Variant report

Variant	esv3384268
Chromosome Location	chr8:5067394-5071292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 232 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536418972	chr8:5067450-5067451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555900206	chr8:5067482-5067483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62491242	chr8:5067491-5067492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557244618	chr8:5067510-5067511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541475517	chr8:5067516-5067517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6992422	chr8:5067537-5067538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578216657	chr8:5067547-5067548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112624074	chr8:5067639-5067640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563981672	chr8:5067649-5067650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531018172	chr8:5067661-5067662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542774620	chr8:5067662-5067663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529609113	chr8:5067669-5067670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560689814	chr8:5067670-5067671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528170912	chr8:5067704-5067705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546218621	chr8:5067717-5067718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571142461	chr8:5067763-5067764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532096285	chr8:5067770-5067771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550621058	chr8:5067776-5067777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186465449	chr8:5067790-5067791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7823597	chr8:5067820-5067821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7840332	chr8:5067824-5067825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369060767	chr8:5067846-5067847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372404124	chr8:5067852-5067853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147373241	chr8:5067862-5067863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573296437	chr8:5067866-5067867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6558982	chr8:5067872-5067873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139293302	chr8:5067877-5067878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577977804	chr8:5067912-5067913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369559817	chr8:5067917-5067918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114713242	chr8:5067925-5067926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73515442	chr8:5067927-5067928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575888186	chr8:5067941-5067942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542860359	chr8:5067943-5067944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11774706	chr8:5067970-5067971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528207387	chr8:5067975-5067976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539956846	chr8:5068001-5068002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75163189	chr8:5068005-5068006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188095346	chr8:5068035-5068036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367944521	chr8:5068045-5068046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180865761	chr8:5068063-5068064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148577946	chr8:5068070-5068071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530010707	chr8:5068071-5068072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548430346	chr8:5068076-5068077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115397252	chr8:5068083-5068084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186238318	chr8:5068115-5068116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142813152	chr8:5068117-5068118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571677056	chr8:5068132-5068133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77221071	chr8:5068133-5068134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150623958	chr8:5068148-5068149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191110179	chr8:5068152-5068153	Weak transcription	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
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
Type 2 diabetes	21526130	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5065000-5070000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:5066200-5070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:5069200-5069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:5069600-5070000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:5070000-5070200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:5070000-5070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:5070000-5070600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:5070000-5071200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:5070200-5071000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:5070200-5071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:5071000-5071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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