Variant report

Variant	esv3360149
Chromosome Location	chr8:3368188-3368909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536362926	chr8:3368190-3368191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555082954	chr8:3368194-3368195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111702810	chr8:3368200-3368201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11267262	chr8:3368201-3368202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142636684	chr8:3368202-3368203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573237698	chr8:3368215-3368216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536702426	chr8:3368230-3368231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534454230	chr8:3368258-3368259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117397434	chr8:3368300-3368301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576930225	chr8:3368306-3368307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144018997	chr8:3368314-3368315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188145521	chr8:3368316-3368317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111385208	chr8:3368329-3368330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563292494	chr8:3368341-3368342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181061404	chr8:3368352-3368353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187027315	chr8:3368358-3368359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147294292	chr8:3368380-3368381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528169939	chr8:3368381-3368382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540460976	chr8:3368384-3368385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564692832	chr8:3368389-3368390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532296024	chr8:3368391-3368392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550427568	chr8:3368393-3368394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192313358	chr8:3368397-3368398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181619882	chr8:3368398-3368399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542235898	chr8:3368426-3368427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140887926	chr8:3368433-3368434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186024617	chr8:3368434-3368435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190739260	chr8:3368445-3368446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559108468	chr8:3368450-3368451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571026748	chr8:3368519-3368520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538551169	chr8:3368521-3368522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386721042	chr8:3368524-3368525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6991544	chr8:3368525-3368526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554257252	chr8:3368537-3368538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564500304	chr8:3368547-3368548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544675477	chr8:3368557-3368558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144332108	chr8:3368558-3368559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11777099	chr8:3368567-3368568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182660524	chr8:3368591-3368592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187312828	chr8:3368603-3368604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7010023	chr8:3368606-3368607	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529939513	chr8:3368615-3368616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190619379	chr8:3368616-3368617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527804892	chr8:3368635-3368636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182861568	chr8:3368640-3368641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535303588	chr8:3368674-3368675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188659568	chr8:3368683-3368684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556791687	chr8:3368694-3368695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373173016	chr8:3368699-3368700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568775142	chr8:3368714-3368715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3362000-3368600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3368600-3369000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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