Variant report

Variant	esv3471631
Chromosome Location	chr5:8746409-8749976
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	chr15:63747394..63747975-chr5:8748090..8749028,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12656460	chr5:8748627-8748628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555245431	chr5:8748652-8748653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575054283	chr5:8748684-8748685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139388204	chr5:8748702-8748703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372147563	chr5:8748703-8748704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57928708	chr5:8748719-8748720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544433523	chr5:8748732-8748733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7701508	chr5:8748759-8748760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76962047	chr5:8748776-8748777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538694540	chr5:8748798-8748799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191955144	chr5:8748832-8748833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146351798	chr5:8748833-8748834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559667487	chr5:8748846-8748847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7719888	chr5:8748849-8748850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7718718	chr5:8748858-8748859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144467271	chr5:8748943-8748944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7719015	chr5:8748990-8748991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77229127	chr5:8749005-8749006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570432903	chr5:8749075-8749076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148400021	chr5:8749113-8749114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546399383	chr5:8749125-8749126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35869030	chr5:8749138-8749139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10072963	chr5:8749170-8749171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116522257	chr5:8749232-8749233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs156456	chr5:8749233-8749234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs156455	chr5:8749282-8749283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113104157	chr5:8749317-8749318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372545507	chr5:8749374-8749375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537619846	chr5:8749378-8749379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10434664	chr5:8749429-8749430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577775022	chr5:8749447-8749448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10434665	chr5:8749449-8749450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553509824	chr5:8749471-8749472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573236805	chr5:8749488-8749489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542284865	chr5:8749490-8749491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142726339	chr5:8749539-8749540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575922202	chr5:8749566-8749567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544464026	chr5:8749576-8749577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564673291	chr5:8749582-8749583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151016130	chr5:8749600-8749601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75685765	chr5:8749625-8749626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368555041	chr5:8749667-8749668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559855725	chr5:8749678-8749679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528852279	chr5:8749683-8749684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116395175	chr5:8749689-8749690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188530476	chr5:8749708-8749709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538107963	chr5:8749735-8749736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532139017	chr5:8749779-8749780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541065660	chr5:8749791-8749792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571376483	chr5:8749797-8749798	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8748600-8751000	Enhancers	Dnd41	blood
2	chr5:8749800-8750000	Enhancers	Aorta	Aorta

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