Variant report

Variant	esv1009911
Chromosome Location	chr5:43918274-43929639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 483 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574992486	chr5:43918285-43918286	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529087582	chr5:43918316-43918317	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs13184580	chr5:43918326-43918327	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181836598	chr5:43918341-43918342	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528201159	chr5:43918365-43918366	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551047425	chr5:43918388-43918389	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564780158	chr5:43918389-43918390	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184382252	chr5:43918391-43918392	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113304019	chr5:43918394-43918395	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146968386	chr5:43918541-43918542	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180843573	chr5:43918557-43918558	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78686212	chr5:43918560-43918561	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77447444	chr5:43918567-43918568	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536124934	chr5:43918570-43918571	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138011013	chr5:43918608-43918609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112020948	chr5:43918612-43918613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533227731	chr5:43918615-43918616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186676924	chr5:43918619-43918620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566852964	chr5:43918627-43918628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551687493	chr5:43918635-43918636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539174320	chr5:43918636-43918637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189496027	chr5:43918640-43918641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575600744	chr5:43918647-43918648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538441633	chr5:43918670-43918671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532576323	chr5:43918692-43918693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112791932	chr5:43918705-43918706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371430563	chr5:43918710-43918711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575099599	chr5:43918736-43918737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181583467	chr5:43918737-43918738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141737825	chr5:43918741-43918742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150130535	chr5:43918780-43918781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544753862	chr5:43918784-43918785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs564997345	chr5:43918841-43918842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530484505	chr5:43918866-43918867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185746766	chr5:43918873-43918874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375709486	chr5:43918884-43918885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567712194	chr5:43918886-43918887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190897668	chr5:43918927-43918928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375194372	chr5:43918947-43918948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530048169	chr5:43918963-43918964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183099576	chr5:43918982-43918983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566917952	chr5:43918984-43918985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368048589	chr5:43919030-43919031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552563238	chr5:43919072-43919073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560935949	chr5:43919165-43919166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553125093	chr5:43919191-43919192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569348988	chr5:43919194-43919195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138656322	chr5:43919212-43919213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187159213	chr5:43919217-43919218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568546534	chr5:43919296-43919297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43918000-43918400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:43918200-43918600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43918200-43921800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:43921800-43922600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:43922600-43923000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:43923000-43923200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:43923200-43924200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:43924200-43925200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:43925200-43926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:43926800-43927000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:43926800-43927600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:43926800-43927600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:43926800-43928000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:43927200-43927800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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