Variant report

Variant	nsv1015757
Chromosome Location	chr8:5081032-5091271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 274 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61364604	chr8:5082000-5082001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574265575	chr8:5082002-5082003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558956576	chr8:5082010-5082011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138616097	chr8:5082019-5082020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554633602	chr8:5082023-5082024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572948751	chr8:5082051-5082052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149295729	chr8:5082061-5082062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565471105	chr8:5082086-5082087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143608716	chr8:5082091-5082092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113071107	chr8:5082106-5082107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193286645	chr8:5082107-5082108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184222717	chr8:5082108-5082109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548346426	chr8:5082129-5082130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560286499	chr8:5082142-5082143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375971854	chr8:5082144-5082145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138085631	chr8:5082158-5082159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552137598	chr8:5082162-5082163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570320457	chr8:5082189-5082190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184015590	chr8:5082400-5082401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188746625	chr8:5082401-5082402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527400281	chr8:5082429-5082430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386721479	chr8:5082440-5082441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376880866	chr8:5082441-5082442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114107954	chr8:5082442-5082443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139799958	chr8:5082445-5082446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141228736	chr8:5082458-5082459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75532878	chr8:5082464-5082465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76435439	chr8:5082472-5082473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565708619	chr8:5082486-5082487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375061931	chr8:5082492-5082493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150742036	chr8:5082516-5082517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558739731	chr8:5082524-5082525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181708398	chr8:5082582-5082583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111961810	chr8:5082587-5082588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538240437	chr8:5082595-5082596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556924644	chr8:5082618-5082619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575170430	chr8:5082626-5082627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542509737	chr8:5082629-5082630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574799329	chr8:5082642-5082643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115946266	chr8:5082644-5082645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572503182	chr8:5082666-5082667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187146233	chr8:5082676-5082677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557868887	chr8:5082700-5082701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4242502	chr8:5082706-5082707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190333237	chr8:5082721-5082722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139890141	chr8:5082740-5082741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561313104	chr8:5082747-5082748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182506519	chr8:5082756-5082757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185213798	chr8:5082780-5082781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565875663	chr8:5082788-5082789	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5082000-5082200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5082400-5083200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:5082800-5083000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:5085000-5085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:5087000-5089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:5087600-5087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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