Variant report

Variant	esv3339079
Chromosome Location	chr5:52988145-52989743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52987183..52989116-chr5:52991763..52994234,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369256066	chr5:52988235-52988236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567213685	chr5:52988246-52988247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148102915	chr5:52988263-52988264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576034171	chr5:52988266-52988267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543668952	chr5:52988332-52988333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111306502	chr5:52988333-52988334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72753691	chr5:52988337-52988338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193261858	chr5:52988349-52988350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12654088	chr5:52988382-52988383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527426935	chr5:52988389-52988390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542359816	chr5:52988396-52988397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117408169	chr5:52988398-52988399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534146730	chr5:52988426-52988427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146235491	chr5:52988431-52988432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144818887	chr5:52988440-52988441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200434644	chr5:52988477-52988478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369059937	chr5:52988479-52988480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6881928	chr5:52988609-52988610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79580300	chr5:52988692-52988693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74745806	chr5:52988693-52988694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183526928	chr5:52988729-52988730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113535289	chr5:52988771-52988772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201808189	chr5:52988832-52988833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13358676	chr5:52988861-52988862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180971784	chr5:52988920-52988921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183903087	chr5:52988928-52988929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113093049	chr5:52988933-52988934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545092012	chr5:52988940-52988941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547674362	chr5:52988941-52988942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7707906	chr5:52988949-52988950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7707907	chr5:52988951-52988952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190039439	chr5:52988993-52988994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs70983376	chr5:52989108-52989109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398108927	chr5:52989118-52989119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201037217	chr5:52989119-52989120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536705824	chr5:52989198-52989199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13173998	chr5:52989238-52989239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2607502	chr5:52989267-52989268	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181700265	chr5:52989299-52989300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537071330	chr5:52989305-52989306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187017650	chr5:52989340-52989341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs72753692	chr5:52989419-52989420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534901008	chr5:52989438-52989439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2637026	chr5:52989445-52989446	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs181979422	chr5:52989486-52989487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2607501	chr5:52989545-52989546	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142595436	chr5:52989590-52989591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75573058	chr5:52989609-52989610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551181445	chr5:52989624-52989625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139662483	chr5:52989630-52989631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52961800-52989200	Weak transcription	Ovary	ovary
2	chr5:52989200-52989400	ZNF genes & repeats	Ovary	ovary
3	chr5:52989200-52991600	ZNF genes & repeats	Liver	Liver
4	chr5:52989400-52991400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:52989600-52991000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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