Variant report

Variant	esv3360874
Chromosome Location	chr12:87441921-87445819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372183528	chr12:87441979-87441980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527467703	chr12:87442003-87442004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560902697	chr12:87442028-87442029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73179847	chr12:87442050-87442051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2117014	chr12:87442077-87442078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536548689	chr12:87442080-87442081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192044278	chr12:87442128-87442129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73179849	chr12:87442140-87442141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs67755243	chr12:87442197-87442198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183326878	chr12:87442215-87442216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572607334	chr12:87442238-87442239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66543122	chr12:87442243-87442244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35703307	chr12:87442385-87442386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75052213	chr12:87442394-87442395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79691917	chr12:87442427-87442428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574986562	chr12:87442438-87442439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11104251	chr12:87442480-87442481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541462882	chr12:87442510-87442511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs68030146	chr12:87442537-87442538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116004581	chr12:87442583-87442584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544638850	chr12:87442584-87442585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140700404	chr12:87442596-87442597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150095210	chr12:87442622-87442623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138636008	chr12:87442735-87442736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567460935	chr12:87442758-87442759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187663115	chr12:87442770-87442771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536262595	chr12:87442771-87442772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527623173	chr12:87442779-87442780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550074484	chr12:87442808-87442809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149327866	chr12:87442824-87442825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539021316	chr12:87442825-87442826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566177109	chr12:87442912-87442913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192152835	chr12:87442958-87442959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549367698	chr12:87442993-87442994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2897503	chr12:87443020-87443021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574998920	chr12:87443026-87443027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373290084	chr12:87443037-87443038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538824832	chr12:87443047-87443048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146976006	chr12:87443088-87443089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138117992	chr12:87443139-87443140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577157207	chr12:87443145-87443146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544600050	chr12:87443198-87443199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564540913	chr12:87443220-87443221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527352204	chr12:87443237-87443238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182694933	chr12:87443264-87443265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560894876	chr12:87443328-87443329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529879148	chr12:87443334-87443335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187825077	chr12:87443360-87443361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113824530	chr12:87443366-87443367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115321033	chr12:87443390-87443391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87441800-87442000	Enhancers	Fetal Brain Male	brain
2	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain
3	chr12:87445000-87445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:87445200-87446200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:87445400-87445800	Enhancers	A549	lung

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