Variant report

Variant	nsv819958
Chromosome Location	chr8:36073740-36080027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78804821	chr8:36073829-36073830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549900029	chr8:36073831-36073832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35206826	chr8:36073840-36073841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571460416	chr8:36073861-36073862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144477233	chr8:36073862-36073863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75717038	chr8:36073891-36073892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539749361	chr8:36073902-36073903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77576906	chr8:36073903-36073904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555627678	chr8:36073917-36073918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548633567	chr8:36073943-36073944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs664687	chr8:36073951-36073952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538066844	chr8:36073964-36073965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556686831	chr8:36073976-36073977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578255948	chr8:36074027-36074028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545746454	chr8:36074080-36074081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560388897	chr8:36074092-36074093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114346185	chr8:36074151-36074152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115531216	chr8:36074174-36074175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542601441	chr8:36074180-36074181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560821279	chr8:36074202-36074203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143551627	chr8:36074218-36074219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552130492	chr8:36074253-36074254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373845920	chr8:36074281-36074282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112765737	chr8:36074364-36074365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373775957	chr8:36074401-36074402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140124615	chr8:36074436-36074437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185341055	chr8:36074500-36074501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145614458	chr8:36074507-36074508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565636885	chr8:36074527-36074528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527683140	chr8:36074537-36074538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549321233	chr8:36074549-36074550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567672696	chr8:36074558-36074559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550545802	chr8:36074563-36074564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35802763	chr8:36074590-36074591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537777803	chr8:36074610-36074611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538311596	chr8:36074628-36074629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556364237	chr8:36074660-36074661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555049492	chr8:36074693-36074694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75813762	chr8:36074704-36074705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367568673	chr8:36074753-36074754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539223446	chr8:36074761-36074762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567684789	chr8:36074808-36074809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117011209	chr8:36074809-36074810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572728391	chr8:36074962-36074963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55635131	chr8:36074963-36074964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189811156	chr8:36074968-36074969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535107266	chr8:36074987-36074988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576077982	chr8:36074999-36075000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543532518	chr8:36075002-36075003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180692265	chr8:36075005-36075006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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
Breast cancer	21785460	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36072600-36075800	Weak transcription	Adipose Nuclei	Adipose
2	chr8:36075800-36076600	Enhancers	Adipose Nuclei	Adipose
3	chr8:36076600-36078600	Weak transcription	Adipose Nuclei	Adipose
4	chr8:36077400-36077800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:36078400-36078800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:36078600-36079400	Enhancers	Adipose Nuclei	Adipose
7	chr8:36078600-36079600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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