Variant report

Variant	esv3323875
Chromosome Location	chr12:87708971-87710119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555078006	chr12:87708995-87708996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73196352	chr12:87708996-87708997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544417938	chr12:87709031-87709032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557633456	chr12:87709032-87709033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577871585	chr12:87709043-87709044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540207627	chr12:87709051-87709052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560463032	chr12:87709062-87709063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs68056248	chr12:87709135-87709136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192455785	chr12:87709158-87709159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183789543	chr12:87709204-87709205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531675879	chr12:87709236-87709237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199858847	chr12:87709298-87709299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376370023	chr12:87709348-87709349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12833117	chr12:87709357-87709358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12810284	chr12:87709359-87709360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12833140	chr12:87709369-87709370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12810293	chr12:87709371-87709372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12810307	chr12:87709395-87709396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71078977	chr12:87709404-87709405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11104420	chr12:87709407-87709408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368620263	chr12:87709417-87709418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371086207	chr12:87709419-87709420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9804918	chr12:87709429-87709430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60653954	chr12:87709439-87709440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9804919	chr12:87709441-87709442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372226789	chr12:87709451-87709452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9804920	chr12:87709453-87709454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9804921	chr12:87709463-87709464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11104426	chr12:87709465-87709466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201110392	chr12:87709484-87709485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201565325	chr12:87709502-87709503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199941782	chr12:87709517-87709518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201074110	chr12:87709518-87709519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188951984	chr12:87709547-87709548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202240330	chr12:87709634-87709635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560409500	chr12:87709635-87709636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183961084	chr12:87709640-87709641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201177212	chr12:87709650-87709651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192929640	chr12:87709668-87709669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11610293	chr12:87709690-87709691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184192669	chr12:87709715-87709716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373985224	chr12:87709724-87709725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527885517	chr12:87709728-87709729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187016675	chr12:87709741-87709742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11610309	chr12:87709763-87709764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191655033	chr12:87709768-87709769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11610310	chr12:87709798-87709799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533333162	chr12:87709824-87709825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567605110	chr12:87709849-87709850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11610715	chr12:87709850-87709851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87705800-87711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:87708000-87709000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:87708000-87709200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:87708400-87709200	Enhancers	Fetal Heart	heart
5	chr12:87708800-87712400	Weak transcription	Aorta	Aorta
6	chr12:87709000-87711800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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