Variant report

Variant	esv3376623
Chromosome Location	chr8:79074446-79094840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62510332	chr8:79074462-79074463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62510333	chr8:79074490-79074491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144800427	chr8:79074504-79074505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545887123	chr8:79074517-79074518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370884634	chr8:79074534-79074535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117976596	chr8:79074562-79074563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550940551	chr8:79074589-79074590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180988786	chr8:79089070-79089071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185449434	chr8:79089097-79089098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530224081	chr8:79089125-79089126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552722384	chr8:79089127-79089128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577417803	chr8:79089128-79089129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190210954	chr8:79089158-79089159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs377710228	chr8:79091034-79091035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34064734	chr8:79091035-79091036	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191420423	chr8:79091102-79091103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534029959	chr8:79091109-79091110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568870526	chr8:79091144-79091145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552508406	chr8:79091230-79091231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570450959	chr8:79091239-79091240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183897108	chr8:79091244-79091245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555963725	chr8:79091268-79091269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35334031	chr8:79091349-79091350	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535212801	chr8:79091357-79091358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554715681	chr8:79091369-79091370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62508008	chr8:79091372-79091373	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111596861	chr8:79091375-79091376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114438485	chr8:79091390-79091391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565278599	chr8:79091407-79091408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191840482	chr8:79091454-79091455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142328280	chr8:79091467-79091468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541271546	chr8:79091480-79091481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562753554	chr8:79091537-79091538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530177979	chr8:79091545-79091546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs151255757	chr8:79091593-79091594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34219583	chr8:79091607-79091608	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527522070	chr8:79091631-79091632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574625710	chr8:79091662-79091663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570787939	chr8:79091680-79091681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139253114	chr8:79091691-79091692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563553611	chr8:79091692-79091693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35316312	chr8:79091727-79091728	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115198167	chr8:79091738-79091739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116569084	chr8:79091739-79091740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553462484	chr8:79091752-79091753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566716634	chr8:79091753-79091754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144551372	chr8:79091758-79091759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190263247	chr8:79091772-79091773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577429993	chr8:79091803-79091804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544598503	chr8:79091811-79091812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79074200-79074600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:79089000-79089200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:79091000-79092200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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