Variant report

Variant	esv3414439
Chromosome Location	chr12:20907505-20910086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530734428	chr12:20907524-20907525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376200546	chr12:20907577-20907578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184564178	chr12:20907579-20907580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576069910	chr12:20907591-20907592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549070690	chr12:20907596-20907597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140912051	chr12:20907608-20907609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376831280	chr12:20907609-20907610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540615743	chr12:20907612-20907613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187396825	chr12:20907619-20907620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533653755	chr12:20907633-20907634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114500619	chr12:20907643-20907644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563867271	chr12:20907650-20907651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12307809	chr12:20907685-20907686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139809097	chr12:20907763-20907764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549545916	chr12:20907765-20907766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202209951	chr12:20907798-20907799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535055880	chr12:20907841-20907842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551779837	chr12:20907842-20907843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570783950	chr12:20907860-20907861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35455953	chr12:20907973-20907974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10841614	chr12:20908165-20908166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs545404746	chr12:20908195-20908196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113686049	chr12:20908274-20908275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556092561	chr12:20908338-20908339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185024888	chr12:20908342-20908343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11045439	chr12:20908365-20908366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370099077	chr12:20908445-20908446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541076649	chr12:20908467-20908468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7969642	chr12:20908487-20908488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11045440	chr12:20908506-20908507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148953787	chr12:20908531-20908532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189535075	chr12:20908533-20908534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112860141	chr12:20908583-20908584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544048077	chr12:20908599-20908600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563824236	chr12:20908634-20908635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111482800	chr12:20908641-20908642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529532399	chr12:20908645-20908646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377126094	chr12:20908679-20908680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549586414	chr12:20908692-20908693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547315657	chr12:20908746-20908747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7970323	chr12:20908751-20908752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528569845	chr12:20908757-20908758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563607772	chr12:20908920-20908921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551816654	chr12:20908954-20908955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571574150	chr12:20908974-20908975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539351985	chr12:20908988-20908989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550093055	chr12:20909020-20909021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560942657	chr12:20909072-20909073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528223580	chr12:20909074-20909075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535300922	chr12:20909102-20909103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20892800-20922200	Weak transcription	Aorta	Aorta
2	chr12:20909800-20910200	Enhancers	HepG2	liver

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