Variant report

Variant	nsv516651
Chromosome Location	chr1:71305078-71306749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGER3-4	chr1:71305532-71305946	expReg_chr1_9998_-

Extended variants
information (count: 64 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11810467	chr1:71305078-71305079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549401427	chr1:71305083-71305084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569843515	chr1:71305105-71305106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144753090	chr1:71305115-71305116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552038503	chr1:71305126-71305127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565875764	chr1:71305141-71305142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534249683	chr1:71305147-71305148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138666331	chr1:71305221-71305222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368481653	chr1:71305231-71305232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574207069	chr1:71305255-71305256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536629275	chr1:71305278-71305279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542628267	chr1:71305310-71305311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11209705	chr1:71305322-71305323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11810504	chr1:71305328-71305329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115341039	chr1:71305333-71305334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574967780	chr1:71305355-71305356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12049445	chr1:71305367-71305368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76662277	chr1:71305418-71305419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182725257	chr1:71305488-71305489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550030576	chr1:71305505-71305506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1327462	chr1:71305516-71305517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187798006	chr1:71305551-71305552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs369599495	chr1:71305580-71305581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs543047492	chr1:71305676-71305677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs12067572	chr1:71305698-71305699	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570851004	chr1:71305733-71305734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552459158	chr1:71305747-71305748	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs562228818	chr1:71305773-71305774	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs565708448	chr1:71305780-71305781	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs528272208	chr1:71305788-71305789	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs533156742	chr1:71305800-71305801	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548436419	chr1:71305847-71305848	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs191295717	chr1:71305855-71305856	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536749487	chr1:71305856-71305857	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556246044	chr1:71305891-71305892	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs114263618	chr1:71305956-71305957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538936982	chr1:71305978-71305979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35939977	chr1:71305994-71305995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532346467	chr1:71306013-71306014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559182853	chr1:71306040-71306041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79683023	chr1:71306055-71306056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541217407	chr1:71306090-71306091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563486715	chr1:71306122-71306123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565792073	chr1:71306137-71306138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536257129	chr1:71306285-71306286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77657882	chr1:71306330-71306331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564002439	chr1:71306331-71306332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532116143	chr1:71306350-71306351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55942279	chr1:71306354-71306355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368372408	chr1:71306366-71306367	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20962326	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71304800-71305800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:71305800-71308400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71305800-71309000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71306200-71307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:71306400-71308400	Enhancers	NHDF-Ad	bronchial

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