Variant report

Variant	nsv818632
Chromosome Location	chr8:63208699-63222881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 315 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6989805	chr8:63208699-63208700	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536897044	chr8:63208712-63208713	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57029192	chr8:63208772-63208773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188761480	chr8:63208789-63208790	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192695310	chr8:63208828-63208829	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185653074	chr8:63208840-63208841	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144395712	chr8:63208896-63208897	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539800655	chr8:63208908-63208909	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577263535	chr8:63208952-63208953	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560194202	chr8:63208959-63208960	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545333366	chr8:63208994-63208995	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144814644	chr8:63209021-63209022	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372930554	chr8:63209031-63209032	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146688649	chr8:63209049-63209050	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189312418	chr8:63209057-63209058	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180809380	chr8:63209059-63209060	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185816920	chr8:63209101-63209102	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56760890	chr8:63209102-63209103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549416018	chr8:63209103-63209104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564546912	chr8:63209105-63209106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576839501	chr8:63209109-63209110	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189878711	chr8:63209124-63209125	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60894866	chr8:63209190-63209191	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547073833	chr8:63209195-63209196	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140221451	chr8:63209253-63209254	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150288868	chr8:63209292-63209293	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548779342	chr8:63209295-63209296	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs137916623	chr8:63209319-63209320	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537545895	chr8:63209324-63209325	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559054013	chr8:63209348-63209349	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs59017357	chr8:63209351-63209352	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375505027	chr8:63209405-63209406	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575375772	chr8:63209424-63209425	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73683086	chr8:63209474-63209475	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs118184570	chr8:63209492-63209493	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181084180	chr8:63209495-63209496	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542525753	chr8:63209502-63209503	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114197961	chr8:63209544-63209545	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146901086	chr8:63209627-63209628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139382845	chr8:63209672-63209673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186269821	chr8:63209690-63209691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561415703	chr8:63209733-63209734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199516979	chr8:63209751-63209752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200832320	chr8:63209761-63209762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547402312	chr8:63209762-63209763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190591382	chr8:63209768-63209769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143185741	chr8:63209819-63209820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548553678	chr8:63209854-63209855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570274217	chr8:63209879-63209880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531172088	chr8:63209884-63209885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63191000-63209200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63206600-63209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:63206600-63209200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:63206600-63209600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:63206800-63209200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:63206800-63209600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:63207200-63209600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:63207400-63209600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:63207600-63209000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:63207800-63209400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:63208200-63209400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:63208400-63209200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:63208600-63209000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:63208800-63209000	Enhancers	Fetal Brain Female	brain
15	chr8:63209000-63209200	Weak transcription	Fetal Brain Female	brain
16	chr8:63209200-63209400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:63209200-63209600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:63209200-63209600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr8:63209200-63209600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr8:63209400-63209600	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr8:63209400-63212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:63209600-63212400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:63209600-63214000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:63209600-63214400	Weak transcription	Fetal Brain Female	brain
25	chr8:63209600-63214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:63212400-63216200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:63212600-63213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:63214000-63214600	Enhancers	Fetal Brain Male	brain
29	chr8:63214000-63215000	Enhancers	Brain Germinal Matrix	brain
30	chr8:63214400-63216200	Enhancers	Fetal Brain Female	brain
31	chr8:63214600-63215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:63215000-63216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:63215200-63215800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:63215200-63216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:63215200-63216000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:63215400-63215800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:63215400-63216000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:63215600-63216000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:63216000-63217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:63217400-63217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:63219200-63219600	Enhancers	HSMM	muscle

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