Variant report

Variant	esv1793987
Chromosome Location	chr8:1184042-1194494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 250 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs576361066	chr8:1184042-1184043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6997759	chr8:1184046-1184047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs530932756	chr8:1184049-1184050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565068397	chr8:1184059-1184060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182870036	chr8:1184098-1184099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188388335	chr8:1184099-1184100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62486945	chr8:1184110-1184111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62486946	chr8:1184113-1184114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192875841	chr8:1184129-1184130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13267292	chr8:1184156-1184157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546361833	chr8:1184158-1184159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376895732	chr8:1184159-1184160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375484777	chr8:1184165-1184166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78407833	chr8:1184176-1184177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185458061	chr8:1184179-1184180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548411029	chr8:1184183-1184184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142178230	chr8:1184196-1184197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537056574	chr8:1184201-1184202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557380022	chr8:1184219-1184220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576448990	chr8:1184220-1184221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112102613	chr8:1184233-1184234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538911353	chr8:1184249-1184250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558820456	chr8:1184264-1184265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75477361	chr8:1184265-1184266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563119546	chr8:1184273-1184274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113849263	chr8:1184296-1184297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187740740	chr8:1184298-1184299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74503281	chr8:1184299-1184300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62486947	chr8:1184328-1184329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73670682	chr8:1184335-1184336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6984999	chr8:1184341-1184342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62486948	chr8:1184344-1184345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528702745	chr8:1184359-1184360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548719456	chr8:1184379-1184380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145246705	chr8:1184396-1184397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73529839	chr8:1184401-1184402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149176319	chr8:1184402-1184403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551021276	chr8:1184406-1184407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79069415	chr8:1184409-1184410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539808390	chr8:1184430-1184431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376675541	chr8:1184445-1184446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116157229	chr8:1184460-1184461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192305060	chr8:1184463-1184464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534527370	chr8:1184472-1184473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143230509	chr8:1184485-1184486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554740503	chr8:1184490-1184491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574496087	chr8:1184505-1184506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543093196	chr8:1184516-1184517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148307082	chr8:1184532-1184533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576447556	chr8:1184547-1184548	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1183000-1184400	Enhancers	Fetal Muscle Leg	muscle
2	chr8:1184000-1185600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1185000-1185600	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:1192600-1193000	Enhancers	Gastric	stomach
5	chr8:1192600-1193000	Enhancers	Spleen	Spleen
6	chr8:1193200-1193400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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