Variant report

Variant	nsv967614
Chromosome Location	chr8:90254895-90256004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77887008	chr8:90254958-90254959	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146568314	chr8:90254986-90254987	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560908725	chr8:90255017-90255018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531637312	chr8:90255023-90255024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550436049	chr8:90255065-90255066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562672797	chr8:90255107-90255108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73292254	chr8:90255115-90255116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113793146	chr8:90255117-90255118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375323442	chr8:90255118-90255119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200363025	chr8:90255132-90255133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551255761	chr8:90255136-90255137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566662103	chr8:90255156-90255157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558299163	chr8:90255160-90255161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377579437	chr8:90255163-90255164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370190295	chr8:90255224-90255225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567269510	chr8:90255251-90255252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555933828	chr8:90255279-90255280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537869992	chr8:90255304-90255305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187823389	chr8:90255313-90255314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574114312	chr8:90255325-90255326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578163323	chr8:90255335-90255336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192164583	chr8:90255364-90255365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539343187	chr8:90255370-90255371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572317291	chr8:90255371-90255372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542705023	chr8:90255412-90255413	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183629061	chr8:90255450-90255451	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576010622	chr8:90255452-90255453	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188430603	chr8:90255457-90255458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565301232	chr8:90255514-90255515	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533032008	chr8:90255518-90255519	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10955972	chr8:90255638-90255639	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10808511	chr8:90255693-90255694	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527528787	chr8:90255700-90255701	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549078636	chr8:90255708-90255709	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs578169975	chr8:90255732-90255733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567404268	chr8:90255759-90255760	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544994334	chr8:90255853-90255854	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112051245	chr8:90255884-90255885	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34069790	chr8:90255887-90255888	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537955586	chr8:90255891-90255892	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12114192	chr8:90255910-90255911	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565151898	chr8:90255914-90255915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12114193	chr8:90255921-90255922	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10955973	chr8:90255944-90255945	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115581800	chr8:90255947-90255948	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90248600-90259600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr8:90250000-90259600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr8:90251400-90259400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:90251800-90257400	Enhancers	Dnd41	blood
5	chr8:90253400-90257200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:90253800-90257000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:90254000-90255400	Enhancers	Primary T cells from cord blood	blood
8	chr8:90254000-90255600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:90254200-90255600	Weak transcription	NHDF-Ad	bronchial
10	chr8:90254600-90258200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:90254800-90255000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:90254800-90255600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:90254800-90256400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:90255000-90255400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:90255200-90255800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:90255400-90256000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr8:90255400-90256800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr8:90255600-90255800	Enhancers	NHDF-Ad	bronchial
19	chr8:90255600-90256200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:90255600-90256400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:90255600-90256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:90255600-90256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:90255600-90256400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:90255600-90256400	Enhancers	NH-A	brain
25	chr8:90255600-90256600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:90255600-90256600	Enhancers	Osteobl	bone
27	chr8:90255600-90256800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:90255800-90256400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:90255800-90256600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:90255800-90265800	Weak transcription	NHDF-Ad	bronchial
31	chr8:90256000-90256200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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