Variant report

Variant	nsv438029
Chromosome Location	chr8:5651001-5653604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5653098..5655133-chr8:5666888..5669291,2	MCF-7	breast:

Extended variants
information (count: 231 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1858459	chr8:5651001-5651002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188004322	chr8:5651007-5651008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565523904	chr8:5651010-5651011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532924216	chr8:5651060-5651061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193154061	chr8:5651077-5651078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571111055	chr8:5651089-5651090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538579431	chr8:5651090-5651091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149756878	chr8:5651091-5651092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568665630	chr8:5651100-5651101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7000291	chr8:5651118-5651119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535560881	chr8:5651119-5651120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386721615	chr8:5651124-5651125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554202832	chr8:5651126-5651127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545742059	chr8:5651137-5651138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557741359	chr8:5651160-5651161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575925026	chr8:5651165-5651166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539921779	chr8:5651193-5651194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144621499	chr8:5651215-5651216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148469964	chr8:5651224-5651225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540884906	chr8:5651231-5651232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559462737	chr8:5651245-5651246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183603717	chr8:5651252-5651253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1849396	chr8:5651253-5651254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563319228	chr8:5651283-5651284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57402412	chr8:5651284-5651285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550483029	chr8:5651287-5651288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568672620	chr8:5651303-5651304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541728212	chr8:5651306-5651307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536017987	chr8:5651319-5651320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561648092	chr8:5651338-5651339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112516186	chr8:5651348-5651349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539587526	chr8:5651386-5651387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192622804	chr8:5651392-5651393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558498896	chr8:5651406-5651407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375259163	chr8:5651424-5651425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6980919	chr8:5651425-5651426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372571402	chr8:5651431-5651432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555603412	chr8:5651468-5651469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142494999	chr8:5651475-5651476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573876346	chr8:5651504-5651505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541174362	chr8:5651505-5651506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559598612	chr8:5651511-5651512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78093468	chr8:5651514-5651515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545153018	chr8:5651541-5651542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563256893	chr8:5651562-5651563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184780953	chr8:5651567-5651568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548722160	chr8:5651574-5651575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76014976	chr8:5651631-5651632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75280694	chr8:5651633-5651634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140931819	chr8:5651640-5651641	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5648200-5654000	Enhancers	Dnd41	blood
2	chr8:5652000-5652600	Enhancers	Fetal Brain Female	brain
3	chr8:5652600-5653000	Enhancers	Fetal Brain Male	brain

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