Variant report

Variant	nsv983470
Chromosome Location	chr12:74514991-74521900
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	chr12:74517100..74519637-chr12:74522625..74525226,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568153609	chr12:74520028-74520029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34043703	chr12:74520034-74520035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397791125	chr12:74520040-74520041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568631029	chr12:74520048-74520049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542550363	chr12:74520051-74520052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183750569	chr12:74520058-74520059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537914072	chr12:74520064-74520065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527876584	chr12:74520085-74520086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548007187	chr12:74520108-74520109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538179212	chr12:74520131-74520132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559974527	chr12:74520141-74520142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532103738	chr12:74520170-74520171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551727273	chr12:74520183-74520184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568526857	chr12:74520196-74520197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537705900	chr12:74520220-74520221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548185112	chr12:74520221-74520222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568385610	chr12:74520223-74520224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188481591	chr12:74520245-74520246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531841023	chr12:74520263-74520264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11179931	chr12:74520270-74520271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577386569	chr12:74520289-74520290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539957467	chr12:74520292-74520293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556558963	chr12:74520293-74520294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576510132	chr12:74520307-74520308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542253310	chr12:74520315-74520316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555774177	chr12:74520324-74520325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572729440	chr12:74520356-74520357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541242262	chr12:74520362-74520363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564723140	chr12:74520364-74520365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532044745	chr12:74520391-74520392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375729220	chr12:74520398-74520399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368344207	chr12:74520401-74520402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371942001	chr12:74520405-74520406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71458170	chr12:74520440-74520441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182814025	chr12:74520445-74520446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147987059	chr12:74520446-74520447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527607582	chr12:74520460-74520461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547244158	chr12:74520462-74520463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570671791	chr12:74520465-74520466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61657486	chr12:74520468-74520469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556689530	chr12:74520472-74520473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201965053	chr12:74520482-74520483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369280938	chr12:74520496-74520497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535463044	chr12:74520508-74520509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555757536	chr12:74520509-74520510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565264666	chr12:74520526-74520527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541726726	chr12:74520528-74520529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371806858	chr12:74520529-74520530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557888432	chr12:74520587-74520588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374657982	chr12:74520605-74520606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74520000-74528200	Weak transcription	K562	blood

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