Variant report

Variant	esv3353865
Chromosome Location	chr8:63190198-63193196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377423085	chr8:63190204-63190205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535804111	chr8:63190215-63190216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371134639	chr8:63190320-63190321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80282321	chr8:63190355-63190356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575928737	chr8:63190357-63190358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374780081	chr8:63190358-63190359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539995507	chr8:63190367-63190368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369685787	chr8:63190371-63190372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372849298	chr8:63190374-63190375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558295098	chr8:63190471-63190472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs13255752	chr8:63190527-63190528	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540718929	chr8:63190541-63190542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73683080	chr8:63190582-63190583	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148389592	chr8:63190631-63190632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs80284904	chr8:63190632-63190633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs16928636	chr8:63190680-63190681	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530627868	chr8:63190685-63190686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545633426	chr8:63190717-63190718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564301885	chr8:63190727-63190728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528200340	chr8:63190729-63190730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs16928640	chr8:63190745-63190746	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567976162	chr8:63190848-63190849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538652972	chr8:63190865-63190866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs36075063	chr8:63190942-63190943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551302099	chr8:63190967-63190968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140547423	chr8:63191084-63191085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540130079	chr8:63191094-63191095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558439036	chr8:63191111-63191112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188091166	chr8:63191112-63191113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150838102	chr8:63191145-63191146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34389402	chr8:63191146-63191147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386412903	chr8:63191148-63191149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59863021	chr8:63191149-63191150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373714534	chr8:63191158-63191159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377533698	chr8:63191162-63191163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534068147	chr8:63191175-63191176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555798067	chr8:63191179-63191180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181418061	chr8:63191212-63191213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150465805	chr8:63191239-63191240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569214318	chr8:63191243-63191244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575192421	chr8:63191301-63191302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138288382	chr8:63191316-63191317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185660242	chr8:63191328-63191329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528252885	chr8:63191340-63191341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539973448	chr8:63191348-63191349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200424548	chr8:63191369-63191370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561773328	chr8:63191404-63191405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528908528	chr8:63191453-63191454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550638379	chr8:63191460-63191461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112854430	chr8:63191583-63191584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63163200-63190400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63189800-63190200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:63190400-63191000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr8:63191000-63209200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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