Variant report

Variant	esv2761177
Chromosome Location	chr8:5069057-5076672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs12549617	chr8:5069057-5069058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574577233	chr8:5069074-5069075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4392923	chr8:5069082-5069083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552846965	chr8:5069114-5069115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143178980	chr8:5069137-5069138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572404715	chr8:5069173-5069174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546096155	chr8:5069207-5069208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571701483	chr8:5069226-5069227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564199524	chr8:5069246-5069247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541993770	chr8:5069273-5069274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138685087	chr8:5069277-5069278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188009657	chr8:5069298-5069299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192638649	chr8:5069306-5069307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141124053	chr8:5069321-5069322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11986432	chr8:5069324-5069325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574659006	chr8:5069379-5069380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527651311	chr8:5069384-5069385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184943569	chr8:5069398-5069399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35090293	chr8:5069452-5069453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188214084	chr8:5069453-5069454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563536291	chr8:5069512-5069513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146959253	chr8:5069526-5069527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114036225	chr8:5069529-5069530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137961835	chr8:5069534-5069535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568190408	chr8:5069542-5069543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535530651	chr8:5069554-5069555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192161712	chr8:5069563-5069564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532346402	chr8:5069571-5069572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73188893	chr8:5069592-5069593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11997861	chr8:5069604-5069605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576246382	chr8:5069630-5069631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543646673	chr8:5069643-5069644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374583733	chr8:5069644-5069645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150446127	chr8:5069649-5069650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530167181	chr8:5069656-5069657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10096941	chr8:5069682-5069683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11777286	chr8:5069685-5069686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9314560	chr8:5069719-5069720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184710758	chr8:5069733-5069734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572744681	chr8:5069751-5069752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189421203	chr8:5069819-5069820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571171109	chr8:5069832-5069833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182024445	chr8:5069841-5069842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538673956	chr8:5069851-5069852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568689236	chr8:5069855-5069856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536031535	chr8:5069861-5069862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553909769	chr8:5069890-5069891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565599384	chr8:5069923-5069924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118033336	chr8:5069928-5069929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557462350	chr8:5069951-5069952	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:12 , 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
12	chr8:5073400-5073800	Active TSS	Spleen	Spleen

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