Variant report

Variant	nsv889987
Chromosome Location	chr8:5169388-5185589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6997443	chr8:5169388-5169389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7001619	chr8:5169400-5169401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146549222	chr8:5169445-5169446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570390312	chr8:5169447-5169448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369694066	chr8:5169448-5169449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527318334	chr8:5169451-5169452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560711160	chr8:5169452-5169453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112295742	chr8:5169453-5169454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188008695	chr8:5169470-5169471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12549479	chr8:5169490-5169491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534807640	chr8:5169537-5169538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565470964	chr8:5169571-5169572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115662900	chr8:5169576-5169577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538475988	chr8:5169590-5169591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556825267	chr8:5169596-5169597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575185486	chr8:5169604-5169605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111979468	chr8:5169616-5169617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116066999	chr8:5169619-5169620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117397262	chr8:5169680-5169681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572855672	chr8:5169693-5169694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141181548	chr8:5169701-5169702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565038005	chr8:5169706-5169707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578092951	chr8:5169728-5169729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545652176	chr8:5169736-5169737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551092100	chr8:5169740-5169741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143300740	chr8:5169741-5169742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6558999	chr8:5169768-5169769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78821719	chr8:5169772-5169773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7821588	chr8:5169782-5169783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546759090	chr8:5169803-5169804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571748372	chr8:5169820-5169821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563364085	chr8:5169821-5169822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67834752	chr8:5169846-5169847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550384947	chr8:5169855-5169856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553931055	chr8:5169861-5169862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191371139	chr8:5169872-5169873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370830016	chr8:5169879-5169880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536150449	chr8:5169883-5169884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11987775	chr8:5169884-5169885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6992083	chr8:5169935-5169936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140493777	chr8:5169945-5169946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7011749	chr8:5169976-5169977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6559000	chr8:5169992-5169993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115278945	chr8:5169998-5169999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376294136	chr8:5178403-5178404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532082942	chr8:5178412-5178413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148528812	chr8:5178416-5178417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115502894	chr8:5178433-5178434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1004178	chr8:5178445-5178446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548330203	chr8:5178448-5178449	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5169200-5170000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:5169400-5169800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:5178400-5179000	Enhancers	NHEK	skin
4	chr8:5178600-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:5178800-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:5178800-5179400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr8:5179000-5179400	Active TSS	A549	lung

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