Variant report

Variant	esv3421035
Chromosome Location	chr12:42237570-42239198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73272889	chr12:42237582-42237583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572574097	chr12:42237610-42237611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369339835	chr12:42237650-42237651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372884707	chr12:42237667-42237668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116032025	chr12:42237780-42237781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140319683	chr12:42237797-42237798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538241843	chr12:42237810-42237811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12299795	chr12:42237824-42237825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185267609	chr12:42237835-42237836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145455272	chr12:42237839-42237840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146509204	chr12:42237850-42237851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4548682	chr12:42237891-42237892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4420329	chr12:42237903-42237904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141128594	chr12:42237938-42237939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189654048	chr12:42238007-42238008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570407588	chr12:42238012-42238013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79253037	chr12:42238022-42238023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199760971	chr12:42238071-42238072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11181187	chr12:42238107-42238108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374410093	chr12:42238222-42238223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377750618	chr12:42238254-42238255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11181188	chr12:42238422-42238423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370769753	chr12:42238441-42238442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373509588	chr12:42238563-42238564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60019193	chr12:42238567-42238568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370647341	chr12:42238615-42238616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374047924	chr12:42238618-42238619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367646494	chr12:42238762-42238763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112576578	chr12:42238837-42238838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201328908	chr12:42238877-42238878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529207239	chr12:42239061-42239062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568817810	chr12:42239094-42239095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2897382	chr12:42239112-42239113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182016184	chr12:42239123-42239124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187626957	chr12:42239158-42239159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12813155	chr12:42239175-42239176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192017960	chr12:42239187-42239188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42218600-42257000	Weak transcription	Aorta	Aorta
2	chr12:42231400-42238000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:42238000-42238200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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