Variant report

Variant	esv3392556
Chromosome Location	chr12:11438685-11442883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368122279	chr12:11438727-11438728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148837329	chr12:11438813-11438814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555217694	chr12:11438831-11438832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574697089	chr12:11438842-11438843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143507957	chr12:11438865-11438866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557074592	chr12:11438870-11438871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148130424	chr12:11438880-11438881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141034343	chr12:11438892-11438893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76836254	chr12:11438930-11438931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576532109	chr12:11438962-11438963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145123210	chr12:11438994-11438995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189692072	chr12:11439048-11439049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139013248	chr12:11439066-11439067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576355075	chr12:11439094-11439095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142287698	chr12:11439107-11439108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78430417	chr12:11439114-11439115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564196699	chr12:11439166-11439167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183376884	chr12:11439171-11439172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532869925	chr12:11439173-11439174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186188742	chr12:11439181-11439182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566366142	chr12:11439191-11439192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146290573	chr12:11439212-11439213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548483600	chr12:11439214-11439215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568405789	chr12:11439232-11439233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537296667	chr12:11439241-11439242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373611866	chr12:11439258-11439259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557113740	chr12:11439262-11439263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183881217	chr12:11439327-11439328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539567065	chr12:11439330-11439331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368776261	chr12:11439353-11439354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372339551	chr12:11439367-11439368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573164071	chr12:11439378-11439379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7311979	chr12:11439380-11439381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562007041	chr12:11439408-11439409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575587794	chr12:11439412-11439413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192143573	chr12:11439429-11439430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540033649	chr12:11439475-11439476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544452742	chr12:11439496-11439497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564288344	chr12:11439505-11439506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533120325	chr12:11439555-11439556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546381311	chr12:11439559-11439560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560154142	chr12:11439597-11439598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528923147	chr12:11439630-11439631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7309111	chr12:11439652-11439653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201418441	chr12:11439683-11439684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568444728	chr12:11439695-11439696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532216080	chr12:11439740-11439741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183524461	chr12:11439798-11439799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550829068	chr12:11439810-11439811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35850788	chr12:11439814-11439815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11407400-11440200	Weak transcription	Primary T cells from cord blood	blood

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