Variant report

Variant	esv3374922
Chromosome Location	chr12:47144185-47145733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36132346	chr12:47144805-47144806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375875216	chr12:47144806-47144807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56940786	chr12:47144818-47144819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1468969	chr12:47144856-47144857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575737230	chr12:47144901-47144902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546738505	chr12:47144910-47144911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35061598	chr12:47144923-47144924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78106358	chr12:47144926-47144927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200675272	chr12:47144940-47144941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372070668	chr12:47144979-47144980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4768754	chr12:47144982-47144983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567178160	chr12:47144987-47144988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12315315	chr12:47144993-47144994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181934962	chr12:47144994-47144995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4768755	chr12:47145000-47145001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61567424	chr12:47145224-47145225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559497518	chr12:47145269-47145270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527463572	chr12:47145297-47145298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138436283	chr12:47145328-47145329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564355878	chr12:47145356-47145357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533405153	chr12:47145370-47145371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190002938	chr12:47145379-47145380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142330771	chr12:47145413-47145414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146434424	chr12:47145417-47145418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549173872	chr12:47145440-47145441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12426014	chr12:47145441-47145442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79618521	chr12:47145460-47145461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78652469	chr12:47145485-47145486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577914615	chr12:47145509-47145510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537302669	chr12:47145511-47145512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2430914	chr12:47145534-47145535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575915483	chr12:47145561-47145562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181201549	chr12:47145565-47145566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555145596	chr12:47145606-47145607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572237675	chr12:47145618-47145619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186477859	chr12:47145635-47145636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47144800-47145000	Enhancers	Primary T cells from cord blood	blood
2	chr12:47145200-47145600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:47145200-47146200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:47145200-47146200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:47145200-47146400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:47145200-47146800	Enhancers	HepG2	liver
7	chr12:47145600-47146000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:47145600-47146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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