Variant report

Variant	nsv968483
Chromosome Location	chr8:35334410-35336713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140008240	chr8:35334414-35334415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372226500	chr8:35334451-35334452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551251444	chr8:35334574-35334575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189502772	chr8:35334617-35334618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76500272	chr8:35334623-35334624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375643650	chr8:35334688-35334689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28641967	chr8:35334728-35334729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566911469	chr8:35334738-35334739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527589936	chr8:35334749-35334750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537400050	chr8:35334768-35334769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556840353	chr8:35334804-35334805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578163697	chr8:35334807-35334808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539256934	chr8:35334821-35334822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554387264	chr8:35334825-35334826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374298568	chr8:35334839-35334840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572619589	chr8:35334934-35334935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543135224	chr8:35335053-35335054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537565534	chr8:35335098-35335099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78636902	chr8:35335108-35335109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368127093	chr8:35335118-35335119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549716064	chr8:35335147-35335148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2579881	chr8:35335163-35335164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562815962	chr8:35335168-35335169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533060402	chr8:35335186-35335187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115701614	chr8:35335194-35335195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559910655	chr8:35335204-35335205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527421609	chr8:35335209-35335210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548673686	chr8:35335213-35335214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566996033	chr8:35335229-35335230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564256316	chr8:35335230-35335231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576085340	chr8:35335276-35335277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181492657	chr8:35335281-35335282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549498020	chr8:35335295-35335296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75847020	chr8:35335299-35335300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543253596	chr8:35335300-35335301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114917712	chr8:35335317-35335318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572688017	chr8:35335359-35335360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151263592	chr8:35335396-35335397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555122387	chr8:35335411-35335412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576423385	chr8:35335427-35335428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563699225	chr8:35335449-35335450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561963048	chr8:35335469-35335470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565110705	chr8:35335523-35335524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140499176	chr8:35335567-35335568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202099281	chr8:35335659-35335660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529067404	chr8:35335682-35335683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559972240	chr8:35335696-35335697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527507000	chr8:35335704-35335705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186169709	chr8:35335715-35335716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561074057	chr8:35335756-35335757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35332800-35343600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:35333000-35343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:35334000-35334800	Enhancers	Brain Germinal Matrix	brain
4	chr8:35334200-35334600	Enhancers	Fetal Brain Male	brain

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