Variant report

Variant	esv3363152
Chromosome Location	chr3:161916858-161921356
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	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
2	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76508091	chr3:161916877-161916878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371879119	chr3:161916888-161916889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184707305	chr3:161916890-161916891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555531335	chr3:161916899-161916900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529953426	chr3:161916945-161916946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187338236	chr3:161916990-161916991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561856657	chr3:161917014-161917015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2971445	chr3:161917084-161917085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574087063	chr3:161917109-161917110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563166524	chr3:161917169-161917170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192063478	chr3:161917180-161917181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541192528	chr3:161917203-161917204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565829556	chr3:161917204-161917205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184663648	chr3:161917303-161917304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548295003	chr3:161917306-161917307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553226261	chr3:161917307-161917308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537361693	chr3:161917318-161917319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557609504	chr3:161917351-161917352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571089026	chr3:161917363-161917364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144443195	chr3:161917393-161917394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9871568	chr3:161917394-161917395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572171842	chr3:161917424-161917425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113736343	chr3:161917425-161917426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75822371	chr3:161917439-161917440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75884098	chr3:161917451-161917452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76827202	chr3:161917454-161917455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574345417	chr3:161917457-161917458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545188889	chr3:161917464-161917465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9871741	chr3:161917466-161917467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147178252	chr3:161917480-161917481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9816327	chr3:161917484-161917485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576670984	chr3:161917491-161917492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545592745	chr3:161917494-161917495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9871757	chr3:161917500-161917501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143409904	chr3:161917503-161917504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9816338	chr3:161917504-161917505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530418687	chr3:161917514-161917515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9816347	chr3:161917532-161917533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9833891	chr3:161917541-161917542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528587056	chr3:161917557-161917558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28595657	chr3:161917574-161917575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556921222	chr3:161917584-161917585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9872162	chr3:161917594-161917595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189126189	chr3:161917596-161917597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200524240	chr3:161917602-161917603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200419844	chr3:161917606-161917607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201712704	chr3:161917608-161917609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564389156	chr3:161917610-161917611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561966680	chr3:161917611-161917612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530916421	chr3:161917615-161917616	Weak transcription	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
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:161918400-161920800	Weak transcription	NHDF-Ad	bronchial
3	chr3:161918600-161919200	Enhancers	Fetal Lung	lung
4	chr3:161919000-161919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:161920400-161921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:161920600-161921600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:161920600-161921800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:161920800-161921200	Enhancers	NHDF-Ad	bronchial
9	chr3:161920800-161921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:161921200-161929000	Weak transcription	NHDF-Ad	bronchial

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