Variant report

Variant	nsv966967
Chromosome Location	chr3:162176029-162202876
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	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531138294	chr3:162176211-162176212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550946638	chr3:162176222-162176223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74742200	chr3:162176303-162176304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539439499	chr3:162176331-162176332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs9882455	chr3:162176345-162176346	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566606150	chr3:162176350-162176351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572829729	chr3:162177428-162177429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146614828	chr3:162177436-162177437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141423165	chr3:162177438-162177439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575329421	chr3:162177454-162177455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544455652	chr3:162177492-162177493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143938770	chr3:162177494-162177495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146652217	chr3:162177538-162177539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552923968	chr3:162177557-162177558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559816725	chr3:162177595-162177596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560418981	chr3:162177672-162177673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146011160	chr3:162177675-162177676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367622432	chr3:162177694-162177695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76916055	chr3:162177711-162177712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115346378	chr3:162177724-162177725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540508525	chr3:162177726-162177727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7618873	chr3:162177730-162177731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531862896	chr3:162177756-162177757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182254809	chr3:162177896-162177897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551598074	chr3:162177921-162177922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140094009	chr3:162177948-162177949	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea
2	chr3:162177400-162177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:162177600-162178000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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