Variant report

Variant	esv3368613
Chromosome Location	chr16:80444151-80445999
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: 109 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531655673	chr16:80444162-80444163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529872169	chr16:80444193-80444194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371282506	chr16:80444239-80444240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185715512	chr16:80444256-80444257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563238841	chr16:80444265-80444266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550731315	chr16:80444285-80444286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1484029	chr16:80444331-80444332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34567764	chr16:80444346-80444347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551974824	chr16:80444355-80444356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190139264	chr16:80444375-80444376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534296691	chr16:80444395-80444396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546910853	chr16:80444416-80444417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182914644	chr16:80444459-80444460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187710762	chr16:80444464-80444465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8045305	chr16:80444487-80444488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144203309	chr16:80444504-80444505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575747596	chr16:80444520-80444521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146534482	chr16:80444547-80444548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34053649	chr16:80444611-80444612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573306061	chr16:80444617-80444618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540606714	chr16:80444660-80444661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11639506	chr16:80444668-80444669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141318307	chr16:80444684-80444685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149797347	chr16:80444694-80444695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559317491	chr16:80444707-80444708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75483359	chr16:80444717-80444718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192639402	chr16:80444727-80444728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375030736	chr16:80444734-80444735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545521246	chr16:80444770-80444771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184084462	chr16:80444771-80444772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149081489	chr16:80444776-80444777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187726209	chr16:80444785-80444786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568664313	chr16:80444789-80444790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192122572	chr16:80444793-80444794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550983481	chr16:80444853-80444854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372372127	chr16:80444855-80444856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374985762	chr16:80444864-80444865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58027301	chr16:80444869-80444870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368005155	chr16:80444871-80444872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28435610	chr16:80444877-80444878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76286282	chr16:80444878-80444879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200141540	chr16:80444879-80444880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372038117	chr16:80444886-80444887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377144463	chr16:80444888-80444889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62050391	chr16:80444900-80444901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201815032	chr16:80444910-80444911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374230410	chr16:80444917-80444918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368267411	chr16:80444924-80444925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200999274	chr16:80444933-80444934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28548755	chr16:80444947-80444948	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80442000-80444200	Enhancers	HepG2	liver
2	chr16:80444200-80447800	Weak transcription	HepG2	liver

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