Variant report

Variant	nsv609711
Chromosome Location	chr8:2887210-2889132
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	chr8:2884129..2886374-chr8:2888333..2890117,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79924874	chr8:2887213-2887214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77129098	chr8:2887224-2887225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149308710	chr8:2887232-2887233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533531943	chr8:2887234-2887235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546898182	chr8:2887237-2887238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533379749	chr8:2887246-2887247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186174447	chr8:2887262-2887263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529414494	chr8:2887273-2887274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549387911	chr8:2887309-2887310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569319578	chr8:2887311-2887312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143530173	chr8:2887319-2887320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566818985	chr8:2887330-2887331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79228162	chr8:2887395-2887396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141453410	chr8:2887397-2887398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374027582	chr8:2887406-2887407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533942387	chr8:2887421-2887422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529411691	chr8:2887426-2887427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78587794	chr8:2887447-2887448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189629890	chr8:2887455-2887456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77794683	chr8:2887484-2887485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555721480	chr8:2887520-2887521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549061534	chr8:2887552-2887553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs641282	chr8:2887572-2887573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544690892	chr8:2887591-2887592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182677123	chr8:2887606-2887607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578187999	chr8:2887674-2887675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs637194	chr8:2887695-2887696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555262885	chr8:2887698-2887699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187005737	chr8:2887703-2887704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73181712	chr8:2887708-2887709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs614021	chr8:2887710-2887711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562723883	chr8:2887714-2887715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531703536	chr8:2887731-2887732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369599958	chr8:2887754-2887755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77793132	chr8:2887818-2887819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189918123	chr8:2887827-2887828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527631341	chr8:2887839-2887840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62487759	chr8:2887848-2887849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576353751	chr8:2887858-2887859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139905268	chr8:2887859-2887860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80176884	chr8:2887867-2887868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75372087	chr8:2887872-2887873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13258764	chr8:2887904-2887905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183707318	chr8:2887931-2887932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538580077	chr8:2887933-2887934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544123101	chr8:2887937-2887938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558275658	chr8:2887944-2887945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543691115	chr8:2887947-2887948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75087508	chr8:2887961-2887962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554385158	chr8:2887974-2887975	Weak transcription	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
Cancer	20164919	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2858600-2887600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:2887000-2892400	Weak transcription	Pancreas	Pancrea

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