Variant report

Variant	esv2011197
Chromosome Location	chr8:1610845-1611347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 115 )

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	rs143433793	chr8:1610854-1610855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367692276	chr8:1610860-1610861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536768507	chr8:1610867-1610868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556981983	chr8:1610880-1610881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187468591	chr8:1610904-1610905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs545974587	chr8:1610907-1610908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs57171246	chr8:1610909-1610910	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74304043	chr8:1610918-1610919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561105966	chr8:1610928-1610929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530079956	chr8:1610958-1610959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147990253	chr8:1610964-1610965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7461845	chr8:1610985-1610986	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532603471	chr8:1611010-1611011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62483117	chr8:1611014-1611015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56299051	chr8:1611024-1611025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57829578	chr8:1611025-1611026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58729582	chr8:1611039-1611040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111939997	chr8:1611046-1611047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59577506	chr8:1611047-1611048	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55733601	chr8:1611048-1611049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537009333	chr8:1611049-1611050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556782192	chr8:1611053-1611054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34588891	chr8:1611078-1611079	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539685098	chr8:1611099-1611100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553189492	chr8:1611105-1611106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61593968	chr8:1611114-1611115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56369604	chr8:1611121-1611122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201558110	chr8:1611127-1611128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55930860	chr8:1611135-1611136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56228671	chr8:1611141-1611142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567436086	chr8:1611142-1611143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55634392	chr8:1611148-1611149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555603710	chr8:1611149-1611150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574752824	chr8:1611161-1611162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566366314	chr8:1611168-1611169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61106333	chr8:1611169-1611170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57259907	chr8:1611170-1611171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543756042	chr8:1611175-1611176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563669676	chr8:1611176-1611177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57792871	chr8:1611182-1611183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114442882	chr8:1611225-1611226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546012893	chr8:1611234-1611235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375674706	chr8:1611243-1611244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556285873	chr8:1611266-1611267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113589119	chr8:1611293-1611294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528626464	chr8:1611294-1611295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199738619	chr8:1611304-1611305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200291796	chr8:1611305-1611306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372040370	chr8:1611306-1611307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548610461	chr8:1611307-1611308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1610800-1611400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1610800-1611400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:1610800-1611400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr8:1610800-1611600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1611000-1611400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:1611000-1611400	ZNF genes & repeats	Fetal Kidney	kidney
7	chr8:1611000-1620800	Weak transcription	Right Atrium	heart

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