Variant report

Variant	esv3494424
Chromosome Location	chr5:28641527-28676626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
2	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
3	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
4	chr5:28665183..28667336-chr5:28683760..28686377,2	K562	blood:
5	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538528987	chr5:28648230-28648231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556588105	chr5:28648292-28648293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563025415	chr5:28648379-28648380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545089312	chr5:28648383-28648384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184660273	chr5:28648387-28648388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187846344	chr5:28648396-28648397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572187821	chr5:28648430-28648431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542762168	chr5:28648434-28648435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560742521	chr5:28648496-28648497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6450656	chr5:28648576-28648577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543652968	chr5:28648577-28648578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201142874	chr5:28648585-28648586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192376470	chr5:28648586-28648587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532095900	chr5:28648588-28648589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557824119	chr5:28667829-28667830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141927198	chr5:28667833-28667834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190264612	chr5:28667862-28667863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2059187	chr5:28667865-28667866	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542803848	chr5:28667879-28667880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573834309	chr5:28667886-28667887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192547204	chr5:28667906-28667907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543983167	chr5:28667908-28667909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562390698	chr5:28667919-28667920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567349158	chr5:28667991-28667992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113041323	chr5:28667993-28667994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577506933	chr5:28668052-28668053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373690368	chr5:28668092-28668093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372639540	chr5:28668111-28668112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376280876	chr5:28668158-28668159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370693297	chr5:28668224-28668225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564515326	chr5:28668237-28668238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2059186	chr5:28668270-28668271	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545602033	chr5:28668319-28668320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184982627	chr5:28668409-28668410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560942772	chr5:28668410-28668411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188025020	chr5:28668418-28668419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146207357	chr5:28668431-28668432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535216519	chr5:28668474-28668475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180974542	chr5:28668514-28668515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs6896498	chr5:28668521-28668522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546083494	chr5:28668563-28668564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189513153	chr5:28668567-28668568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113337495	chr5:28668600-28668601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534184166	chr5:28668666-28668667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147858073	chr5:28668671-28668672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559358383	chr5:28668691-28668692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6896706	chr5:28668711-28668712	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537990066	chr5:28668726-28668727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs6897140	chr5:28668772-28668773	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563318998	chr5:28668779-28668780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28648200-28648600	Enhancers	NH-A	brain
2	chr5:28667800-28669000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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