Variant report

Variant	esv3385525
Chromosome Location	chr16:80168065-80170628
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	chr16:80164328..80166827-chr16:80167258..80169658,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185508492	chr16:80168603-80168604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545624538	chr16:80168618-80168619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565322798	chr16:80168663-80168664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542752813	chr16:80168699-80168700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142650120	chr16:80168702-80168703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28689188	chr16:80168713-80168714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536902151	chr16:80168718-80168719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373317860	chr16:80168723-80168724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2219777	chr16:80168770-80168771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561524275	chr16:80168777-80168778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112196539	chr16:80168869-80168870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28806170	chr16:80168872-80168873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1382385	chr16:80168932-80168933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527236291	chr16:80168947-80168948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28645719	chr16:80168989-80168990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115881072	chr16:80169033-80169034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187483283	chr16:80169035-80169036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73589945	chr16:80169050-80169051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572006010	chr16:80169063-80169064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539332370	chr16:80169078-80169079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191991888	chr16:80169141-80169142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550195547	chr16:80169236-80169237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571447554	chr16:80169251-80169252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184062921	chr16:80169256-80169257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73589947	chr16:80169292-80169293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146895518	chr16:80169295-80169296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554783455	chr16:80169375-80169376	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80168600-80169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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