Variant report

Variant	esv3490055
Chromosome Location	chr12:40881865-40883795
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	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40879237-40885130	NONHSAT027728

Extended variants
information (count: 185 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535175596	chr12:40881866-40881867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs115961032	chr12:40881885-40881886	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs71281667	chr12:40881897-40881898	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs74079003	chr12:40881916-40881917	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61916083	chr12:40881939-40881940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201014901	chr12:40881958-40881959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61916084	chr12:40881964-40881965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61916085	chr12:40881967-40881968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576361118	chr12:40881969-40881970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs61916086	chr12:40881986-40881987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs61916087	chr12:40882000-40882001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs561837211	chr12:40882002-40882003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs61916088	chr12:40882006-40882007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs377007001	chr12:40882014-40882015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs78975691	chr12:40882016-40882017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs12422284	chr12:40882024-40882025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs2452316	chr12:40882026-40882027	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12423478	chr12:40882033-40882034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs12422285	chr12:40882036-40882037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374535126	chr12:40882044-40882045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs12423481	chr12:40882046-40882047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs113747118	chr12:40882048-40882049	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs1844980	chr12:40882071-40882072	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533170811	chr12:40882075-40882076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74776052	chr12:40882079-40882080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs75329832	chr12:40882090-40882091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs147083461	chr12:40882105-40882106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs151053577	chr12:40882110-40882111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs1844981	chr12:40882121-40882122	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74609484	chr12:40882133-40882134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs80332294	chr12:40882136-40882137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs4768276	chr12:40882155-40882156	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs76182305	chr12:40882176-40882177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs74541170	chr12:40882177-40882178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs537316744	chr12:40882185-40882186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs549291563	chr12:40882206-40882207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs567738833	chr12:40882219-40882220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs367966316	chr12:40882220-40882221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs79843046	chr12:40882229-40882230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs553580249	chr12:40882231-40882232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs572058364	chr12:40882271-40882272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539165429	chr12:40882284-40882285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557748959	chr12:40882287-40882288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs372104617	chr12:40882317-40882318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs146488111	chr12:40882351-40882352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs200199532	chr12:40882362-40882363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs543718345	chr12:40882371-40882372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs527971458	chr12:40882385-40882386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs201560741	chr12:40882387-40882388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs370536468	chr12:40882388-40882389	Inactive region	lncRNA	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:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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