Variant report

Variant	esv3470360
Chromosome Location	chr5:17474823-17480239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309

Extended variants
information (count: 205 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540018498	chr5:17475120-17475121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116061017	chr5:17475123-17475124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116343749	chr5:17475138-17475139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552094012	chr5:17475179-17475180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376856184	chr5:17475212-17475213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369872702	chr5:17475217-17475218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531625299	chr5:17475303-17475304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548649733	chr5:17475327-17475328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568428846	chr5:17475379-17475380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62348782	chr5:17475400-17475401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111970289	chr5:17475401-17475402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554029516	chr5:17475402-17475403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571068498	chr5:17475403-17475404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4701689	chr5:17475410-17475411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76139739	chr5:17475426-17475427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556946840	chr5:17475440-17475441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575293235	chr5:17475455-17475456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562735690	chr5:17475495-17475496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528477055	chr5:17475650-17475651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190529298	chr5:17475660-17475661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111468482	chr5:17475695-17475696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540326413	chr5:17475728-17475729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193234091	chr5:17475740-17475741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184541213	chr5:17475741-17475742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545670291	chr5:17475773-17475774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562476442	chr5:17475802-17475803	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531515681	chr5:17475808-17475809	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189424824	chr5:17475849-17475850	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143612104	chr5:17475929-17475930	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568443379	chr5:17475954-17475955	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527742109	chr5:17475982-17475983	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547908734	chr5:17475985-17475986	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180703143	chr5:17475987-17475988	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540069653	chr5:17475989-17475990	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556881797	chr5:17476012-17476013	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374265105	chr5:17476018-17476019	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556311231	chr5:17476024-17476025	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148636997	chr5:17476025-17476026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185717523	chr5:17476028-17476029	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142081856	chr5:17476033-17476034	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6877829	chr5:17476065-17476066	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533641038	chr5:17476085-17476086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530279619	chr5:17476088-17476089	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576612638	chr5:17476096-17476097	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4701690	chr5:17476113-17476114	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188539844	chr5:17476116-17476117	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576208262	chr5:17476135-17476136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369221573	chr5:17476144-17476145	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542113463	chr5:17476168-17476169	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150707799	chr5:17476204-17476205	Weak transcription Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17475000-17475800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17475800-17476200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:17475800-17476400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:17475800-17476400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:17476200-17478800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:17476400-17486200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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