Variant report

Variant	nsv1062910
Chromosome Location	chr16:76019214-76054016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1816 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141974423	chr16:76019214-76019215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569410916	chr16:76019243-76019244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77425880	chr16:76019270-76019271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550800560	chr16:76019319-76019320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78594816	chr16:76019321-76019322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544996777	chr16:76019336-76019337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536406801	chr16:76019337-76019338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183989853	chr16:76019341-76019342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150277399	chr16:76019422-76019423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368973766	chr16:76019436-76019437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7191424	chr16:76019450-76019451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527369263	chr16:76019528-76019529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111511328	chr16:76019532-76019533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34461522	chr16:76019542-76019543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575021672	chr16:76019550-76019551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7184868	chr16:76019587-76019588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7186240	chr16:76019590-76019591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574941289	chr16:76019615-76019616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188769903	chr16:76019644-76019645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550013496	chr16:76019658-76019659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9933321	chr16:76019664-76019665	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs577598943	chr16:76019666-76019667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115867331	chr16:76019675-76019676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562868056	chr16:76019687-76019688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192977918	chr16:76019693-76019694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569829871	chr16:76019701-76019702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138934634	chr16:76019749-76019750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529869964	chr16:76019752-76019753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370741777	chr16:76019760-76019761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374058973	chr16:76019781-76019782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7185108	chr16:76019786-76019787	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371287908	chr16:76019788-76019789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538522439	chr16:76019800-76019801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551800674	chr16:76019822-76019823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568502126	chr16:76019836-76019837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142181548	chr16:76019845-76019846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78323934	chr16:76019852-76019853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376630458	chr16:76019864-76019865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534164142	chr16:76019879-76019880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185685769	chr16:76019886-76019887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs74250925	chr16:76019898-76019899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577660264	chr16:76019935-76019936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368410980	chr16:76019939-76019940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563136084	chr16:76019959-76019960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190508384	chr16:76019970-76019971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs180840415	chr16:76020022-76020023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546700088	chr16:76020040-76020041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542178593	chr16:76020045-76020046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377008934	chr16:76020058-76020059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562056258	chr16:76020065-76020066	Weak transcription	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	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76019600-76020000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:76029400-76030600	Enhancers	Brain Germinal Matrix	brain
5	chr16:76029400-76032800	Enhancers	HMEC	breast
6	chr16:76029600-76032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:76032400-76049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:76035600-76035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:76037600-76038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:76039200-76039400	Enhancers	Brain Substantia Nigra	brain
11	chr16:76043200-76043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:76049200-76051400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:76051400-76055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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