Variant report

Variant	esv3395638
Chromosome Location	chr8:3527594-3529892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532319461	chr8:3529202-3529203	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73183305	chr8:3529213-3529214	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551624829	chr8:3529223-3529224	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530129965	chr8:3529251-3529252	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548712895	chr8:3529265-3529266	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7838406	chr8:3529287-3529288	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370189465	chr8:3529325-3529326	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372581854	chr8:3529330-3529331	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527833961	chr8:3529332-3529333	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533945770	chr8:3529335-3529336	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536180705	chr8:3529340-3529341	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534316270	chr8:3529355-3529356	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191845945	chr8:3529358-3529359	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200650314	chr8:3529388-3529389	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556469840	chr8:3529393-3529394	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62474695	chr8:3529403-3529404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13272712	chr8:3529411-3529412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543078706	chr8:3529427-3529428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141020719	chr8:3529441-3529442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572842370	chr8:3529446-3529447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184130705	chr8:3529474-3529475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73183306	chr8:3529512-3529513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377576814	chr8:3529520-3529521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7815362	chr8:3529525-3529526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188890356	chr8:3529547-3529548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113819185	chr8:3529581-3529582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73183307	chr8:3529596-3529597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529930561	chr8:3529598-3529599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375313290	chr8:3529600-3529601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116265489	chr8:3529613-3529614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80147417	chr8:3529627-3529628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73183308	chr8:3529634-3529635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112643904	chr8:3529638-3529639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570551364	chr8:3529640-3529641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73183309	chr8:3529643-3529644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550478628	chr8:3529644-3529645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73183311	chr8:3529670-3529671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141141906	chr8:3529675-3529676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367557215	chr8:3529691-3529692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572978328	chr8:3529693-3529694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112140954	chr8:3529695-3529696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73183312	chr8:3529697-3529698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558579629	chr8:3529698-3529699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191779437	chr8:3529703-3529704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544159385	chr8:3529720-3529721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562813862	chr8:3529749-3529750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574516618	chr8:3529792-3529793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542008884	chr8:3529793-3529794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79392987	chr8:3529833-3529834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527769026	chr8:3529834-3529835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3529200-3529400	ZNF genes & repeats	Gastric	stomach
2	chr8:3529200-3530200	Enhancers	Fetal Heart	heart

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