Variant report

Variant	nsv526922
Chromosome Location	chr8:52772515-52786791
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	ATF2	chr8:52783314-52783906	GM12878	blood:	n/a	n/a
2	BACH1	chr8:52782546-52782873	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:52782470-52783076	K562	blood:	n/a	chr8:52782654-52782667 chr8:52782962-52782975
4	CEBPB	chr8:52782536-52782811	A549	lung:	n/a	chr8:52782654-52782667
5	CEBPB	chr8:52782480-52783111	IMR90	lung:	n/a	chr8:52782654-52782667 chr8:52782962-52782975
6	CHD2	chr8:52783764-52783812	GM12878	blood:	n/a	n/a
7	CTCF	chr8:52783320-52783470	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr8:52783320-52783470	AG04449	skin:	n/a	n/a
9	CTCF	chr8:52783160-52783310	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr8:52783360-52783510	RPTEC	kidney:	n/a	n/a
11	CTCF	chr8:52783320-52783470	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr8:52772740-52772890	GM12867	blood:	n/a	n/a
13	CTCF	chr8:52783280-52783430	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr8:52783220-52783370	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr8:52783050-52783068	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr8:52783280-52783430	GM06990	blood:	n/a	n/a
17	CTCF	chr8:52783380-52783530	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr8:52783260-52783410	BE2_C	brain:	n/a	n/a
19	CTCF	chr8:52783340-52783490	BJ	skin:	n/a	n/a
20	CTCF	chr8:52783260-52783410	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr8:52783440-52783590	HFF	foreskin:	n/a	n/a
22	CTCF	chr8:52783360-52783510	HMF	breast:	n/a	n/a
23	CTCF	chr8:52783320-52783470	AG09319	gingival:	n/a	n/a
24	CTCF	chr8:52783360-52783510	BJ	skin:	n/a	n/a
25	CUX1	chr8:52783620-52783859	GM12878	blood:	n/a	n/a
26	CUX1	chr8:52781469-52782088	K562	blood:	n/a	chr8:52781649-52781658 chr8:52781658-52781667
27	EP300	chr8:52783693-52783704	GM12878	blood:	n/a	n/a
28	EP300	chr8:52783708-52783906	GM12878	blood:	n/a	chr8:52783763-52783777 chr8:52783748-52783762
29	FAM48A	chr8:52785864-52786023	GM12878	blood:	n/a	n/a
30	FOS	chr8:52782542-52782919	MCF10A-Er-Src	breast:	n/a	chr8:52782689-52782697 chr8:52782687-52782698 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
31	FOS	chr8:52782480-52783617	MCF10A-Er-Src	breast:	n/a	chr8:52782689-52782697 chr8:52782687-52782698 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
32	FOS	chr8:52782511-52782856	MCF10A-Er-Src	breast:	n/a	chr8:52782689-52782697 chr8:52782687-52782698 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
33	FOS	chr8:52783374-52783591	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr8:52782468-52783010	HUVEC	blood vessel:	n/a	chr8:52782689-52782697 chr8:52782687-52782698 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
35	FOS	chr8:52782509-52782953	MCF10A-Er-Src	breast:	n/a	chr8:52782689-52782697 chr8:52782687-52782698 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
36	FOXA1	chr8:52782090-52782581	T-47D	breast:	n/a	chr8:52782349-52782364
37	FOXA1	chr8:52782224-52782499	T-47D	breast:	n/a	chr8:52782349-52782364
38	GATA2	chr8:52773418-52773723	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr8:52778366-52778475	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr8:52771315-52772522	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr8:52772756-52773360	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr8:52772756-52773367	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr8:52777811-52777999	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr8:52773091-52773274	SH-SY5Y	brain:	n/a	n/a
45	IRF1	chr8:52784178-52784377	K562	blood:	n/a	n/a
46	JUN	chr8:52783309-52783441	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr8:52782559-52782898	K562	blood:	n/a	chr8:52782689-52782697 chr8:52782802-52782810 chr8:52782688-52782698 chr8:52782688-52782698 chr8:52782687-52782699
48	KAP1	chr8:52778637-52779875	K562	blood:	n/a	n/a
49	KAP1	chr8:52778670-52780015	HEK293	kidney:	n/a	n/a
50	MAFF	chr8:52782541-52782842	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:52773607-52773657	SAEC	small airway:	n/a
2	chr8:52773607-52773657	SAEC	small airway:	n/a
3	chr8:52772528-52772578	A549	lung:	n/a
4	chr8:52783890-52783940	NHBE	bronchial:	n/a
5	chr8:52772528-52772578	Caco-2	colon:	n/a
6	chr8:52773607-52773657	SK-N-MC	brain:	n/a
7	chr8:52772528-52772578	HCM	heart:	n/a
8	chr8:52783890-52783940	K562	blood:	n/a
9	chr8:52783890-52783940	HCM	heart:	n/a
10	chr8:52773607-52773657	SKMC	muscle:	n/a
11	chr8:52773607-52773657	AoSMC	blood vessel:	n/a
12	chr8:52773607-52773657	BJ	skin:	n/a
13	chr8:52773607-52773657	LNCaP	prostate:	n/a
14	chr8:52783890-52783940	GM12892	blood:	n/a
15	chr8:52773607-52773657	NH-A	brain:	n/a
16	chr8:52783890-52783940	SKMC	muscle:	n/a
17	chr8:52783890-52783940	BE2_C	brain:	n/a
18	chr8:52772528-52772578	AG04450	lung:	fetal
19	chr8:52783890-52783940	IMR90	lung:	fetal
20	chr8:52773607-52773657	ovcar-3	ovarian:	n/a
21	chr8:52773607-52773657	IMR90	lung:	fetal
22	chr8:52772528-52772578	AG09309	skin:	n/a
23	chr8:52772528-52772578	PANC-1	pancreas:	n/a
24	chr8:52772528-52772578	HMEC	breast:	n/a
25	chr8:52772528-52772578	GM06990	blood:	n/a
26	chr8:52783890-52783940	AG09309	skin:	n/a
27	chr8:52772528-52772578	HAEpiC	amniotic membrane:	n/a
28	chr8:52773607-52773657	Caco-2	colon:	n/a
29	chr8:52783890-52783940	NH-A	brain:	n/a
30	chr8:52773607-52773657	BE2_C	brain:	n/a
31	chr8:52783890-52783940	HRE	kidney:	n/a
32	chr8:52773607-52773657	AG09309	skin:	n/a
33	chr8:52772528-52772578	ProgFib	skin:	n/a
34	chr8:52783890-52783940	LNCaP	prostate:	n/a
35	chr8:52783890-52783940	GM12891	blood:	n/a
36	chr8:52773607-52773657	T-47D	breast:	n/a
37	chr8:52783890-52783940	SK-N-SH_RA	brain:	n/a
38	chr8:52772528-52772578	Jurkat	blood:	n/a
39	chr8:52772528-52772578	Hela-S3	cervix:	n/a
40	chr8:52783890-52783940	HNPCEpiC	eye:	n/a
41	chr8:52773607-52773657	HCM	heart:	n/a
42	chr8:52772528-52772578	IMR90	lung:	fetal
43	chr8:52783890-52783940	SAEC	small airway:	n/a
44	chr8:52772528-52772578	GM12891	blood:	n/a
45	chr8:52773607-52773657	HMEC	breast:	n/a
46	chr8:52783890-52783940	AoSMC	blood vessel:	n/a
47	chr8:52773607-52773657	HRPEpiC	eye:	n/a
48	chr8:52773607-52773657	U87	brain:	n/a
49	chr8:52783890-52783940	A549	lung:	n/a
50	chr8:52783890-52783940	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:52778955..52782186-chr8:52783588..52785902,4	K562	blood:
2	chr8:52782793..52784777-chr8:52800209..52802405,2	K562	blood:
3	chr19:27731523..27732363-chr8:52777077..52777577,2	MCF-7	breast:
4	chr8:52778955..52782186-chr8:52783588..52785902,4	K562	blood:
5	chr8:52781440..52784633-chr8:52809413..52813139,4	MCF-7	breast:
6	chr8:52783171..52785134-chr8:52792313..52793867,2	K562	blood:
7	chr8:52785415..52788968-chr8:52790350..52793500,3	K562	blood:
8	chr8:52775017..52777549-chr8:52806193..52807978,2	MCF-7	breast:
9	chr8:52781708..52785337-chr8:52790872..52796475,5	K562	blood:
10	chr8:52780733..52786342-chr8:52810229..52813272,6	MCF-7	breast:
11	chr8:52785279..52786991-chr8:52811511..52813258,2	K562	blood:
12	chr8:52786580..52789029-chr8:52809559..52813182,3	MCF-7	breast:
13	chr8:52760042..52761761-chr8:52782452..52785170,2	K562	blood:

Variant related genes	Relation type
PCMTD1	TF binding region
PCMTD1	CpG island
ENSG00000168300	chromatin interactions
ENSG00000228801	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9298464	chr8:52772515-52772516	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537153313	chr8:52772534-52772535	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549429655	chr8:52772575-52772576	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193098694	chr8:52772580-52772581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534851640	chr8:52772594-52772595	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552870253	chr8:52772601-52772602	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578031573	chr8:52772640-52772641	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185079186	chr8:52772794-52772795	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557003659	chr8:52772796-52772797	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542315526	chr8:52772802-52772803	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555391302	chr8:52772818-52772819	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562183002	chr8:52772876-52772877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574519340	chr8:52772886-52772887	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4873614	chr8:52772928-52772929	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151202115	chr8:52772955-52772956	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541660424	chr8:52772997-52772998	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559512876	chr8:52773004-52773005	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140481731	chr8:52773014-52773015	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570806650	chr8:52773086-52773087	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551613169	chr8:52773126-52773127	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563364800	chr8:52773127-52773128	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530780546	chr8:52773153-52773154	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549093844	chr8:52773205-52773206	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79482176	chr8:52773216-52773217	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9298465	chr8:52773230-52773231	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs80012207	chr8:52773267-52773268	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546813647	chr8:52773278-52773279	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9298466	chr8:52773295-52773296	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs538935465	chr8:52773313-52773314	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34862331	chr8:52773334-52773335	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150431844	chr8:52773349-52773350	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568882671	chr8:52773376-52773377	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536275566	chr8:52773397-52773398	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189460500	chr8:52773697-52773698	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376782286	chr8:52773723-52773724	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369149746	chr8:52773733-52773734	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572935453	chr8:52773742-52773743	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539911607	chr8:52773803-52773804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145147339	chr8:52773896-52773897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200850181	chr8:52773942-52773943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577788810	chr8:52773955-52773956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545311518	chr8:52773963-52773964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552411730	chr8:52774038-52774039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370286208	chr8:52774061-52774062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149137914	chr8:52774091-52774092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13274453	chr8:52774110-52774111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13274478	chr8:52774129-52774130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13274479	chr8:52774131-52774132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531089669	chr8:52774179-52774180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140650185	chr8:52774274-52774275	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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
3	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
4	chr8:52739800-52782600	Weak transcription	K562	blood
5	chr8:52759000-52786200	Weak transcription	Lung	lung
6	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
7	chr8:52763800-52772600	Weak transcription	Fetal Kidney	kidney
8	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:52764000-52774600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:52764000-52779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:52764000-52781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:52764000-52783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:52764200-52779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:52764200-52782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:52764400-52773400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:52764600-52776800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:52765400-52773600	Strong transcription	Fetal Thymus	thymus
19	chr8:52766000-52772600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:52766400-52775200	Weak transcription	Left Ventricle	heart
21	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
22	chr8:52768000-52773800	Strong transcription	Dnd41	blood
23	chr8:52768200-52773600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:52768200-52773800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:52768400-52773000	Enhancers	HMEC	breast
26	chr8:52768400-52774000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:52768600-52772600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:52768600-52772800	Enhancers	Colon Smooth Muscle	Colon
29	chr8:52768600-52780200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:52768800-52773600	Strong transcription	Primary T cells from cord blood	blood
31	chr8:52768800-52773600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:52768800-52773800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:52769000-52773000	Strong transcription	Primary B cells from cord blood	blood
34	chr8:52769000-52773600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:52769000-52774200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:52769000-52774200	Strong transcription	Fetal Intestine Large	intestine
37	chr8:52769200-52773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:52769400-52773000	Strong transcription	Thymus	Thymus
39	chr8:52769400-52777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:52769800-52781200	Weak transcription	Hela-S3	cervix
41	chr8:52769800-52782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:52769800-52785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:52770200-52772600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:52770200-52775000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:52770400-52773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:52770800-52772600	Enhancers	Osteobl	bone
48	chr8:52770800-52772800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:52770800-52773200	Enhancers	NHEK	skin
50	chr8:52770800-52773600	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links