Variant report

Variant	esv3367740
Chromosome Location	chr16:71980542-71981287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76326564	chr16:71980628-71980629	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575359196	chr16:71980652-71980653	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542935351	chr16:71980666-71980667	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557517136	chr16:71980703-71980704	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375642756	chr16:71980728-71980729	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138842466	chr16:71980729-71980730	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561201635	chr16:71980737-71980738	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200143651	chr16:71980741-71980742	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112585405	chr16:71980742-71980743	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368345443	chr16:71980754-71980755	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372611220	chr16:71980756-71980757	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369578722	chr16:71980759-71980760	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376311356	chr16:71980766-71980767	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201283464	chr16:71980767-71980768	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374183754	chr16:71980771-71980772	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113087174	chr16:71980779-71980780	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112515339	chr16:71980791-71980792	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113488740	chr16:71980792-71980793	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371556046	chr16:71980804-71980805	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375046234	chr16:71980810-71980811	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368312951	chr16:71980815-71980816	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144565044	chr16:71980874-71980875	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139740479	chr16:71980897-71980898	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186483785	chr16:71980937-71980938	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145320532	chr16:71980961-71980962	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111250940	chr16:71980964-71980965	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533417019	chr16:71980976-71980977	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551506285	chr16:71980985-71980986	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569703608	chr16:71980987-71980988	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9673858	chr16:71980991-71980992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs8048088	chr16:71981011-71981012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549242532	chr16:71981054-71981055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142273979	chr16:71981057-71981058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374370575	chr16:71981059-71981060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559476140	chr16:71981075-71981076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2878492	chr16:71981113-71981114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571754552	chr16:71981121-71981122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538726683	chr16:71981135-71981136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112221759	chr16:71981173-71981174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557134511	chr16:71981183-71981184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575297306	chr16:71981192-71981193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2878491	chr16:71981218-71981219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554620292	chr16:71981222-71981223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151266833	chr16:71981237-71981238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111636613	chr16:71981240-71981241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540159605	chr16:71981246-71981247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565086691	chr16:71981285-71981286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71969800-71980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:71979800-71980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71980600-71980800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr16:71980600-71981000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:71980800-71981000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:71980800-71982000	Enhancers	HepG2	liver
10	chr16:71981200-71981400	Enhancers	H9 Cell Line	embryonic stem cell

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