Variant report

Variant	nsv6151
Chromosome Location	chr8:35513278-35525860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs570464546	chr8:35513313-35513314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575447786	chr8:35513424-35513425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553055241	chr8:35513484-35513485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112995616	chr8:35513610-35513611	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574500560	chr8:35513644-35513645	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542056621	chr8:35513737-35513738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148374582	chr8:35513746-35513747	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186379343	chr8:35513854-35513855	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546145606	chr8:35513855-35513856	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565119073	chr8:35513906-35513907	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192457696	chr8:35513961-35513962	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541134388	chr8:35513981-35513982	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28676752	chr8:35513982-35513983	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530192359	chr8:35513987-35513988	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548830762	chr8:35513999-35514000	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113933529	chr8:35514001-35514002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529058283	chr8:35514051-35514052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569944969	chr8:35514053-35514054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74715142	chr8:35514077-35514078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142283808	chr8:35514104-35514105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552470438	chr8:35514156-35514157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183413768	chr8:35514173-35514174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547560806	chr8:35514184-35514185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199553969	chr8:35514185-35514186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534614454	chr8:35514187-35514188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146295525	chr8:35514263-35514264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139541761	chr8:35514277-35514278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535589962	chr8:35514308-35514309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10092757	chr8:35514357-35514358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10102232	chr8:35519401-35519402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187694415	chr8:35519437-35519438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201883648	chr8:35519475-35519476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555594854	chr8:35519484-35519485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371902383	chr8:35519544-35519545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112458083	chr8:35519551-35519552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558455691	chr8:35519582-35519583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34835642	chr8:35519583-35519584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192378327	chr8:35519619-35519620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183938283	chr8:35519628-35519629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144194424	chr8:35519667-35519668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188885814	chr8:35519673-35519674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199546633	chr8:35519704-35519705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10692805	chr8:35519705-35519706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57184461	chr8:35519722-35519723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543039881	chr8:35519726-35519727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11992399	chr8:35519754-35519755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531827844	chr8:35519820-35519821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145478687	chr8:35519863-35519864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575778989	chr8:35519985-35519986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80072660	chr8:35520070-35520071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35512800-35513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:35513200-35513800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:35513200-35513800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:35513400-35514000	Enhancers	Fetal Heart	heart
5	chr8:35513600-35514000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:35513600-35514400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:35514000-35514400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:35519400-35520000	Enhancers	Fetal Lung	lung
9	chr8:35519600-35520200	Enhancers	Brain Germinal Matrix	brain
10	chr8:35520000-35524000	Weak transcription	Fetal Lung	lung
11	chr8:35520200-35522800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:35524000-35524600	Enhancers	Fetal Lung	lung

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