Variant report

Variant	nsv519653
Chromosome Location	chr8:78545641-78552676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs906996	chr8:78545641-78545642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550746261	chr8:78545695-78545696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570180312	chr8:78545706-78545707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537515842	chr8:78545711-78545712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182457036	chr8:78545726-78545727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142414162	chr8:78545736-78545737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16939522	chr8:78545765-78545766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189167545	chr8:78545835-78545836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545207982	chr8:78545876-78545877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557097012	chr8:78545894-78545895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76190484	chr8:78545895-78545896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566387113	chr8:78545902-78545903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542382602	chr8:78545904-78545905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536796927	chr8:78545943-78545944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193084970	chr8:78545950-78545951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528114757	chr8:78545982-78545983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10111403	chr8:78546015-78546016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34314163	chr8:78546022-78546023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541424429	chr8:78546038-78546039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145951257	chr8:78546130-78546131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80071541	chr8:78546162-78546163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116418907	chr8:78546182-78546183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569102606	chr8:78546190-78546191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539421676	chr8:78546195-78546196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549251476	chr8:78546197-78546198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567748221	chr8:78546198-78546199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534714094	chr8:78546206-78546207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148606297	chr8:78546207-78546208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571626280	chr8:78546217-78546218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184503983	chr8:78546311-78546312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187394274	chr8:78546330-78546331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16939523	chr8:78546403-78546404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191922628	chr8:78546408-78546409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536841254	chr8:78546416-78546417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184057036	chr8:78546422-78546423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79772231	chr8:78546432-78546433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373433644	chr8:78546464-78546465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564833448	chr8:78546474-78546475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576887312	chr8:78546478-78546479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189466970	chr8:78546519-78546520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144335292	chr8:78546525-78546526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181018218	chr8:78546553-78546554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529896704	chr8:78546555-78546556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558660271	chr8:78546560-78546561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17382466	chr8:78546565-78546566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538544622	chr8:78546619-78546620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372341409	chr8:78546620-78546621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1567426	chr8:78546637-78546638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs1567427	chr8:78546654-78546655	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546608997	chr8:78546658-78546659	Enhancers Weak transcription	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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
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
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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78541600-78547000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:78545400-78547200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:78545600-78546600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:78546000-78548000	Enhancers	HMEC	breast
5	chr8:78546200-78547000	Enhancers	NHEK	skin
6	chr8:78546400-78546600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:78546400-78547200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:78547000-78547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:78547200-78547400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:78547200-78547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:78547800-78548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:78551600-78552600	Enhancers	Colon Smooth Muscle	Colon
13	chr8:78552600-78554000	Weak transcription	Colon Smooth Muscle	Colon

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