Variant report

Variant	nsv519616
Chromosome Location	chr16:80032531-80035732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80027255..80029834-chr16:80031409..80034073,2	K562	blood:
2	chr16:80032529..80034163-chr16:80057052..80059822,2	MCF-7	breast:
3	chr16:80028844..80032555-chr16:80035015..80037788,3	K562	blood:
4	chr16:80024905..80027740-chr16:80034921..80036851,2	K562	blood:
5	chr16:80028844..80032555-chr16:80035015..80037788,3	K562	blood:
6	chr16:80034329..80036215-chr16:80037555..80039498,2	K562	blood:
7	chr16:80034560..80036245-chr16:80037115..80039507,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4888064	chr16:80032531-80032532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549047092	chr16:80032535-80032536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561509593	chr16:80032546-80032547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191450275	chr16:80032559-80032560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182152219	chr16:80032572-80032573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150519238	chr16:80032594-80032595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139458647	chr16:80032625-80032626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77828905	chr16:80032681-80032682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566046151	chr16:80032692-80032693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536383578	chr16:80032698-80032699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62042322	chr16:80032708-80032709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116521347	chr16:80032713-80032714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537608582	chr16:80032732-80032733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556054062	chr16:80032735-80032736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188894131	chr16:80032738-80032739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79869383	chr16:80032753-80032754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559927747	chr16:80032767-80032768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16951965	chr16:80032793-80032794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542794181	chr16:80032834-80032835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143319809	chr16:80032884-80032885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77788583	chr16:80032913-80032914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193225903	chr16:80032915-80032916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536352355	chr16:80032920-80032921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370628122	chr16:80032936-80032937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139708593	chr16:80032953-80032954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565455458	chr16:80032957-80032958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532726114	chr16:80032962-80032963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34996175	chr16:80032983-80032984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59544394	chr16:80032984-80032985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397773779	chr16:80033000-80033001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144368865	chr16:80033014-80033015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4889065	chr16:80033023-80033024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536600766	chr16:80033027-80033028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367988558	chr16:80033043-80033044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145420230	chr16:80033046-80033047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368546209	chr16:80033068-80033069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537672647	chr16:80033088-80033089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555969064	chr16:80033105-80033106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149226407	chr16:80033172-80033173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142447763	chr16:80033177-80033178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113035207	chr16:80033180-80033181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185234360	chr16:80033183-80033184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151258144	chr16:80033188-80033189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141537578	chr16:80033195-80033196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190077860	chr16:80033201-80033202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565500882	chr16:80033211-80033212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192712996	chr16:80033228-80033229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543526083	chr16:80033268-80033269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565376194	chr16:80033273-80033274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8053286	chr16:80033279-80033280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80028200-80040000	Weak transcription	Placenta Amnion	Placenta Amnion

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