Variant report

Variant	nsv1062705
Chromosome Location	chr16:76019664-76056534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1953 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9933321	chr16:76019664-76019665	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577598943	chr16:76019666-76019667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115867331	chr16:76019675-76019676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562868056	chr16:76019687-76019688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192977918	chr16:76019693-76019694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569829871	chr16:76019701-76019702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138934634	chr16:76019749-76019750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529869964	chr16:76019752-76019753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370741777	chr16:76019760-76019761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374058973	chr16:76019781-76019782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7185108	chr16:76019786-76019787	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371287908	chr16:76019788-76019789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538522439	chr16:76019800-76019801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551800674	chr16:76019822-76019823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568502126	chr16:76019836-76019837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142181548	chr16:76019845-76019846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78323934	chr16:76019852-76019853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376630458	chr16:76019864-76019865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534164142	chr16:76019879-76019880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185685769	chr16:76019886-76019887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74250925	chr16:76019898-76019899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577660264	chr16:76019935-76019936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368410980	chr16:76019939-76019940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563136084	chr16:76019959-76019960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190508384	chr16:76019970-76019971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs180840415	chr16:76020022-76020023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546700088	chr16:76020040-76020041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542178593	chr16:76020045-76020046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377008934	chr16:76020058-76020059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562056258	chr16:76020065-76020066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527769270	chr16:76020066-76020067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546416769	chr16:76020069-76020070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571418391	chr16:76020070-76020071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533986093	chr16:76020096-76020097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7187908	chr16:76020121-76020122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377057416	chr16:76020139-76020140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111440535	chr16:76020154-76020155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552059779	chr16:76020160-76020161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569084621	chr16:76020196-76020197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531226339	chr16:76020243-76020244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548156420	chr16:76020274-76020275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74807853	chr16:76020278-76020279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144419831	chr16:76020290-76020291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536432202	chr16:76020301-76020302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185825062	chr16:76020306-76020307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571066618	chr16:76020334-76020335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556842233	chr16:76020364-76020365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548959878	chr16:76020415-76020416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377651124	chr16:76020416-76020417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs118011311	chr16:76020417-76020418	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76019600-76020000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:76029400-76030600	Enhancers	Brain Germinal Matrix	brain
4	chr16:76029400-76032800	Enhancers	HMEC	breast
5	chr16:76029600-76032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:76032400-76049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:76035600-76035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:76037600-76038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:76039200-76039400	Enhancers	Brain Substantia Nigra	brain
10	chr16:76043200-76043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:76049200-76051400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:76051400-76055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:76055200-76056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:76055600-76055800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:76055800-76057400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:76056400-76057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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