Variant report

Variant	nsv442289
Chromosome Location	chr12:118049324-118051527
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	chr12:118014276..118016449-chr12:118050467..118052138,2	K562	blood:
2	chr12:118046298..118048327-chr12:118049389..118052295,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10850859	chr12:118049324-118049325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112807156	chr12:118049383-118049384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113307062	chr12:118049414-118049415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569613493	chr12:118049498-118049499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17585329	chr12:118049507-118049508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79796214	chr12:118049508-118049509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572712737	chr12:118049586-118049587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118047584	chr12:118049613-118049614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190252582	chr12:118049653-118049654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193263171	chr12:118049681-118049682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370243267	chr12:118049688-118049689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557436312	chr12:118049716-118049717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577220245	chr12:118049717-118049718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184986170	chr12:118049804-118049805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371173067	chr12:118049814-118049815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189255562	chr12:118049848-118049849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527613365	chr12:118049885-118049886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75466077	chr12:118049913-118049914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181227826	chr12:118049916-118049917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529926815	chr12:118049920-118049921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78916508	chr12:118049930-118049931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574766059	chr12:118049936-118049937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569757040	chr12:118050006-118050007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184290959	chr12:118050029-118050030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552182554	chr12:118050060-118050061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556629522	chr12:118050065-118050066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565515695	chr12:118050066-118050067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554053917	chr12:118050069-118050070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535028386	chr12:118050078-118050079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1850402	chr12:118050081-118050082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568373122	chr12:118050092-118050093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368787083	chr12:118050101-118050102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537250948	chr12:118050158-118050159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557243491	chr12:118050161-118050162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577282712	chr12:118050203-118050204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11436103	chr12:118050207-118050208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66657915	chr12:118050213-118050214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553380374	chr12:118050214-118050215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61938992	chr12:118050403-118050404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573265313	chr12:118050430-118050431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150677910	chr12:118050464-118050465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141564824	chr12:118050490-118050491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576501167	chr12:118050502-118050503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542205624	chr12:118050505-118050506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114742752	chr12:118050511-118050512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112784795	chr12:118050536-118050537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531197567	chr12:118050544-118050545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188195083	chr12:118050548-118050549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79702285	chr12:118050596-118050597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12425044	chr12:118050630-118050631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118045800-118051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:118045800-118051400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118051200-118051400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118051400-118051600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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