Variant report

Variant	nsv526931
Chromosome Location	chr8:8765165-8766881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10097779	chr8:8765165-8765166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191892599	chr8:8765174-8765175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574991703	chr8:8765270-8765271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28514965	chr8:8765285-8765286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540791523	chr8:8765315-8765316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560710853	chr8:8765349-8765350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183665954	chr8:8765387-8765388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28655065	chr8:8765438-8765439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562328563	chr8:8765523-8765524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531303148	chr8:8765532-8765533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57226640	chr8:8765536-8765537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544853351	chr8:8765543-8765544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140719191	chr8:8765546-8765547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533650604	chr8:8765562-8765563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188369695	chr8:8765602-8765603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570357343	chr8:8765606-8765607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539330070	chr8:8765607-8765608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181770162	chr8:8765634-8765635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28698801	chr8:8765635-8765636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185720954	chr8:8765648-8765649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190542006	chr8:8765654-8765655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112723800	chr8:8765685-8765686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186873358	chr8:8765686-8765687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34085398	chr8:8765689-8765690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540779498	chr8:8765705-8765706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541338995	chr8:8765780-8765781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536666315	chr8:8765784-8765785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560648127	chr8:8765793-8765794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560075055	chr8:8765796-8765797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577401815	chr8:8765798-8765799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546097556	chr8:8765809-8765810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563169536	chr8:8765813-8765814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557065229	chr8:8765821-8765822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34803132	chr8:8765843-8765844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529242124	chr8:8765848-8765849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549013592	chr8:8765849-8765850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562621170	chr8:8765861-8765862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59890653	chr8:8765899-8765900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531869677	chr8:8765900-8765901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547742180	chr8:8765926-8765927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190034897	chr8:8765943-8765944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17642782	chr8:8765951-8765952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12543940	chr8:8765994-8765995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570294672	chr8:8766004-8766005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17154924	chr8:8766047-8766048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144617653	chr8:8766202-8766203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569894117	chr8:8766223-8766224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375774935	chr8:8766244-8766245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147861307	chr8:8766265-8766266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542659752	chr8:8766282-8766283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:8758600-8775000	Weak transcription	Small Intestine	intestine
4	chr8:8759200-8770200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:8759200-8770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8762400-8766000	Weak transcription	Fetal Stomach	stomach
7	chr8:8762400-8769400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:8762400-8770800	Weak transcription	HUVEC	blood vessel
9	chr8:8763000-8770600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
11	chr8:8765400-8766400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:8765800-8766400	Enhancers	Stomach Mucosa	stomach
13	chr8:8766000-8766200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:8766000-8766200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:8766000-8766400	Enhancers	Fetal Kidney	kidney
16	chr8:8766000-8766400	Enhancers	Fetal Stomach	stomach
17	chr8:8766200-8769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:8766400-8769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:8766400-8775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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