Variant report

Variant	esv3498552
Chromosome Location	chr12:117640879-117643722
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:

Extended variants
information (count: 105 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568384442	chr12:117640879-117640880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536955895	chr12:117640885-117640886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367742924	chr12:117640887-117640888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544844786	chr12:117640907-117640908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556690700	chr12:117640935-117640936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371477785	chr12:117640973-117640974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572678765	chr12:117641004-117641005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535091096	chr12:117641005-117641006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576648486	chr12:117641027-117641028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12304333	chr12:117641044-117641045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558270454	chr12:117641051-117641052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57222998	chr12:117641055-117641056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572981112	chr12:117641064-117641065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541853663	chr12:117641065-117641066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562232933	chr12:117641172-117641173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11068411	chr12:117641229-117641230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544945777	chr12:117641255-117641256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4767520	chr12:117641259-117641260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs142868889	chr12:117641280-117641281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533603858	chr12:117641314-117641315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557366249	chr12:117641331-117641332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547095342	chr12:117641336-117641337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569707266	chr12:117641337-117641338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576216548	chr12:117641398-117641399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529203616	chr12:117641443-117641444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541726279	chr12:117641484-117641485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529263085	chr12:117641546-117641547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184984276	chr12:117641557-117641558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4766835	chr12:117641605-117641606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537324448	chr12:117641639-117641640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187590583	chr12:117641654-117641655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199648415	chr12:117641704-117641705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570296726	chr12:117641719-117641720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72411687	chr12:117641746-117641747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5801223	chr12:117641754-117641755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539275484	chr12:117641782-117641783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374904742	chr12:117641832-117641833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369015977	chr12:117641958-117641959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373484870	chr12:117642045-117642046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535649731	chr12:117642109-117642110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140513324	chr12:117642140-117642141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535204978	chr12:117642167-117642168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555317767	chr12:117642206-117642207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533094574	chr12:117642229-117642230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113976058	chr12:117642243-117642244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34251552	chr12:117642291-117642292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11392807	chr12:117642292-117642293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575150359	chr12:117642312-117642313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58689904	chr12:117642313-117642314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375510967	chr12:117642319-117642320	Weak transcription	n/a	n/a	Overlapped CNVs	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:4 , 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	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
4	chr12:117642800-117643000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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