Variant report

Variant	esv3481215
Chromosome Location	chr8:85434779-85437268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368326033	chr8:85434838-85434839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372555393	chr8:85434843-85434844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554612721	chr8:85434853-85434854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117776351	chr8:85434859-85434860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540085651	chr8:85434913-85434914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374114394	chr8:85434948-85434949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4740020	chr8:85434959-85434960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188509383	chr8:85434997-85434998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545521622	chr8:85435012-85435013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565336721	chr8:85435071-85435072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140016338	chr8:85435097-85435098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370941128	chr8:85435170-85435171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534301724	chr8:85435187-85435188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200254298	chr8:85435204-85435205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550932021	chr8:85435228-85435229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567901097	chr8:85435244-85435245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4740021	chr8:85435344-85435345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546951611	chr8:85435345-85435346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143621058	chr8:85435350-85435351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368726618	chr8:85435355-85435356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192913249	chr8:85435384-85435385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34765938	chr8:85435390-85435391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184794031	chr8:85435437-85435438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10453097	chr8:85435444-85435445	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537469421	chr8:85435475-85435476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139204720	chr8:85435476-85435477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377430122	chr8:85435505-85435506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149918356	chr8:85435520-85435521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561447278	chr8:85435532-85435533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534114785	chr8:85435559-85435560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534837888	chr8:85435584-85435585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554062228	chr8:85435593-85435594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577119333	chr8:85435601-85435602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552855935	chr8:85435628-85435629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560948194	chr8:85435641-85435642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565408005	chr8:85435662-85435663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536043644	chr8:85435683-85435684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575678927	chr8:85435692-85435693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180805810	chr8:85435710-85435711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28751114	chr8:85435717-85435718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529999228	chr8:85435752-85435753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571549591	chr8:85435754-85435755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183894351	chr8:85435762-85435763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1153027	chr8:85435804-85435805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560406660	chr8:85435817-85435818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1153026	chr8:85435889-85435890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570057276	chr8:85435894-85435895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556126654	chr8:85435901-85435902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1153025	chr8:85435915-85435916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1681342	chr8:85435935-85435936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85434800-85447400	Weak transcription	Pancreas	Pancrea
2	chr8:85435400-85435600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:85436200-85461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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