Variant report

Variant	nsv558624
Chromosome Location	chr12:40874860-40879854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40872855-40879178	NONHSAT027728
2	lnc-MUC19-1	chr12:40879237-40885130	NONHSAT027728

Extended variants
information (count: 303 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140686738	chr12:40874954-40874955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs373215455	chr12:40875024-40875025	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145895653	chr12:40875053-40875054	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138494529	chr12:40875057-40875058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs577317561	chr12:40875126-40875127	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544384258	chr12:40875135-40875136	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2405077	chr12:40875150-40875151	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552735630	chr12:40875171-40875172	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs78967590	chr12:40875172-40875173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112784238	chr12:40875188-40875189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117875457	chr12:40875193-40875194	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560796758	chr12:40875228-40875229	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527877753	chr12:40875250-40875251	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs552850110	chr12:40875308-40875309	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs2251431	chr12:40875351-40875352	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146950374	chr12:40875386-40875387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs145652182	chr12:40875390-40875391	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2405079	chr12:40875398-40875399	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2405080	chr12:40875401-40875402	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2405081	chr12:40875406-40875407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs2405082	chr12:40875408-40875409	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2405083	chr12:40875410-40875411	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs2405084	chr12:40875413-40875414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs2405085	chr12:40875414-40875415	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2405086	chr12:40875415-40875416	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs2405087	chr12:40875420-40875421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2405088	chr12:40875426-40875427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2405089	chr12:40875427-40875428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs2405090	chr12:40875428-40875429	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs2405091	chr12:40875431-40875432	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs2405092	chr12:40875436-40875437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs2405093	chr12:40875439-40875440	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs2405094	chr12:40875440-40875441	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs2405095	chr12:40875444-40875445	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572308390	chr12:40875461-40875462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs137968181	chr12:40875465-40875466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs376902420	chr12:40875471-40875472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs11176817	chr12:40875476-40875477	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533737300	chr12:40875480-40875481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs11176818	chr12:40875498-40875499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs558674427	chr12:40875523-40875524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs11176819	chr12:40875525-40875526	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs554435475	chr12:40875547-40875548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs545312000	chr12:40875551-40875552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs186562878	chr12:40875559-40875560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs5797672	chr12:40875574-40875575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544660367	chr12:40875592-40875593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs11176820	chr12:40875605-40875606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs370911493	chr12:40875665-40875666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs7486157	chr12:40875695-40875696	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40873800-40875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40877600-40878000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr12:40877600-40878800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:40878200-40878800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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