Variant report

Variant	nsv520681
Chromosome Location	chr16:76026681-76055486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1519 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1391408	chr16:76026681-76026682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568716438	chr16:76026694-76026695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372228248	chr16:76026710-76026711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536698098	chr16:76026719-76026720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559648808	chr16:76026729-76026730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536167303	chr16:76026750-76026751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528758120	chr16:76026793-76026794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551793159	chr16:76026806-76026807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550153784	chr16:76026808-76026809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530891413	chr16:76026827-76026828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550820082	chr16:76026838-76026839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181926588	chr16:76026849-76026850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143705016	chr16:76026853-76026854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549174743	chr16:76026930-76026931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535826921	chr16:76026933-76026934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377292078	chr16:76026940-76026941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556894618	chr16:76027010-76027011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534603524	chr16:76027017-76027018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557991323	chr16:76027064-76027065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146771615	chr16:76027065-76027066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115378491	chr16:76027069-76027070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370008901	chr16:76027074-76027075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536475312	chr16:76027093-76027094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556674071	chr16:76027099-76027100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573380395	chr16:76027101-76027102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542860437	chr16:76027128-76027129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4888463	chr16:76027137-76027138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76796439	chr16:76027138-76027139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144470902	chr16:76027213-76027214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530828305	chr16:76027285-76027286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151125677	chr16:76027305-76027306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60540929	chr16:76027307-76027308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530212583	chr16:76027332-76027333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539096718	chr16:76027333-76027334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184975562	chr16:76027354-76027355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1391407	chr16:76027359-76027360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191045880	chr16:76027388-76027389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182809416	chr16:76027427-76027428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11864741	chr16:76027450-76027451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188428897	chr16:76027497-76027498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11861913	chr16:76027503-76027504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1391406	chr16:76027508-76027509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141031819	chr16:76027544-76027545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150257139	chr16:76027566-76027567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575371042	chr16:76027580-76027581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191568201	chr16:76027582-76027583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565476907	chr16:76027591-76027592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375383601	chr16:76027609-76027610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11861949	chr16:76027646-76027647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370527910	chr16:76027673-76027674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76029400-76030600	Enhancers	Brain Germinal Matrix	brain
3	chr16:76029400-76032800	Enhancers	HMEC	breast
4	chr16:76029600-76032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:76032400-76049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:76035600-76035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:76037600-76038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:76039200-76039400	Enhancers	Brain Substantia Nigra	brain
9	chr16:76043200-76043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:76049200-76051400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:76051400-76055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:76055200-76056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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