Variant report

Variant	esv3346889
Chromosome Location	chr12:75749985-75753683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191766738	chr12:75750052-75750053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537905898	chr12:75750081-75750082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571842193	chr12:75750104-75750105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551913393	chr12:75750113-75750114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550976372	chr12:75750124-75750125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567788367	chr12:75750141-75750142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114680864	chr12:75750169-75750170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548920509	chr12:75750199-75750200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565826999	chr12:75750234-75750235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183981025	chr12:75750244-75750245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558073986	chr12:75750255-75750256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537269127	chr12:75750277-75750278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571430499	chr12:75750331-75750332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556513628	chr12:75750332-75750333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533998864	chr12:75750348-75750349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115610272	chr12:75750378-75750379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142531934	chr12:75750397-75750398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368008507	chr12:75750423-75750424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7979548	chr12:75750513-75750514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573836167	chr12:75750585-75750586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573428386	chr12:75750680-75750681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76049687	chr12:75750700-75750701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565602598	chr12:75750701-75750702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531206026	chr12:75750725-75750726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551015514	chr12:75750754-75750755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188741689	chr12:75750904-75750905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556737300	chr12:75750968-75750969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530226762	chr12:75751009-75751010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547119519	chr12:75751050-75751051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566843780	chr12:75751094-75751095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534853377	chr12:75751164-75751165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146032455	chr12:75751189-75751190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139965645	chr12:75751319-75751320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536915927	chr12:75751355-75751356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556550515	chr12:75751385-75751386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191321188	chr12:75751419-75751420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555881868	chr12:75751487-75751488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374032291	chr12:75751495-75751496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112452345	chr12:75751536-75751537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151136602	chr12:75751651-75751652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572833436	chr12:75751754-75751755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575994406	chr12:75751767-75751768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545609783	chr12:75751829-75751830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11180473	chr12:75751880-75751881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs139111529	chr12:75751899-75751900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149908730	chr12:75751910-75751911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550526585	chr12:75751921-75751922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552390204	chr12:75751966-75751967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55856546	chr12:75752046-75752047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530159142	chr12:75752078-75752079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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