Variant report

Variant	nsv525017
Chromosome Location	chr8:3169275-3189896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 921 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs997481	chr8:3169275-3169276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536105410	chr8:3169278-3169279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554171256	chr8:3169280-3169281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572989389	chr8:3169295-3169296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7843299	chr8:3169299-3169300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17079887	chr8:3169300-3169301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143292344	chr8:3169303-3169304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377587098	chr8:3169304-3169305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76206030	chr8:3169311-3169312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553809770	chr8:3169335-3169336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200681735	chr8:3169336-3169337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576991012	chr8:3169343-3169344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555359562	chr8:3169345-3169346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7843433	chr8:3169351-3169352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562640700	chr8:3169352-3169353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17079888	chr8:3169388-3169389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62504441	chr8:3169415-3169416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192203140	chr8:3169439-3169440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140047085	chr8:3169446-3169447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552128964	chr8:3169453-3169454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533401295	chr8:3169454-3169455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570531054	chr8:3169456-3169457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542906996	chr8:3169484-3169485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531658717	chr8:3169488-3169489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369842169	chr8:3169492-3169493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7838925	chr8:3169506-3169507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556605608	chr8:3169507-3169508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568592564	chr8:3169543-3169544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1910376	chr8:3169567-3169568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145139931	chr8:3169571-3169572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7820348	chr8:3169587-3169588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117214700	chr8:3169623-3169624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558559814	chr8:3169624-3169625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370565863	chr8:3169629-3169630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576932688	chr8:3169634-3169635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537902736	chr8:3169657-3169658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565364626	chr8:3169681-3169682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1910377	chr8:3169686-3169687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs202089746	chr8:3169687-3169688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558208212	chr8:3169726-3169727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184821077	chr8:3169727-3169728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541558498	chr8:3169744-3169745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76639700	chr8:3169773-3169774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561293968	chr8:3169774-3169775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188040961	chr8:3169790-3169791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550595323	chr8:3169797-3169798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545705072	chr8:3169801-3169802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1910378	chr8:3169808-3169809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531599918	chr8:3169818-3169819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113922014	chr8:3169820-3169821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3168000-3172400	Weak transcription	Fetal Kidney	kidney
2	chr8:3172400-3172600	Enhancers	Fetal Kidney	kidney
3	chr8:3172600-3173000	Weak transcription	Fetal Kidney	kidney
4	chr8:3176400-3176600	Enhancers	Fetal Kidney	kidney
5	chr8:3178600-3179200	Enhancers	Fetal Brain Male	brain
6	chr8:3179200-3180200	Weak transcription	Fetal Brain Male	brain
7	chr8:3180000-3180400	Enhancers	Lung	lung
8	chr8:3180000-3182000	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:3180200-3180400	Enhancers	Fetal Brain Male	brain
10	chr8:3185400-3185800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:3188000-3215600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:3189800-3190200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:3189800-3190800	Enhancers	Gastric	stomach

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