Variant report

Variant	nsv973058
Chromosome Location	chr12:42680924-42683836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZRN4-3	chr12:42682122-42682305	NONHSAT027768
2	lnc-PDZRN4-3	chr12:42683299-42683400	NONHSAT027768

Extended variants
information (count: 43 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548950178	chr12:42682122-42682123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs568304094	chr12:42682131-42682132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs535735060	chr12:42682181-42682182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs74078007	chr12:42682195-42682196	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188737847	chr12:42682197-42682198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539557071	chr12:42682213-42682214	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12366848	chr12:42682215-42682216	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs150799148	chr12:42682219-42682220	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576185083	chr12:42682237-42682238	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543480539	chr12:42682248-42682249	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373021357	chr12:42682255-42682256	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182648196	chr12:42682262-42682263	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200480969	chr12:42682281-42682282	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs12371762	chr12:42682351-42682352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs529560712	chr12:42682367-42682368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559709752	chr12:42682399-42682400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112457323	chr12:42682413-42682414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113547377	chr12:42682490-42682491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563473548	chr12:42682503-42682504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530901609	chr12:42682505-42682506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549155384	chr12:42682507-42682508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114889690	chr12:42682528-42682529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529182805	chr12:42682547-42682548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547636309	chr12:42682565-42682566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191464094	chr12:42682572-42682573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539672294	chr12:42682577-42682578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61924344	chr12:42682586-42682587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569810961	chr12:42682594-42682595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537142530	chr12:42682607-42682608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111265606	chr12:42682609-42682610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7306744	chr12:42682611-42682612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573544773	chr12:42682656-42682657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535027679	chr12:42682667-42682668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553653818	chr12:42682675-42682676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185648942	chr12:42682722-42682723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190225784	chr12:42682723-42682724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569968778	chr12:42682725-42682726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199519908	chr12:42682727-42682728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193257270	chr12:42682764-42682765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562856150	chr12:42682777-42682778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549032657	chr12:42683344-42683345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567225953	chr12:42683350-42683351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs189140038	chr12:42683358-42683359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42682200-42682800	Enhancers	Placenta	Placenta

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