Variant report

Variant	esv3498541
Chromosome Location	chr12:117639969-117644967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117638881..117640489-chr12:117642610..117644525,2	K562	blood:
2	chr12:117638881..117640489-chr12:117642610..117644525,2	K562	blood:

Extended variants
information (count: 208 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60896372	chr12:117639991-117639992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138411648	chr12:117640025-117640026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201005382	chr12:117640062-117640063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531166216	chr12:117640082-117640083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191186972	chr12:117640091-117640092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559014786	chr12:117640120-117640121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58937896	chr12:117640163-117640164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183026050	chr12:117640194-117640195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539951374	chr12:117640207-117640208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188726457	chr12:117640210-117640211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142908173	chr12:117640240-117640241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146156193	chr12:117640273-117640274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554883737	chr12:117640274-117640275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555385672	chr12:117640294-117640295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574525152	chr12:117640317-117640318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138997473	chr12:117640359-117640360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556629091	chr12:117640394-117640395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539047012	chr12:117640438-117640439	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575272104	chr12:117640476-117640477	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576489627	chr12:117640491-117640492	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141982979	chr12:117640511-117640512	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117637808	chr12:117640516-117640517	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4766834	chr12:117640545-117640546	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs11068410	chr12:117640576-117640577	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562430314	chr12:117640588-117640589	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536183306	chr12:117640601-117640602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551194459	chr12:117640634-117640635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571062890	chr12:117640676-117640677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556139782	chr12:117640698-117640699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572650489	chr12:117640724-117640725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533440036	chr12:117640732-117640733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547134222	chr12:117640745-117640746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566858718	chr12:117640764-117640765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368006791	chr12:117640766-117640767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57603733	chr12:117640790-117640791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577779380	chr12:117640804-117640805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535873148	chr12:117640823-117640824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193259773	chr12:117640873-117640874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568384442	chr12:117640879-117640880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536955895	chr12:117640885-117640886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367742924	chr12:117640887-117640888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544844786	chr12:117640907-117640908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556690700	chr12:117640935-117640936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371477785	chr12:117640973-117640974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572678765	chr12:117641004-117641005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535091096	chr12:117641005-117641006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576648486	chr12:117641027-117641028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12304333	chr12:117641044-117641045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558270454	chr12:117641051-117641052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57222998	chr12:117641055-117641056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117629000-117641000	Weak transcription	Spleen	Spleen
2	chr12:117633600-117645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117640400-117640600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:117640400-117640600	Enhancers	HSMM	muscle
5	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
6	chr12:117642800-117643000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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