Variant report

Variant	nsv8271
Chromosome Location	chr8:6039132-6045466
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	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
2	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535445318	chr8:6041206-6041207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555755554	chr8:6041268-6041269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182797034	chr8:6041278-6041279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571156613	chr8:6041283-6041284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187487890	chr8:6041284-6041285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534465401	chr8:6041285-6041286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193081944	chr8:6041286-6041287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146352955	chr8:6041288-6041289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371250070	chr8:6041295-6041296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578236749	chr8:6041311-6041312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2570656	chr8:6041316-6041317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2248830	chr8:6041320-6041321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2552194	chr8:6041327-6041328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541413526	chr8:6041328-6041329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150252183	chr8:6041338-6041339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527376039	chr8:6041391-6041392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576092171	chr8:6041405-6041406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138788815	chr8:6041412-6041413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184232251	chr8:6041442-6041443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532991740	chr8:6041478-6041479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11995460	chr8:6041508-6041509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572343803	chr8:6041510-6041511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2552195	chr8:6041570-6041571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148959010	chr8:6041573-6041574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549069356	chr8:6041591-6041592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566109285	chr8:6041610-6041611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145623522	chr8:6041621-6041622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558313194	chr8:6041622-6041623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188780898	chr8:6041634-6041635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549166535	chr8:6041638-6041639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537609274	chr8:6041653-6041654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562693628	chr8:6041670-6041671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557554183	chr8:6041684-6041685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574209820	chr8:6041692-6041693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370256024	chr8:6041698-6041699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2552196	chr8:6041701-6041702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555064098	chr8:6041702-6041703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371656271	chr8:6041706-6041707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138214471	chr8:6041720-6041721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2552197	chr8:6041731-6041732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142621341	chr8:6041757-6041758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577338386	chr8:6041763-6041764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374887324	chr8:6041769-6041770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543208595	chr8:6041771-6041772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146027057	chr8:6041777-6041778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529168920	chr8:6041785-6041786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571359442	chr8:6041802-6041803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2570655	chr8:6041815-6041816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555226868	chr8:6041825-6041826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564118924	chr8:6041867-6041868	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6041200-6042600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:6041400-6042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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