Variant report

Variant	esv3378132
Chromosome Location	chr19:52948240-52950088
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	chr19:52941897..52944459-chr19:52948865..52951747,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548343426	chr19:52948250-52948251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545311450	chr19:52948290-52948291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117391293	chr19:52948302-52948303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10408608	chr19:52948311-52948312	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551759922	chr19:52948325-52948326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs117656118	chr19:52948343-52948344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs2162793	chr19:52948365-52948366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528178431	chr19:52948395-52948396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149651080	chr19:52948427-52948428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201783738	chr19:52948449-52948450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149211217	chr19:52948451-52948452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs3054888	chr19:52948464-52948465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs397837157	chr19:52948467-52948468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571282478	chr19:52948492-52948493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112959002	chr19:52948510-52948511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538917202	chr19:52948511-52948512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191524230	chr19:52948520-52948521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2115103	chr19:52948538-52948539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77679237	chr19:52948596-52948597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79663936	chr19:52948597-52948598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76555800	chr19:52948601-52948602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2561014	chr19:52948639-52948640	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528265424	chr19:52948648-52948649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574031144	chr19:52948650-52948651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182216258	chr19:52948662-52948663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186646269	chr19:52948670-52948671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139065713	chr19:52948705-52948706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545293764	chr19:52948718-52948719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114403781	chr19:52948737-52948738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575859048	chr19:52948796-52948797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543161007	chr19:52948797-52948798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559200424	chr19:52950041-52950042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576986706	chr19:52950087-52950088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52943600-52948400	ZNF genes & repeats	Liver	Liver
2	chr19:52947200-52948800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:52950000-52950400	ZNF genes & repeats	Liver	Liver

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