Variant report

Variant	nsv519549
Chromosome Location	chr8:69682388-69687852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69489517..69490141-chr8:69685805..69686684,3	MCF-7	breast:
2	chr8:69648438..69649075-chr8:69686043..69686623,2	MCF-7	breast:
3	chr8:69489841..69490343-chr8:69685997..69686537,2	MCF-7	breast:
4	chr8:69684482..69688368-chr8:69762278..69766064,4	MCF-7	breast:
5	chr8:69684731..69687775-chr8:69763630..69766534,4	MCF-7	breast:
6	chr8:69488341..69491069-chr8:69684855..69686356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4278138	chr8:69682388-69682389	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143058403	chr8:69682403-69682404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146154880	chr8:69682426-69682427	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117298313	chr8:69682438-69682439	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138508863	chr8:69682449-69682450	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532800742	chr8:69682464-69682465	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552895180	chr8:69682468-69682469	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558658153	chr8:69682500-69682501	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4427154	chr8:69682524-69682525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369957423	chr8:69682547-69682548	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188288038	chr8:69682556-69682557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141160014	chr8:69682562-69682563	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193188782	chr8:69682572-69682573	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553541668	chr8:69682591-69682592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60347737	chr8:69682592-69682593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542440212	chr8:69682631-69682632	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185417928	chr8:69682700-69682701	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575995466	chr8:69682810-69682811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189407331	chr8:69682835-69682836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543473331	chr8:69682873-69682874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4351405	chr8:69682892-69682893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191090703	chr8:69682919-69682920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183644126	chr8:69682986-69682987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188302805	chr8:69682987-69682988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4299986	chr8:69683021-69683022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557871363	chr8:69683043-69683044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181256314	chr8:69683044-69683045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533742448	chr8:69683068-69683069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553735211	chr8:69683080-69683081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574212522	chr8:69683083-69683084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115974145	chr8:69683236-69683237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556632971	chr8:69683343-69683344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374136648	chr8:69683380-69683381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372313430	chr8:69683412-69683413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112822064	chr8:69683422-69683423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186696561	chr8:69683472-69683473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189936753	chr8:69683477-69683478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565002161	chr8:69683525-69683526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527799826	chr8:69683537-69683538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150736969	chr8:69683557-69683558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561342701	chr8:69683558-69683559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530079653	chr8:69683598-69683599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182048595	chr8:69683608-69683609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560123809	chr8:69683639-69683640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569091503	chr8:69683660-69683661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186354678	chr8:69683666-69683667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551624599	chr8:69683695-69683696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191052153	chr8:69683703-69683704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73683711	chr8:69683708-69683709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139079545	chr8:69683732-69683733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Chordoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69675200-69686200	Weak transcription	Fetal Lung	lung
2	chr8:69680400-69682600	Weak transcription	NHLF	lung
3	chr8:69680600-69682600	Weak transcription	HSMM	muscle
4	chr8:69680600-69682600	Weak transcription	Osteobl	bone
5	chr8:69681200-69682600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:69682000-69683000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:69682200-69682800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:69682600-69683800	Enhancers	NHLF	lung
9	chr8:69682600-69684000	Enhancers	HSMM	muscle
10	chr8:69682600-69684400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:69682600-69684400	Enhancers	Osteobl	bone
12	chr8:69682800-69684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:69682800-69684400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:69683000-69688000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:69686000-69686400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:69686000-69686400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:69686200-69687000	Enhancers	Fetal Lung	lung
18	chr8:69687000-69687600	Weak transcription	Fetal Lung	lung
19	chr8:69687600-69687800	Enhancers	Fetal Lung	lung
20	chr8:69687800-69689400	Weak transcription	Fetal Lung	lung

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