Variant report

Variant	nsv558674
Chromosome Location	chr12:40875476-40877007
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

Extended variants
information (count: 104 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11176817	chr12:40875476-40875477	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533737300	chr12:40875480-40875481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11176818	chr12:40875498-40875499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558674427	chr12:40875523-40875524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs11176819	chr12:40875525-40875526	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554435475	chr12:40875547-40875548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545312000	chr12:40875551-40875552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs186562878	chr12:40875559-40875560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs5797672	chr12:40875574-40875575	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs544660367	chr12:40875592-40875593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs11176820	chr12:40875605-40875606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370911493	chr12:40875665-40875666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs7486157	chr12:40875695-40875696	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149485073	chr12:40875704-40875705	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574865348	chr12:40875743-40875744	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1492320	chr12:40875752-40875753	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560763974	chr12:40875781-40875782	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191798371	chr12:40875829-40875830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567494013	chr12:40875840-40875841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546189429	chr12:40875894-40875895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564665219	chr12:40875921-40875922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4768268	chr12:40875963-40875964	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373231025	chr12:40875968-40875969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375901018	chr12:40875969-40875970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370364201	chr12:40875972-40875973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs374814349	chr12:40875973-40875974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs367566159	chr12:40875974-40875975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs1492322	chr12:40875983-40875984	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568892029	chr12:40875993-40875994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs529634397	chr12:40876044-40876045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs73100423	chr12:40876068-40876069	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559043300	chr12:40876095-40876096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs529702919	chr12:40876145-40876146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs367915233	chr12:40876162-40876163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs117049248	chr12:40876194-40876195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs533799066	chr12:40876222-40876223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs147176718	chr12:40876229-40876230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs570597911	chr12:40876256-40876257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs537674948	chr12:40876257-40876258	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs73100424	chr12:40876263-40876264	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563951820	chr12:40876266-40876267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs575032413	chr12:40876298-40876299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs371720300	chr12:40876308-40876309	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs554168532	chr12:40876314-40876315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs199972676	chr12:40876350-40876351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs74076588	chr12:40876351-40876352	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371275975	chr12:40876354-40876355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546445156	chr12:40876365-40876366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs367671091	chr12:40876380-40876381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs73100426	chr12:40876381-40876382	Inactive region	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:1 , 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

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