Variant report

Variant	nsv946013
Chromosome Location	chr1:80748957-80749457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr1:80749369-80749666	HepG2	liver:	n/a	n/a
2	MAFK	chr1:80749378-80749710	HepG2	liver:	n/a	n/a
3	MAFK	chr1:80749393-80749694	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPHN2-11	chr1:80749037-80749655	NONHSAT004107

Variant related genes	Relation type
HMGB1P18	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569228042	chr1:80748963-80748964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145629726	chr1:80748967-80748968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183822109	chr1:80748988-80748989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568225456	chr1:80749007-80749008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138347652	chr1:80749060-80749061	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs553967858	chr1:80749104-80749105	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs577050528	chr1:80749117-80749118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs546461152	chr1:80749120-80749121	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs370719310	chr1:80749124-80749125	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs546628822	chr1:80749125-80749126	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149580901	chr1:80749154-80749155	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs575173160	chr1:80749157-80749158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs543866290	chr1:80749170-80749171	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114797848	chr1:80749235-80749236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs188036627	chr1:80749261-80749262	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540397808	chr1:80749269-80749270	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192314857	chr1:80749279-80749280	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532250689	chr1:80749310-80749311	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs144555672	chr1:80749323-80749324	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs569062628	chr1:80749326-80749327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs148022828	chr1:80749327-80749328	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs1776290	chr1:80749361-80749362	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568188875	chr1:80749374-80749375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs534008183	chr1:80749386-80749387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs141787350	chr1:80749413-80749414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs571015680	chr1:80749419-80749420	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs539690611	chr1:80749427-80749428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80745000-80758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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