Variant report

Variant	esv3325302
Chromosome Location	chr12:40104735-40109283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 428 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540909912	chr12:40104735-40104736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185530337	chr12:40104736-40104737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74814620	chr12:40104780-40104781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145812964	chr12:40104781-40104782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551464273	chr12:40104793-40104794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141700198	chr12:40104811-40104812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189987646	chr12:40104842-40104843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34458127	chr12:40104844-40104845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549583089	chr12:40104861-40104862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182974930	chr12:40104862-40104863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535357202	chr12:40104881-40104882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547289564	chr12:40104892-40104893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552450635	chr12:40104899-40104900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10784016	chr12:40104919-40104920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539397137	chr12:40104941-40104942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577004247	chr12:40105017-40105018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370327768	chr12:40105023-40105024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188588842	chr12:40105028-40105029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576131697	chr12:40105031-40105032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147063945	chr12:40105040-40105041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555570748	chr12:40105049-40105050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199889250	chr12:40105050-40105051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530499743	chr12:40105051-40105052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369952475	chr12:40105065-40105066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573718301	chr12:40105086-40105087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540948739	chr12:40105089-40105090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546977833	chr12:40105102-40105103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192133912	chr12:40105118-40105119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184071585	chr12:40105131-40105132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545047019	chr12:40105134-40105135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528339810	chr12:40105135-40105136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188622440	chr12:40105146-40105147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191497498	chr12:40105156-40105157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549175950	chr12:40105159-40105160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183687538	chr12:40105162-40105163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528652575	chr12:40105164-40105165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547329489	chr12:40105165-40105166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572008380	chr12:40105174-40105175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200942713	chr12:40105188-40105189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539334485	chr12:40105203-40105204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10877369	chr12:40105222-40105223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569532162	chr12:40105224-40105225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201425328	chr12:40105236-40105237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145752213	chr12:40105254-40105255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137908416	chr12:40105255-40105256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141921508	chr12:40105258-40105259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11613416	chr12:40105260-40105261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372381509	chr12:40105264-40105265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142352564	chr12:40105272-40105273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535549502	chr12:40105274-40105275	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40104000-40105400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:40106400-40107400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:40106400-40108000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:40107200-40108400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr12:40108400-40108800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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