Variant report

Variant	esv3470537
Chromosome Location	chr5:80685452-80686683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377736367	chr5:80685478-80685479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6452405	chr5:80685484-80685485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189353456	chr5:80685495-80685496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150724137	chr5:80685536-80685537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181694333	chr5:80685547-80685548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564762379	chr5:80685577-80685578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530504529	chr5:80685584-80685585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2162974	chr5:80685611-80685612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563988543	chr5:80685657-80685658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60881437	chr5:80685734-80685735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77331140	chr5:80685760-80685761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34623194	chr5:80685775-80685776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79197860	chr5:80685790-80685791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76957640	chr5:80685792-80685793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369072168	chr5:80685831-80685832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13181700	chr5:80685849-80685850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13181989	chr5:80685859-80685860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13181707	chr5:80685865-80685866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76645547	chr5:80685895-80685896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191081648	chr5:80685923-80685924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551834009	chr5:80685932-80685933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571577445	chr5:80685991-80685992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13185752	chr5:80686018-80686019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557035267	chr5:80686020-80686021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183393672	chr5:80686026-80686027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573603598	chr5:80686058-80686059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185754952	chr5:80686270-80686271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13186206	chr5:80686300-80686301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572686639	chr5:80686304-80686305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200024460	chr5:80686346-80686347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56338608	chr5:80686357-80686358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540379871	chr5:80686385-80686386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544805468	chr5:80686392-80686393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565013890	chr5:80686401-80686402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372945605	chr5:80686468-80686469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575217645	chr5:80686481-80686482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544203700	chr5:80686482-80686483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369664106	chr5:80686484-80686485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560818899	chr5:80686498-80686499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554129658	chr5:80686524-80686525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577172121	chr5:80686556-80686557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75843188	chr5:80686586-80686587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549688863	chr5:80686620-80686621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560020155	chr5:80686633-80686634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528661911	chr5:80686661-80686662	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80683200-80686600	Weak transcription	Liver	Liver
2	chr5:80686600-80687400	Enhancers	Liver	Liver

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