Variant report

Variant	esv18467
Chromosome Location	chr5:8255770-8260730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144885774	chr5:8255788-8255789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545654924	chr5:8255898-8255899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115797532	chr5:8255948-8255949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368565516	chr5:8255951-8255952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559272092	chr5:8255957-8255958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572104743	chr5:8255978-8255979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200618662	chr5:8256002-8256003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79519589	chr5:8256011-8256012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541016831	chr5:8256012-8256013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74694711	chr5:8256013-8256014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78438084	chr5:8256015-8256016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373242317	chr5:8256017-8256018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561141462	chr5:8256042-8256043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532624754	chr5:8256043-8256044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114363965	chr5:8256055-8256056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538460009	chr5:8256088-8256089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184881374	chr5:8256101-8256102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375527058	chr5:8256133-8256134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532188432	chr5:8256186-8256187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552481570	chr5:8256197-8256198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559216317	chr5:8256245-8256246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527724415	chr5:8256253-8256254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547338093	chr5:8256256-8256257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115264096	chr5:8256266-8256267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187805483	chr5:8256334-8256335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550128625	chr5:8256382-8256383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530346863	chr5:8256395-8256396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570258357	chr5:8256407-8256408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538841002	chr5:8256412-8256413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2892593	chr5:8256414-8256415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559332884	chr5:8256430-8256431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572732149	chr5:8256442-8256443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534610892	chr5:8256476-8256477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548425444	chr5:8256541-8256542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201990503	chr5:8256582-8256583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569556639	chr5:8256602-8256603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114669328	chr5:8256606-8256607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543534738	chr5:8256622-8256623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537037610	chr5:8256628-8256629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377465316	chr5:8256634-8256635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371011514	chr5:8256647-8256648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1601901	chr5:8256698-8256699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs193167087	chr5:8256735-8256736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184390088	chr5:8256741-8256742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528326418	chr5:8256795-8256796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78567252	chr5:8256826-8256827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74405576	chr5:8256827-8256828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201141099	chr5:8256829-8256830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547401400	chr5:8256840-8256841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141176085	chr5:8256859-8256860	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8255000-8258600	Weak transcription	Psoas Muscle	Psoas
2	chr5:8258800-8259400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:8258800-8259400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:8258800-8259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:8258800-8259800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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