Variant report

Variant	nsv53465
Chromosome Location	chr12:117694102-117695412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577710949	chr12:117694107-117694108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189175903	chr12:117694109-117694110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192519153	chr12:117694152-117694153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184247162	chr12:117694153-117694154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542685775	chr12:117694204-117694205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200833287	chr12:117694257-117694258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189009878	chr12:117694303-117694304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142907608	chr12:117694314-117694315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537218732	chr12:117694399-117694400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570615567	chr12:117694431-117694432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372270375	chr12:117694432-117694433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532993245	chr12:117694534-117694535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565236013	chr12:117694587-117694588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368526120	chr12:117694605-117694606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59476379	chr12:117694648-117694649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55685410	chr12:117694652-117694653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535407838	chr12:117694683-117694684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61578810	chr12:117694722-117694723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555102583	chr12:117694729-117694730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375295730	chr12:117694740-117694741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386766745	chr12:117694742-117694743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60832967	chr12:117694743-117694744	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181818080	chr12:117694754-117694755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577772247	chr12:117694767-117694768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186518042	chr12:117694791-117694792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554219444	chr12:117694799-117694800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574088297	chr12:117694806-117694807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542999981	chr12:117694809-117694810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562918803	chr12:117694864-117694865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576508304	chr12:117694865-117694866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544479184	chr12:117694874-117694875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564388160	chr12:117694885-117694886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533122217	chr12:117694945-117694946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368271415	chr12:117694956-117694957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546505645	chr12:117694981-117694982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560177904	chr12:117694983-117694984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35556284	chr12:117694997-117694998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144662517	chr12:117695103-117695104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189745379	chr12:117695111-117695112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112778033	chr12:117695126-117695127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12318813	chr12:117695134-117695135	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537454434	chr12:117695138-117695139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140421118	chr12:117695172-117695173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12425008	chr12:117695177-117695178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76034773	chr12:117695201-117695202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561344282	chr12:117695213-117695214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534390136	chr12:117695289-117695290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1093325	chr12:117695320-117695321	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12425263	chr12:117695336-117695337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540978446	chr12:117695346-117695347	Weak transcription Strong 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
3	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117687400-117695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117689600-117696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:117691000-117697400	Strong transcription	NHEK	skin
8	chr12:117693600-117694200	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:117693600-117694600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117693800-117698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:117693800-117715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117694200-117696000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:117694600-117696400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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