Variant report

Variant	esv3400385
Chromosome Location	chr8:3094845-3096143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541154730	chr8:3094862-3094863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561299478	chr8:3094886-3094887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530093618	chr8:3094922-3094923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550169221	chr8:3094928-3094929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569981289	chr8:3094956-3094957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532265266	chr8:3094990-3094991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143658678	chr8:3095004-3095005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565734462	chr8:3095006-3095007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534757815	chr8:3095013-3095014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551655370	chr8:3095045-3095046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201494657	chr8:3095086-3095087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138179702	chr8:3095090-3095091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202238644	chr8:3095097-3095098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191828277	chr8:3095111-3095112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536671214	chr8:3095156-3095157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201669306	chr8:3095163-3095164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200476526	chr8:3095167-3095168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368897645	chr8:3095173-3095174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372678988	chr8:3095174-3095175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530632654	chr8:3095185-3095186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182131606	chr8:3095217-3095218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375906481	chr8:3095220-3095221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376712802	chr8:3095241-3095242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370789139	chr8:3095245-3095246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146269909	chr8:3095249-3095250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201818386	chr8:3095281-3095282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193212286	chr8:3095284-3095285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185562397	chr8:3095290-3095291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190821827	chr8:3095313-3095314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192883049	chr8:3095316-3095317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184656971	chr8:3095345-3095346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200272671	chr8:3095348-3095349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62504968	chr8:3095377-3095378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373761043	chr8:3095394-3095395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71199548	chr8:3095401-3095402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34080472	chr8:3095412-3095413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62504970	chr8:3095420-3095421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62504971	chr8:3095423-3095424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187181951	chr8:3095466-3095467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572530079	chr8:3095489-3095490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200983772	chr8:3095520-3095521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557943393	chr8:3095521-3095522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561389066	chr8:3095525-3095526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143078550	chr8:3095526-3095527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192483119	chr8:3095528-3095529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145147818	chr8:3095542-3095543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181677752	chr8:3095549-3095550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185977335	chr8:3095553-3095554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112576460	chr8:3095591-3095592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567370419	chr8:3095608-3095609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Cancer	20164919	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3094600-3096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:3094800-3095000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:3095000-3096200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:3095200-3096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:3095800-3096000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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