Variant report

Variant	nsv890040
Chromosome Location	chr8:6031012-6065210
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: 313 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139292574	chr8:6032463-6032464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372789501	chr8:6032472-6032473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564153480	chr8:6032499-6032500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533222020	chr8:6032512-6032513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113934678	chr8:6032525-6032526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150010681	chr8:6032528-6032529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529530489	chr8:6032529-6032530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184082925	chr8:6032541-6032542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566411772	chr8:6032547-6032548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535355321	chr8:6032557-6032558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529833320	chr8:6032561-6032562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114737236	chr8:6032562-6032563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79529218	chr8:6032582-6032583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539123065	chr8:6032583-6032584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117623980	chr8:6032593-6032594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149135532	chr8:6032596-6032597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535669677	chr8:6032607-6032608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546819214	chr8:6032629-6032630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368974298	chr8:6032640-6032641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112151225	chr8:6032673-6032674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540946670	chr8:6032684-6032685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557681595	chr8:6032692-6032693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577976960	chr8:6032711-6032712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12542866	chr8:6032722-6032723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568301304	chr8:6032728-6032729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4543562	chr8:6032731-6032732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543172770	chr8:6032736-6032737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192170550	chr8:6032752-6032753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146460775	chr8:6032753-6032754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375005986	chr8:6032754-6032755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570456621	chr8:6032755-6032756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4510891	chr8:6032757-6032758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs549590353	chr8:6032765-6032766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147844353	chr8:6032788-6032789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535210714	chr8:6032792-6032793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183840744	chr8:6032798-6032799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552367481	chr8:6037410-6037411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562676480	chr8:6037413-6037414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186707214	chr8:6037414-6037415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373494660	chr8:6037415-6037416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548329340	chr8:6037423-6037424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190461316	chr8:6037425-6037426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534217734	chr8:6037452-6037453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548117432	chr8:6037468-6037469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181634480	chr8:6037474-6037475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2570660	chr8:6037491-6037492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs566795763	chr8:6037503-6037504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151185353	chr8:6037504-6037505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568948788	chr8:6037512-6037513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140336948	chr8:6037523-6037524	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6032400-6032800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:6037400-6038600	Enhancers	NHDF-Ad	bronchial
3	chr8:6037400-6039000	Enhancers	Hela-S3	cervix
4	chr8:6037800-6038200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:6037800-6038600	Enhancers	Osteobl	bone
6	chr8:6037800-6038800	Enhancers	NH-A	brain
7	chr8:6038400-6039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:6041200-6042600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:6041400-6042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6054800-6055200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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