Variant report

Variant	nsv968142
Chromosome Location	chr5:17486305-17487006
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	CEBPB	chr5:17486902-17487265	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr5:17486619-17486669	Fibrobl	skin:	n/a	n/a
3	POLR2A	chr5:17486556-17486745	A549	lung:	n/a	n/a
4	POLR2A	chr5:17486712-17486833	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251304	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7709055	chr5:17486311-17486312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149735594	chr5:17486312-17486313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72740571	chr5:17486394-17486395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542786074	chr5:17486405-17486406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559585391	chr5:17486447-17486448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186941323	chr5:17486486-17486487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551568137	chr5:17486517-17486518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571423440	chr5:17486518-17486519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530837376	chr5:17486521-17486522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550657562	chr5:17486554-17486555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567359871	chr5:17486556-17486557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536342293	chr5:17486564-17486565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553076397	chr5:17486569-17486570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566710455	chr5:17486575-17486576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538825781	chr5:17486582-17486583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113739801	chr5:17486587-17486588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575801755	chr5:17486602-17486603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577106190	chr5:17486615-17486616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544899718	chr5:17486627-17486628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556675506	chr5:17486633-17486634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184333451	chr5:17486637-17486638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148889903	chr5:17486650-17486651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186652850	chr5:17486664-17486665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191046548	chr5:17486669-17486670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528216140	chr5:17486719-17486720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544828833	chr5:17486734-17486735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78301965	chr5:17486737-17486738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565095819	chr5:17486740-17486741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183777913	chr5:17486744-17486745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112235265	chr5:17486752-17486753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78984736	chr5:17486753-17486754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76417696	chr5:17486754-17486755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77985297	chr5:17486755-17486756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76097656	chr5:17486779-17486780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61748308	chr5:17486783-17486784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61748309	chr5:17486788-17486789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201910172	chr5:17486824-17486825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546606995	chr5:17486839-17486840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200505938	chr5:17486841-17486842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541830986	chr5:17486847-17486848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191192792	chr5:17486848-17486849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552455649	chr5:17486879-17486880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569475891	chr5:17486880-17486881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538155264	chr5:17486900-17486901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555330932	chr5:17486952-17486953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575225484	chr5:17486977-17486978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17483000-17487000	Weak transcription	A549	lung
2	chr5:17486200-17487800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:17487000-17487600	Enhancers	A549	lung

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