Variant report

Variant	esv3443584
Chromosome Location	chr8:113537076-113539249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:113536029..113539003-chr8:113540588..113542968,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550660921	chr8:113537083-113537084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567379660	chr8:113537094-113537095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529463314	chr8:113537160-113537161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549310563	chr8:113537172-113537173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372047026	chr8:113537222-113537223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145913880	chr8:113537242-113537243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534993161	chr8:113537282-113537283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552071329	chr8:113537284-113537285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10112964	chr8:113537304-113537305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs183318878	chr8:113537379-113537380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556986860	chr8:113537391-113537392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573791776	chr8:113537422-113537423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547517111	chr8:113537450-113537451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536386152	chr8:113537464-113537465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547154171	chr8:113537480-113537481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573021881	chr8:113537501-113537502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544948105	chr8:113537504-113537505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371702378	chr8:113537543-113537544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565200430	chr8:113537591-113537592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34737059	chr8:113537671-113537672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544230862	chr8:113537697-113537698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560914017	chr8:113537720-113537721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529807085	chr8:113537777-113537778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187878654	chr8:113537811-113537812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372367754	chr8:113537866-113537867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192221473	chr8:113537867-113537868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113091691	chr8:113537895-113537896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376586137	chr8:113537913-113537914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571608863	chr8:113537928-113537929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553559009	chr8:113537980-113537981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537393172	chr8:113537997-113537998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577823125	chr8:113538005-113538006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369632779	chr8:113538015-113538016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544818226	chr8:113538018-113538019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58408783	chr8:113538020-113538021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563394357	chr8:113538025-113538026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56372113	chr8:113538038-113538039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56383800	chr8:113538046-113538047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200958191	chr8:113538050-113538051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199728652	chr8:113538057-113538058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192481471	chr8:113538059-113538060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536327116	chr8:113538100-113538101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553453777	chr8:113538144-113538145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575164866	chr8:113538156-113538157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572916998	chr8:113538172-113538173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538837079	chr8:113538242-113538243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558846236	chr8:113538296-113538297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575608233	chr8:113538379-113538380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185384679	chr8:113538419-113538420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138475545	chr8:113538453-113538454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113525200-113542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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