Variant report

Variant	esv1818863
Chromosome Location	chr5:5106180-5109824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16874709	chr5:5106180-5106181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528566173	chr5:5106184-5106185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548520967	chr5:5106201-5106202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568636403	chr5:5106217-5106218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370248812	chr5:5106269-5106270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13354897	chr5:5106305-5106306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143499350	chr5:5106323-5106324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571150155	chr5:5106325-5106326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189882743	chr5:5106352-5106353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146712738	chr5:5106376-5106377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571555067	chr5:5106387-5106388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376542219	chr5:5106390-5106391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371057653	chr5:5106395-5106396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191601334	chr5:5108059-5108060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372339852	chr5:5108065-5108066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181689775	chr5:5108112-5108113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs270627	chr5:5108129-5108130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533618016	chr5:5108139-5108140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531952438	chr5:5108185-5108186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16874713	chr5:5108215-5108216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546011389	chr5:5108235-5108236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187107185	chr5:5108249-5108250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77935336	chr5:5108252-5108253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76660559	chr5:5108254-5108255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376594994	chr5:5108277-5108278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77338680	chr5:5108394-5108395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57546252	chr5:5108413-5108414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576493344	chr5:5108414-5108415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550605482	chr5:5108442-5108443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543506747	chr5:5108488-5108489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570451147	chr5:5108509-5108510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539660507	chr5:5108513-5108514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565303848	chr5:5108518-5108519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34948001	chr5:5108529-5108530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10042128	chr5:5108554-5108555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566793706	chr5:5108558-5108559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191890183	chr5:5108584-5108585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140917303	chr5:5108592-5108593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575661311	chr5:5108611-5108612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544612202	chr5:5108627-5108628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558269827	chr5:5108648-5108649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187954270	chr5:5108710-5108711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540853362	chr5:5108730-5108731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560456891	chr5:5108736-5108737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541420150	chr5:5108742-5108743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138595477	chr5:5108773-5108774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115880767	chr5:5108783-5108784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565045972	chr5:5108822-5108823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561351117	chr5:5108826-5108827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530469787	chr5:5108847-5108848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
Pleomorphic liposarcoma	18784837	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
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5104400-5106400	Enhancers	HMEC	breast
2	chr5:5105200-5106400	Enhancers	HSMM	muscle
3	chr5:5105800-5106400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:5106000-5106200	Enhancers	NHEK	skin
5	chr5:5108000-5108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:5108000-5108600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:5108200-5115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:5108400-5108800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:5108400-5109000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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