Variant report

Variant	esv3442354
Chromosome Location	chr5:59444795-59446943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142071752	chr5:59444962-59444963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377367760	chr5:59444975-59444976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75924276	chr5:59445023-59445024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190695655	chr5:59445043-59445044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548800982	chr5:59445088-59445089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs142037949	chr5:59445094-59445095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535241882	chr5:59445096-59445097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370719832	chr5:59445101-59445102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547988950	chr5:59445120-59445121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs983280	chr5:59445137-59445138	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542771692	chr5:59445181-59445182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs983279	chr5:59445201-59445202	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181648622	chr5:59445207-59445208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77695714	chr5:59445280-59445281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116734898	chr5:59445306-59445307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187114328	chr5:59445340-59445341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541207261	chr5:59445347-59445348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560778902	chr5:59445348-59445349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188514447	chr5:59445356-59445357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs181355974	chr5:59445369-59445370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569672900	chr5:59445411-59445412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34775488	chr5:59445442-59445443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571648431	chr5:59445525-59445526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35624681	chr5:59445643-59445644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58203101	chr5:59445664-59445665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140112763	chr5:59445709-59445710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185489892	chr5:59445717-59445718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530661107	chr5:59445732-59445733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566377573	chr5:59445736-59445737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535040723	chr5:59445858-59445859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564235008	chr5:59445889-59445890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569377207	chr5:59445894-59445895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552177672	chr5:59445896-59445897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548778083	chr5:59445980-59445981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568716064	chr5:59445998-59445999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34885301	chr5:59446045-59446046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536313202	chr5:59446049-59446050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35259462	chr5:59446052-59446053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556296253	chr5:59446070-59446071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151153224	chr5:59446101-59446102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373447069	chr5:59446119-59446120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140600903	chr5:59446125-59446126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572285783	chr5:59446333-59446334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189562723	chr5:59446369-59446370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560736851	chr5:59446381-59446382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574299431	chr5:59446395-59446396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373661165	chr5:59446407-59446408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77945615	chr5:59446408-59446409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543462874	chr5:59446409-59446410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78548532	chr5:59446415-59446416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59427400-59447400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59443400-59445400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr5:59444200-59444800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:59444400-59444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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