Variant report

Variant	nsv526848
Chromosome Location	chr12:40843836-40848113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40803393..40806032-chr12:40844478..40846629,2	K562	blood:
2	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:
3	chr12:40842998..40844668-chr12:40844905..40846558,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40844474-40844518	NONHSAT027728
2	lnc-MUC19-1	chr12:40844063-40844095	NONHSAT027728

Extended variants
information (count: 57 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190990154	chr12:40844079-40844080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs574471902	chr12:40844489-40844490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs369374846	chr12:40845611-40845612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565453125	chr12:40845626-40845627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11176696	chr12:40845635-40845636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11176697	chr12:40845715-40845716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201461011	chr12:40845762-40845763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71434321	chr12:40845763-40845764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576269284	chr12:40845774-40845775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9805051	chr12:40845791-40845792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555532125	chr12:40845794-40845795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17128229	chr12:40846637-40846638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545566582	chr12:40846703-40846704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7966877	chr12:40846732-40846733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575508743	chr12:40846778-40846779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554988479	chr12:40846792-40846793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10878602	chr12:40846865-40846866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561394703	chr12:40846868-40846869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375710696	chr12:40846878-40846879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569674989	chr12:40846879-40846880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145000911	chr12:40846920-40846921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546774040	chr12:40846984-40846985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565176708	chr12:40847013-40847014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189194009	chr12:40847019-40847020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181953512	chr12:40847068-40847069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201237718	chr12:40847116-40847117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551139253	chr12:40847138-40847139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569739018	chr12:40847175-40847176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370788539	chr12:40847201-40847202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7954676	chr12:40847205-40847206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548993830	chr12:40847213-40847214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11614334	chr12:40847218-40847219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374516540	chr12:40847289-40847290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534958860	chr12:40847293-40847294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553201988	chr12:40847297-40847298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147563902	chr12:40847304-40847305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538837073	chr12:40847358-40847359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10878603	chr12:40847361-40847362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567336097	chr12:40847391-40847392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575713734	chr12:40847451-40847452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185686443	chr12:40847452-40847453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561367189	chr12:40847481-40847482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140757159	chr12:40847545-40847546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4768265	chr12:40847566-40847567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555707452	chr12:40847570-40847571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375319077	chr12:40847581-40847582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565239401	chr12:40847706-40847707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191919689	chr12:40847708-40847709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530856891	chr12:40847777-40847778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551167760	chr12:40847900-40847901	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40845600-40845800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:40846600-40847400	Enhancers	A549	lung
3	chr12:40846800-40848200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40847400-40848000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:40847600-40848000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links