Variant report

Variant	nsv559683
Chromosome Location	chr12:86431620-86432115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 63 )

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	rs552685149	chr12:86431628-86431629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370301346	chr12:86431654-86431655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs61931121	chr12:86431666-86431667	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147141242	chr12:86431667-86431668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371305748	chr12:86431677-86431678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7305379	chr12:86431706-86431707	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535606754	chr12:86431732-86431733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556870037	chr12:86431746-86431747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180743914	chr12:86431747-86431748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539140534	chr12:86431755-86431756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186332837	chr12:86431786-86431787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140268627	chr12:86431791-86431792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528449878	chr12:86431798-86431799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144325886	chr12:86431809-86431810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377393122	chr12:86431908-86431909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145505578	chr12:86431909-86431910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542549542	chr12:86431914-86431915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370440971	chr12:86431921-86431922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148884781	chr12:86431960-86431961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531160165	chr12:86431988-86431989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546913151	chr12:86432024-86432025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189169795	chr12:86432051-86432052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564584457	chr12:86432063-86432064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142615826	chr12:86432064-86432065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563044227	chr12:86432068-86432069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10863150	chr12:86432115-86432116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
Malignant peripheral nerve sheath tumor	18522746	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86430800-86433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86431600-86431800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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