Variant report

Variant	nsv609818
Chromosome Location	chr8:4093118-4111124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 280 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:280 , 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	rs1714684	chr8:4093118-4093119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151133760	chr8:4093128-4093129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527342857	chr8:4093129-4093130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141150136	chr8:4093176-4093177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183557531	chr8:4093186-4093187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146938678	chr8:4093198-4093199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187026692	chr8:4093202-4093203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137997075	chr8:4093219-4093220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142108596	chr8:4093220-4093221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191513374	chr8:4093234-4093235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536209035	chr8:4093278-4093279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150455838	chr8:4093304-4093305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377336261	chr8:4093310-4093311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564313225	chr8:4093311-4093312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182490558	chr8:4093316-4093317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545686347	chr8:4093317-4093318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543180213	chr8:4093323-4093324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561707778	chr8:4093324-4093325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528894880	chr8:4093326-4093327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548039670	chr8:4093339-4093340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114990338	chr8:4093355-4093356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533488203	chr8:4093370-4093371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369025553	chr8:4093377-4093378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138275307	chr8:4093398-4093399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374526756	chr8:4093405-4093406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555596750	chr8:4093408-4093409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77143819	chr8:4093418-4093419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1714685	chr8:4093419-4093420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544971101	chr8:4093438-4093439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554066691	chr8:4093455-4093456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186814876	chr8:4093487-4093488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117806248	chr8:4093504-4093505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192637604	chr8:4093512-4093513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576189699	chr8:4093543-4093544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199537665	chr8:4093549-4093550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200901331	chr8:4093553-4093554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6150444	chr8:4093555-4093556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112730645	chr8:4093556-4093557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113448301	chr8:4093557-4093558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7006597	chr8:4093561-4093562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28576907	chr8:4093565-4093566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75936198	chr8:4093571-4093572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200480951	chr8:4093572-4093573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75615136	chr8:4093577-4093578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140126445	chr8:4093579-4093580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28653371	chr8:4093593-4093594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367913332	chr8:4093599-4093600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558749051	chr8:4100402-4100403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577133325	chr8:4100476-4100477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142335405	chr8:4100488-4100489	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4092800-4093400	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:4093400-4093600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:4100400-4102000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:4100600-4101800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:4100800-4101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:4101400-4101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:4101400-4101800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:4107400-4108600	Bivalent Enhancer	Fetal Heart	heart

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