Variant report

Variant	esv3429551
Chromosome Location	chr12:39195935-39200133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371534064	chr12:39195956-39195957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375812587	chr12:39196053-39196054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548305396	chr12:39196065-39196066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568098217	chr12:39196067-39196068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10876101	chr12:39196080-39196081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530855408	chr12:39196133-39196134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550459017	chr12:39196167-39196168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201962755	chr12:39196168-39196169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374878139	chr12:39196224-39196225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11533635	chr12:39196256-39196257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182355290	chr12:39196277-39196278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139007660	chr12:39196285-39196286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201310382	chr12:39196297-39196298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371471461	chr12:39196340-39196341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566577826	chr12:39196341-39196342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372686730	chr12:39196344-39196345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535525687	chr12:39196364-39196365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202064410	chr12:39196372-39196373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575307131	chr12:39196404-39196405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544178307	chr12:39196409-39196410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557798051	chr12:39196431-39196432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577435908	chr12:39196494-39196495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546203842	chr12:39196499-39196500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559875755	chr12:39196511-39196512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528714561	chr12:39196514-39196515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372409412	chr12:39196521-39196522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561893701	chr12:39196536-39196537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530919450	chr12:39196556-39196557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370182338	chr12:39196557-39196558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550526074	chr12:39196560-39196561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570778429	chr12:39196561-39196562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533233454	chr12:39196592-39196593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546609983	chr12:39196604-39196605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566647679	chr12:39196670-39196671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535693417	chr12:39196707-39196708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555602062	chr12:39196711-39196712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568934145	chr12:39196715-39196716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546368041	chr12:39196716-39196717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61937806	chr12:39196721-39196722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537957527	chr12:39196735-39196736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557711280	chr12:39196754-39196755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577597858	chr12:39196755-39196756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540110680	chr12:39196756-39196757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553430792	chr12:39196773-39196774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199979980	chr12:39196815-39196816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573099429	chr12:39196920-39196921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541973693	chr12:39196928-39196929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149081853	chr12:39197101-39197102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575305623	chr12:39197143-39197144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143341251	chr12:39197158-39197159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21509527	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39182600-39202800	Weak transcription	Liver	Liver
2	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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