Variant report

Variant	nsv511564
Chromosome Location	chr16:77081389-77093511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569075636	chr16:77082007-77082008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76403643	chr16:77082037-77082038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554799168	chr16:77082070-77082071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562212140	chr16:77082084-77082085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555241714	chr16:77082119-77082120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574361235	chr16:77082125-77082126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35355893	chr16:77082150-77082151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17768587	chr16:77082170-77082171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553483866	chr16:77082192-77082193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537832340	chr16:77082198-77082199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181460370	chr16:77082249-77082250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184816786	chr16:77082286-77082287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115872215	chr16:77082302-77082303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62046960	chr16:77082327-77082328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571816258	chr16:77082369-77082370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190242592	chr16:77082422-77082423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542148411	chr16:77082439-77082440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561922563	chr16:77082457-77082458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527581730	chr16:77082458-77082459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547001480	chr16:77082459-77082460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4888589	chr16:77082461-77082462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114064876	chr16:77082462-77082463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180993675	chr16:77082482-77082483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569114418	chr16:77082486-77082487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4888590	chr16:77082533-77082534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374855256	chr16:77082559-77082560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565973917	chr16:77082585-77082586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375084713	chr16:77091221-77091222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149369933	chr16:77091249-77091250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559663127	chr16:77091254-77091255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568555474	chr16:77091262-77091263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183215541	chr16:77091277-77091278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77933502	chr16:77091282-77091283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532772115	chr16:77091286-77091287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147057913	chr16:77091421-77091422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138322064	chr16:77091428-77091429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188178655	chr16:77091441-77091442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368198934	chr16:77091450-77091451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537954144	chr16:77091459-77091460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1564928	chr16:77091472-77091473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574579227	chr16:77091496-77091497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574350739	chr16:77091508-77091509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540459949	chr16:77091519-77091520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374754418	chr16:77091587-77091588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9928199	chr16:77091611-77091612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568132999	chr16:77091625-77091626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192975926	chr16:77091627-77091628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74025454	chr16:77091631-77091632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530773959	chr16:77091663-77091664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530533128	chr16:77091668-77091669	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77082000-77082600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:77091200-77097800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr16:77092800-77094800	Enhancers	Fetal Lung	lung
4	chr16:77093000-77093800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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