Variant report

Variant	esv3516735
Chromosome Location	chr3:158971378-158973215
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	chr3:158547228..158549702-chr3:158970117..158972247,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553502964	chr3:158971383-158971384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186702062	chr3:158971387-158971388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61795194	chr3:158971396-158971397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72144224	chr3:158971400-158971401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62892760	chr3:158971403-158971404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9846972	chr3:158971412-158971413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200395439	chr3:158971418-158971419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556148011	chr3:158971419-158971420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71144479	chr3:158971420-158971421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58759279	chr3:158971422-158971423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59076814	chr3:158971425-158971426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115885740	chr3:158971426-158971427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573594402	chr3:158971454-158971455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570752623	chr3:158971470-158971471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147821685	chr3:158971539-158971540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553586457	chr3:158971553-158971554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568670599	chr3:158971586-158971587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7644770	chr3:158971587-158971588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557102167	chr3:158971594-158971595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140230668	chr3:158971684-158971685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73031435	chr3:158971748-158971749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2044704	chr3:158971805-158971806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150317561	chr3:158971824-158971825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573569291	chr3:158971851-158971852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137926542	chr3:158971899-158971900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551793160	chr3:158971943-158971944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571548415	chr3:158971944-158971945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544173226	chr3:158971990-158971991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191116993	chr3:158972031-158972032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543394409	chr3:158972082-158972083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149447919	chr3:158972111-158972112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145166044	chr3:158972129-158972130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566234888	chr3:158972139-158972140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559078478	chr3:158972148-158972149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115293489	chr3:158972164-158972165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528956957	chr3:158972185-158972186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546896291	chr3:158972194-158972195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73031437	chr3:158972207-158972208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114184049	chr3:158972218-158972219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557379966	chr3:158972235-158972236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569319132	chr3:158972275-158972276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577453523	chr3:158972322-158972323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539842557	chr3:158972328-158972329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138989873	chr3:158972329-158972330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142238757	chr3:158972335-158972336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2595237	chr3:158972368-158972369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527795175	chr3:158972429-158972430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564459949	chr3:158972440-158972441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185564604	chr3:158972488-158972489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76383566	chr3:158972557-158972558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158968600-158972000	Enhancers	Osteobl	bone
2	chr3:158969000-158971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:158970600-158972000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:158970600-158972200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:158971200-158972200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158971400-158971800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:158971600-158972000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:158972200-158977800	Weak transcription	Muscle Satellite Cultured Cells	--

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