Variant report

Variant	nsv979792
Chromosome Location	chr3:161775568-161780695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370729171	chr3:161777013-161777014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570945189	chr3:161777023-161777024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533520978	chr3:161777026-161777027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567223696	chr3:161777031-161777032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77166149	chr3:161777034-161777035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs13090130	chr3:161777035-161777036	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34640718	chr3:161777049-161777050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114359719	chr3:161777050-161777051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576183907	chr3:161777062-161777063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs137911461	chr3:161777075-161777076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs13090291	chr3:161777076-161777077	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1119974	chr3:161777136-161777137	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1119975	chr3:161777151-161777152	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1119976	chr3:161777167-161777168	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565288563	chr3:161777244-161777245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141660904	chr3:161777250-161777251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs180702375	chr3:161777259-161777260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184504957	chr3:161777269-161777270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62278898	chr3:161777345-161777346	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551088401	chr3:161777399-161777400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150533646	chr3:161777412-161777413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527353266	chr3:161777427-161777428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547088307	chr3:161777442-161777443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557367282	chr3:161777444-161777445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115829974	chr3:161777449-161777450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536200875	chr3:161777450-161777451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556416955	chr3:161777482-161777483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569903391	chr3:161777499-161777500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569614928	chr3:161777501-161777502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1119977	chr3:161777508-161777509	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538219444	chr3:161777529-161777530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs75340801	chr3:161777577-161777578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161777000-161777600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:161777200-161777600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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