Variant report

Variant	nsv818636
Chromosome Location	chr8:69636599-69642205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69632132..69633689-chr8:69635897..69637474,2	MCF-7	breast:
2	chr8:69641983..69644775-chr8:69764738..69766361,2	MCF-7	breast:
3	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16934962	chr8:69636599-69636600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147261025	chr8:69636604-69636605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139156278	chr8:69636639-69636640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566753831	chr8:69636658-69636659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535422432	chr8:69636752-69636753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59276657	chr8:69636777-69636778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575122620	chr8:69636779-69636780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184815139	chr8:69636823-69636824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557443336	chr8:69636828-69636829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10110350	chr8:69636852-69636853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141505799	chr8:69636890-69636891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559941825	chr8:69636962-69636963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574267864	chr8:69637001-69637002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542987837	chr8:69637044-69637045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150874131	chr8:69637058-69637059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201674323	chr8:69637107-69637108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531964763	chr8:69637109-69637110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139380258	chr8:69637138-69637139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188729399	chr8:69637163-69637164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565381484	chr8:69637172-69637173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527834102	chr8:69637184-69637185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12545419	chr8:69637186-69637187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7828487	chr8:69637207-69637208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150061004	chr8:69637237-69637238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535716355	chr8:69637247-69637248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549026986	chr8:69637271-69637272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568673464	chr8:69637295-69637296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537662342	chr8:69637309-69637310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546388077	chr8:69637344-69637345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372810201	chr8:69637353-69637354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571008727	chr8:69637368-69637369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181507797	chr8:69637386-69637387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186099947	chr8:69637400-69637401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573584383	chr8:69637408-69637409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189303517	chr8:69637482-69637483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529153058	chr8:69637496-69637497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74497361	chr8:69637533-69637534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576662137	chr8:69637624-69637625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182356965	chr8:69637673-69637674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187409581	chr8:69637676-69637677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527769336	chr8:69637719-69637720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372224006	chr8:69637725-69637726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550973174	chr8:69637780-69637781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577180479	chr8:69637789-69637790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541193792	chr8:69637891-69637892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561306170	chr8:69637968-69637969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575953921	chr8:69637973-69637974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115181921	chr8:69637974-69637975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549217059	chr8:69637981-69637982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568817227	chr8:69637984-69637985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69635800-69637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:69635800-69637400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:69636000-69637200	Enhancers	HUVEC	blood vessel
4	chr8:69636200-69638000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:69636600-69637000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:69636600-69637200	Enhancers	HSMM	muscle
7	chr8:69636600-69638000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:69636600-69638000	Enhancers	NHDF-Ad	bronchial
9	chr8:69637000-69638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:69637000-69641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:69637200-69638000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:69637200-69642000	Weak transcription	HUVEC	blood vessel
13	chr8:69637400-69641000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:69638000-69639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:69638000-69641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:69638000-69641400	Weak transcription	NHDF-Ad	bronchial
17	chr8:69638000-69646400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:69639600-69640200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:69640000-69640200	ZNF genes & repeats	Aorta	Aorta
20	chr8:69640200-69645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:69640200-69676800	Weak transcription	Aorta	Aorta
22	chr8:69640400-69640600	Enhancers	Fetal Brain Male	brain
23	chr8:69640600-69642000	Weak transcription	Fetal Brain Male	brain
24	chr8:69641000-69644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:69641000-69644600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:69641200-69641800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:69641200-69643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:69641200-69644200	Enhancers	NHLF	lung
29	chr8:69641400-69643600	Enhancers	NHDF-Ad	bronchial
30	chr8:69641400-69643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:69641600-69642400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:69641600-69643400	Enhancers	HMEC	breast
33	chr8:69641600-69643800	Enhancers	Osteobl	bone
34	chr8:69641600-69646400	Enhancers	Hela-S3	cervix
35	chr8:69641800-69642000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:69641800-69642400	Enhancers	Fetal Lung	lung
37	chr8:69641800-69643400	Enhancers	HSMM	muscle
38	chr8:69642000-69642200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:69642000-69642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:69642000-69642600	Enhancers	Fetal Brain Male	brain
41	chr8:69642000-69643200	Enhancers	NHEK	skin
42	chr8:69642000-69644000	Enhancers	HUVEC	blood vessel
43	chr8:69642200-69642400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:69642200-69642800	Enhancers	NH-A	brain
45	chr8:69642200-69643200	Enhancers	HSMMtube	muscle
46	chr8:69642200-69643800	Enhancers	A549	lung
47	chr8:69642200-69646600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links