Variant report

Variant	nsv519670
Chromosome Location	chr16:74157456-74162551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6564941	chr16:74157456-74157457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572734164	chr16:74157515-74157516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181191625	chr16:74157531-74157532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560155742	chr16:74157667-74157668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12917948	chr16:74157772-74157773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545510370	chr16:74157801-74157802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185441613	chr16:74157826-74157827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116387392	chr16:74157827-74157828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569338103	chr16:74157904-74157905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531313989	chr16:74157925-74157926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188242345	chr16:74157976-74157977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548316982	chr16:74157989-74157990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569635994	chr16:74158027-74158028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541323624	chr16:74158042-74158043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373679648	chr16:74158058-74158059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538669920	chr16:74158117-74158118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552201413	chr16:74158130-74158131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565634798	chr16:74158142-74158143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182064027	chr16:74158185-74158186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187385011	chr16:74158190-74158191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150779646	chr16:74158193-74158194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539815356	chr16:74158265-74158266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555137350	chr16:74158283-74158284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139303342	chr16:74158342-74158343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368096165	chr16:74158351-74158352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369744599	chr16:74158353-74158354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549946329	chr16:74158374-74158375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191823171	chr16:74158395-74158396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535583161	chr16:74158419-74158420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535349913	chr16:74158420-74158421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11645227	chr16:74158449-74158450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535266921	chr16:74158455-74158456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534894538	chr16:74158538-74158539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548425401	chr16:74158539-74158540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568464805	chr16:74158563-74158564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558469569	chr16:74158564-74158565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534471870	chr16:74158634-74158635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552938573	chr16:74158636-74158637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183733629	chr16:74158637-74158638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562346800	chr16:74158641-74158642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186634488	chr16:74158726-74158727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541575274	chr16:74158747-74158748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557942304	chr16:74158807-74158808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146520145	chr16:74158838-74158839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577993670	chr16:74158875-74158876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149807090	chr16:74158975-74158976	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74157200-74159000	Enhancers	HMEC	breast
2	chr16:74157600-74158400	Enhancers	NHEK	skin

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