Variant report

Variant	esv3372802
Chromosome Location	chr12:59965510-59968058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139040829	chr12:59965513-59965514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149867740	chr12:59965532-59965533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145429281	chr12:59965535-59965536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530962844	chr12:59965556-59965557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552596068	chr12:59965575-59965576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527415035	chr12:59965637-59965638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570808373	chr12:59965642-59965643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191346836	chr12:59965653-59965654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182968365	chr12:59965667-59965668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2646312	chr12:59965726-59965727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535608004	chr12:59965737-59965738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148797182	chr12:59965740-59965741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529730289	chr12:59965791-59965792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2671854	chr12:59965817-59965818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187263343	chr12:59965821-59965822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557330157	chr12:59965831-59965832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572753568	chr12:59965967-59965968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535017486	chr12:59965978-59965979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369280228	chr12:59965980-59965981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2671853	chr12:59965996-59965997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543676677	chr12:59966045-59966046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542425989	chr12:59966122-59966123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146843189	chr12:59966189-59966190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575803681	chr12:59966235-59966236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546272022	chr12:59966299-59966300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74234343	chr12:59966341-59966342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528230538	chr12:59966390-59966391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376042909	chr12:59966396-59966397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546597627	chr12:59966402-59966403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561997389	chr12:59966437-59966438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145713249	chr12:59966438-59966439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550354132	chr12:59966469-59966470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568660951	chr12:59966512-59966513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3106581	chr12:59966532-59966533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199820286	chr12:59966534-59966535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200773167	chr12:59966541-59966542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375909457	chr12:59966544-59966545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571397037	chr12:59966545-59966546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199877803	chr12:59966555-59966556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529202663	chr12:59966567-59966568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3104331	chr12:59966576-59966577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117610920	chr12:59966586-59966587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3106580	chr12:59966600-59966601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112967747	chr12:59966610-59966611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112322873	chr12:59966614-59966615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200050557	chr12:59966617-59966618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11614580	chr12:59966623-59966624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575067981	chr12:59966632-59966633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192542199	chr12:59966642-59966643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557591188	chr12:59966645-59966646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59961800-59970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:59964600-59968200	Weak transcription	Hela-S3	cervix
3	chr12:59967600-59968800	Enhancers	Primary T cells from cord blood	blood
4	chr12:59967600-59969000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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