Variant report

Variant	esv3365070
Chromosome Location	chr12:118100498-118102426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118094873..118097997-chr12:118099914..118101692,3	K562	blood:
2	chr12:118096493..118098398-chr12:118099429..118101642,2	MCF-7	breast:
3	chr12:118099770..118101972-chr12:118106022..118108315,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1806784	chr12:118100579-118100580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140610849	chr12:118100666-118100667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193180184	chr12:118100699-118100700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183519525	chr12:118100748-118100749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7299485	chr12:118100768-118100769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113916016	chr12:118100769-118100770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538431904	chr12:118100776-118100777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533030420	chr12:118100790-118100791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533326977	chr12:118100791-118100792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546723431	chr12:118100804-118100805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566616320	chr12:118100806-118100807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111326733	chr12:118100834-118100835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546982199	chr12:118100841-118100842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558688485	chr12:118100872-118100873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188119703	chr12:118100895-118100896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2393251	chr12:118100932-118100933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536969320	chr12:118100935-118100936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12319304	chr12:118100961-118100962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116939168	chr12:118100995-118100996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570590474	chr12:118101051-118101052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147401231	chr12:118101102-118101103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192726988	chr12:118101117-118101118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58395357	chr12:118101183-118101184	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148460172	chr12:118101264-118101265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184471889	chr12:118101336-118101337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376421973	chr12:118101376-118101377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555082411	chr12:118101413-118101414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575146899	chr12:118101501-118101502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73211989	chr12:118101556-118101557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564783966	chr12:118101566-118101567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78885760	chr12:118101605-118101606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540423454	chr12:118101649-118101650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188320569	chr12:118101651-118101652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16947853	chr12:118101685-118101686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532870174	chr12:118101688-118101689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546203575	chr12:118101727-118101728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61211766	chr12:118101788-118101789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562771970	chr12:118101828-118101829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531718824	chr12:118101834-118101835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78269209	chr12:118101835-118101836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150958713	chr12:118101836-118101837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539695129	chr12:118101846-118101847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16947860	chr12:118101857-118101858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566636403	chr12:118101888-118101889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201412007	chr12:118101928-118101929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372232822	chr12:118101929-118101930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368917142	chr12:118101951-118101952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34174768	chr12:118102046-118102047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398098530	chr12:118102049-118102050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575164608	chr12:118102106-118102107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Charcot-marie-tooth disease	22275255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118090000-118109800	Weak transcription	Pancreas	Pancrea
2	chr12:118098600-118101200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:118098600-118101800	Enhancers	HUVEC	blood vessel
4	chr12:118099400-118101200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118099800-118101000	Enhancers	NHDF-Ad	bronchial
6	chr12:118099800-118102000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:118100000-118101200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:118100200-118101000	Enhancers	A549	lung
9	chr12:118100200-118101200	Enhancers	NHEK	skin
10	chr12:118100600-118101000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:118101200-118101600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:118101600-118102800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:118101800-118109600	Weak transcription	HUVEC	blood vessel
14	chr12:118102000-118102600	Enhancers	Adipose Nuclei	Adipose
15	chr12:118102000-118102800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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