Variant report

Variant	nsv521196
Chromosome Location	chr16:76021100-76055486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1793 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1793 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9926707	chr16:76021100-76021101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73622404	chr16:76021135-76021136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73622408	chr16:76021153-76021154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567634224	chr16:76021169-76021170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372621150	chr16:76021174-76021175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149143374	chr16:76021193-76021194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566003741	chr16:76021204-76021205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143387132	chr16:76021207-76021208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557710554	chr16:76021373-76021374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536896692	chr16:76021384-76021385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376604097	chr16:76021417-76021418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537141258	chr16:76021439-76021440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184126033	chr16:76021442-76021443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139032222	chr16:76021449-76021450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541632863	chr16:76021463-76021464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562032166	chr16:76021472-76021473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572354593	chr16:76021486-76021487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8055817	chr16:76021509-76021510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539290329	chr16:76021510-76021511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34159449	chr16:76021515-76021516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575424321	chr16:76021520-76021521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8057050	chr16:76021533-76021534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115517801	chr16:76021536-76021537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8057728	chr16:76021569-76021570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376150537	chr16:76021591-76021592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186462512	chr16:76021601-76021602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549273969	chr16:76021618-76021619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566061905	chr16:76021623-76021624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145836513	chr16:76021637-76021638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551405628	chr16:76021639-76021640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571319552	chr16:76021652-76021653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138418771	chr16:76021674-76021675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141177225	chr16:76021693-76021694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8057412	chr16:76021698-76021699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554697512	chr16:76021740-76021741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373300898	chr16:76021753-76021754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72791354	chr16:76021758-76021759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541324022	chr16:76021779-76021780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11866280	chr16:76021788-76021789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150750786	chr16:76021796-76021797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543020542	chr16:76021814-76021815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76486899	chr16:76021821-76021822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137868656	chr16:76021824-76021825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563097259	chr16:76021875-76021876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36049809	chr16:76021878-76021879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559512873	chr16:76021881-76021882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191307932	chr16:76021888-76021889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571862381	chr16:76021894-76021895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149466358	chr16:76021917-76021918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111351917	chr16:76021957-76021958	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: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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