53562936..53564747,2	K562	blood:
11	chr8:53544573..53546394-chr8:53550090..53551810,2	K562	blood:
12	chr8:53558929..53560566-chr8:53563756..53566639,2	K562	blood:
13	chr8:53527520..53529626-chr8:53537141..53539075,2	MCF-7	breast:
14	chr8:53558478..53560001-chr8:53562936..53564747,2	K562	blood:
15	chr8:53567898..53571839-chr8:53626186..53628473,3	K562	blood:
16	chr8:53569082..53571374-chr8:53573595..53575990,2	K562	blood:
17	chr8:53530367..53533275-chr8:53533577..53536463,2	K562	blood:
18	chr8:53568645..53570159-chr8:53571129..53573328,2	K562	blood:
19	chr8:53590344..53593070-chr8:53594562..53597118,2	K562	blood:
20	chr8:53558929..53560566-chr8:53563756..53566639,2	K562	blood:
21	chr8:53591135..53593942-chr8:53626984..53628511,2	K562	blood:

Variant related genes	Relation type
RB1CC1	TF binding region
RB1CC1	CpG island
ENSG00000023287	chromatin interactions

Extended variants
information (count: 2361 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2361 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145350535	chr8:53536345-53536346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35362428	chr8:53536347-53536348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137915751	chr8:53536363-53536364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140892854	chr8:53536365-53536366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141638598	chr8:53536415-53536416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374740650	chr8:53536425-53536426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370909498	chr8:53536440-53536441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375824573	chr8:53536448-53536449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201357203	chr8:53536465-53536466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367818845	chr8:53536476-53536477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77912904	chr8:53536478-53536479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573820072	chr8:53536487-53536488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113332634	chr8:53536494-53536495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200383713	chr8:53536498-53536499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201614145	chr8:53536504-53536505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199604185	chr8:53536505-53536506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200637742	chr8:53536509-53536510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201540752	chr8:53536510-53536511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541093646	chr8:53536512-53536513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369016771	chr8:53536554-53536555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533111461	chr8:53536576-53536577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545385207	chr8:53536599-53536600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563478477	chr8:53536625-53536626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377199275	chr8:53536644-53536645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188034171	chr8:53536657-53536658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548924802	chr8:53536686-53536687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192142162	chr8:53536772-53536773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528201894	chr8:53536789-53536790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34367506	chr8:53536984-53536985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546670786	chr8:53537017-53537018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4386995	chr8:53537018-53537019	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4242480	chr8:53537023-53537024	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145555340	chr8:53537028-53537029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376399652	chr8:53537040-53537041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570281613	chr8:53537047-53537048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34162408	chr8:53537048-53537049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112489319	chr8:53537050-53537051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7018139	chr8:53537116-53537117	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555557775	chr8:53537139-53537140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573856961	chr8:53537220-53537221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541132648	chr8:53537231-53537232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376261405	chr8:53537250-53537251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1129660	chr8:53537316-53537317	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371451246	chr8:53537322-53537323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34169001	chr8:53537352-53537353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545108949	chr8:53537432-53537433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544028093	chr8:53537457-53537458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112823807	chr8:53537481-53537482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530728498	chr8:53537501-53537502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542900615	chr8:53537534-53537535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1797 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53525400-53543800	Weak transcription	Lung	lung
2	chr8:53528400-53603600	Weak transcription	Small Intestine	intestine
3	chr8:53529000-53542000	Weak transcription	Aorta	Aorta
4	chr8:53529200-53538400	Weak transcription	A549	lung
5	chr8:53529600-53540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:53529800-53536800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:53529800-53538600	Weak transcription	Left Ventricle	heart
8	chr8:53529800-53546400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:53529800-53546400	Weak transcription	Psoas Muscle	Psoas
10	chr8:53529800-53554800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:53530000-53541000	Weak transcription	NHEK	skin
12	chr8:53530000-53541200	Weak transcription	HMEC	breast
13	chr8:53530000-53565200	Weak transcription	Right Ventricle	heart
14	chr8:53530200-53541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:53530200-53541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:53530200-53543400	Weak transcription	HSMMtube	muscle
17	chr8:53530200-53544400	Weak transcription	NH-A	brain
18	chr8:53530400-53537000	Weak transcription	Fetal Heart	heart
19	chr8:53530400-53539200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:53530400-53565800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:53530600-53569400	Weak transcription	NHLF	lung
22	chr8:53530800-53536600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:53531000-53541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:53531000-53569400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:53531600-53540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:53532000-53536400	Weak transcription	Fetal Kidney	kidney
27	chr8:53532000-53550600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:53532000-53569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:53532200-53558000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:53532200-53562600	Weak transcription	Brain Angular Gyrus	brain
31	chr8:53532400-53538600	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:53533000-53536800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:53533000-53541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:53533000-53544200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:53533200-53536400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:53533400-53538600	Strong transcription	HSMM	muscle
37	chr8:53533400-53544600	Weak transcription	NHDF-Ad	bronchial
38	chr8:53533600-53543400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:53533800-53547800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:53534000-53544200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:53534200-53538800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:53534200-53543000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:53534200-53543800	Weak transcription	Brain Germinal Matrix	brain
44	chr8:53534200-53550600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:53534400-53538800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:53534400-53541000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:53534400-53541400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:53534400-53543400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:53534400-53543600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:53534600-53536600	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links