Variant report

Variant	esv3351916
Chromosome Location	chr16:80444809-80445501
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	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550983481	chr16:80444853-80444854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372372127	chr16:80444855-80444856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374985762	chr16:80444864-80444865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58027301	chr16:80444869-80444870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368005155	chr16:80444871-80444872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28435610	chr16:80444877-80444878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76286282	chr16:80444878-80444879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200141540	chr16:80444879-80444880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372038117	chr16:80444886-80444887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377144463	chr16:80444888-80444889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62050391	chr16:80444900-80444901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201815032	chr16:80444910-80444911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374230410	chr16:80444917-80444918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368267411	chr16:80444924-80444925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200999274	chr16:80444933-80444934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28548755	chr16:80444947-80444948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369294341	chr16:80444949-80444950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369779806	chr16:80444951-80444952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28410375	chr16:80444953-80444954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563828455	chr16:80444954-80444955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372273802	chr16:80444955-80444956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375741521	chr16:80444958-80444959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369167775	chr16:80444962-80444963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201745428	chr16:80444968-80444969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113396816	chr16:80444970-80444971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200781092	chr16:80444971-80444972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28592785	chr16:80444985-80444986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371389689	chr16:80444996-80444997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11644552	chr16:80445006-80445007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532853457	chr16:80445007-80445008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28613591	chr16:80445013-80445014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552576440	chr16:80445067-80445068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184168621	chr16:80445128-80445129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141397455	chr16:80445146-80445147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367634121	chr16:80445194-80445195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79624344	chr16:80445222-80445223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566938314	chr16:80445233-80445234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66836864	chr16:80445234-80445235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528471444	chr16:80445257-80445258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146941926	chr16:80445281-80445282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188624141	chr16:80445295-80445296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200006150	chr16:80445309-80445310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137907127	chr16:80445335-80445336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556951538	chr16:80445346-80445347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575418118	chr16:80445359-80445360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556759772	chr16:80445387-80445388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191530719	chr16:80445396-80445397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184810902	chr16:80445408-80445409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17814123	chr16:80445424-80445425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561765140	chr16:80445449-80445450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80444200-80447800	Weak transcription	HepG2	liver

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