Variant report

Variant	esv3470343
Chromosome Location	chr5:8234221-8235461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556090572	chr5:8234311-8234312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576161495	chr5:8234343-8234344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112799721	chr5:8234428-8234429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34623980	chr5:8234429-8234430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200039772	chr5:8234441-8234442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199940383	chr5:8234442-8234443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13160965	chr5:8234451-8234452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544857508	chr5:8234457-8234458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148616255	chr5:8234477-8234478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1506112	chr5:8234514-8234515	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540669755	chr5:8234537-8234538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563570954	chr5:8234542-8234543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560480150	chr5:8234544-8234545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75116826	chr5:8234545-8234546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75674724	chr5:8234546-8234547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562956410	chr5:8234566-8234567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539461493	chr5:8234639-8234640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531968109	chr5:8234644-8234645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376154813	chr5:8234676-8234677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551538994	chr5:8234690-8234691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369378872	chr5:8234723-8234724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114799374	chr5:8234837-8234838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76790480	chr5:8234882-8234883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116476602	chr5:8234904-8234905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142081479	chr5:8234946-8234947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11743713	chr5:8234956-8234957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73738094	chr5:8234979-8234980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576032653	chr5:8235023-8235024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538881520	chr5:8235061-8235062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185211424	chr5:8235121-8235122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10054474	chr5:8235175-8235176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs151138020	chr5:8235203-8235204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117782942	chr5:8235219-8235220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191542348	chr5:8235265-8235266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181233020	chr5:8235274-8235275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114119444	chr5:8235390-8235391	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8233800-8234800	Weak transcription	Fetal Kidney	kidney
2	chr5:8234200-8235000	Enhancers	Fetal Intestine Small	intestine
3	chr5:8234800-8235200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:8234800-8235400	Enhancers	Fetal Kidney	kidney

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