Variant report

Variant	esv3384990
Chromosome Location	chr8:5639244-5641192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371197973	chr8:5640203-5640204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531744832	chr8:5640204-5640205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6559048	chr8:5640236-5640237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs141904843	chr8:5640262-5640263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545521060	chr8:5640272-5640273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190277079	chr8:5640274-5640275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77092976	chr8:5640304-5640305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563833854	chr8:5640307-5640308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552887522	chr8:5640310-5640311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577722030	chr8:5640323-5640324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79094080	chr8:5640327-5640328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146270387	chr8:5640339-5640340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79643749	chr8:5640340-5640341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181494227	chr8:5640404-5640405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371971245	chr8:5640432-5640433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115660289	chr8:5640433-5640434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529357945	chr8:5640438-5640439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77278015	chr8:5640440-5640441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186896495	chr8:5640444-5640445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74433814	chr8:5640449-5640450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551242163	chr8:5640467-5640468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569652312	chr8:5640471-5640472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530730755	chr8:5640480-5640481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549135179	chr8:5640486-5640487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191973559	chr8:5640498-5640499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148471867	chr8:5640507-5640508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74510806	chr8:5640510-5640511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141632032	chr8:5640519-5640520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370618893	chr8:5640550-5640551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183711250	chr8:5640551-5640552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150502201	chr8:5640558-5640559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189096155	chr8:5640597-5640598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139523545	chr8:5640618-5640619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565092056	chr8:5640636-5640637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144291703	chr8:5640650-5640651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74738565	chr8:5640653-5640654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17454900	chr8:5640658-5640659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540695138	chr8:5640660-5640661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77776063	chr8:5640662-5640663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544967880	chr8:5640667-5640668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563364781	chr8:5640674-5640675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530787237	chr8:5640683-5640684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549016890	chr8:5640689-5640690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147726991	chr8:5640698-5640699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528250799	chr8:5640699-5640700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528320022	chr8:5640721-5640722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536977142	chr8:5640727-5640728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117836153	chr8:5640735-5640736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571400478	chr8:5640743-5640744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76510730	chr8:5640768-5640769	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5640200-5640600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:5640200-5641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:5641000-5641200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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