Variant report

Variant	esv3442654
Chromosome Location	chr12:42063185-42069183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537094271	chr12:42065209-42065210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555344091	chr12:42065261-42065262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573910189	chr12:42065284-42065285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191076401	chr12:42065317-42065318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183841438	chr12:42065332-42065333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371786944	chr12:42065333-42065334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77493221	chr12:42065366-42065367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs395925	chr12:42065372-42065373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189252544	chr12:42065379-42065380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531637674	chr12:42065384-42065385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192011268	chr12:42065391-42065392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561736451	chr12:42065393-42065394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528851537	chr12:42065394-42065395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547493378	chr12:42065397-42065398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541521523	chr12:42065401-42065402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143926398	chr12:42065404-42065405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533383746	chr12:42065419-42065420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184461107	chr12:42065421-42065422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569867411	chr12:42065436-42065437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187435603	chr12:42065439-42065440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555749600	chr12:42065450-42065451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567671479	chr12:42065461-42065462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150655708	chr12:42065462-42065463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191565785	chr12:42065480-42065481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139894171	chr12:42065481-42065482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557989896	chr12:42065482-42065483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576265997	chr12:42065490-42065491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543756690	chr12:42065513-42065514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561807679	chr12:42065520-42065521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573610734	chr12:42065531-42065532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542480948	chr12:42065542-42065543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563955726	chr12:42065544-42065545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540654814	chr12:42065560-42065561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201007212	chr12:42065576-42065577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532867009	chr12:42065584-42065585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12424951	chr12:42065592-42065593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563554404	chr12:42065594-42065595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376611260	chr12:42065635-42065636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369944705	chr12:42065642-42065643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11181091	chr12:42065650-42065651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535056256	chr12:42065651-42065652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546671440	chr12:42065655-42065656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377684597	chr12:42065665-42065666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369118109	chr12:42065670-42065671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571624894	chr12:42065677-42065678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539147793	chr12:42065681-42065682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557459033	chr12:42065682-42065683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12424962	chr12:42065687-42065688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536824531	chr12:42065692-42065693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555669083	chr12:42065708-42065709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42065200-42067600	Weak transcription	Right Atrium	heart
2	chr12:42065800-42066600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:42065800-42066800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:42068800-42069000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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