Variant report

Variant	nsv524085
Chromosome Location	chr8:4812436-4816030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7815832	chr8:4812436-4812437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554056133	chr8:4812438-4812439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566291489	chr8:4812446-4812447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376390324	chr8:4812498-4812499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6558947	chr8:4812519-4812520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575907669	chr8:4812534-4812535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537655043	chr8:4812541-4812542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543019490	chr8:4812556-4812557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13282812	chr8:4812557-4812558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs577478646	chr8:4812566-4812567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573615947	chr8:4812567-4812568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540962991	chr8:4812583-4812584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6988561	chr8:4812593-4812594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs545933608	chr8:4812602-4812603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185289262	chr8:4812648-4812649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76475561	chr8:4812649-4812650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373271115	chr8:4812656-4812657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13261975	chr8:4812661-4812662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550212142	chr8:4812669-4812670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191186766	chr8:4812676-4812677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368509232	chr8:4812680-4812681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372790508	chr8:4812684-4812685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375483060	chr8:4812692-4812693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183394573	chr8:4812708-4812709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6558948	chr8:4812710-4812711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141533079	chr8:4812711-4812712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187195335	chr8:4812729-4812730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569436245	chr8:4812750-4812751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551018619	chr8:4812752-4812753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536617701	chr8:4812754-4812755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13269761	chr8:4812767-4812768	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs146170822	chr8:4812779-4812780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191672100	chr8:4812780-4812781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139084480	chr8:4812802-4812803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577714177	chr8:4812803-4812804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10081536	chr8:4812812-4812813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs77293935	chr8:4812823-4812824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149916302	chr8:4812824-4812825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552224458	chr8:4812840-4812841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565671329	chr8:4812842-4812843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7463075	chr8:4812859-4812860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371283034	chr8:4812868-4812869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548259862	chr8:4812877-4812878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529346311	chr8:4812878-4812879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368532569	chr8:4812922-4812923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183536798	chr8:4812933-4812934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568170248	chr8:4812940-4812941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559999042	chr8:4812946-4812947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373701682	chr8:4812979-4812980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533336918	chr8:4812982-4812983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Breast cancer	21364760	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4811200-4813000	Enhancers	Adipose Nuclei	Adipose
2	chr8:4811800-4813600	Enhancers	Liver	Liver
3	chr8:4815200-4815800	Enhancers	Fetal Brain Male	brain
4	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain

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