Variant report

Variant	esv3367695
Chromosome Location	chr19:22653912-22660910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559002298	chr19:22654020-22654021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532790430	chr19:22654032-22654033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551325471	chr19:22654047-22654048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563447754	chr19:22654104-22654105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530789198	chr19:22654153-22654154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548996257	chr19:22654173-22654174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567500892	chr19:22654183-22654184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62118655	chr19:22654215-22654216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547134514	chr19:22654217-22654218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576542167	chr19:22654290-22654291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140215777	chr19:22654308-22654309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538664265	chr19:22654370-22654371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557274714	chr19:22654374-22654375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575547485	chr19:22654375-22654376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188221051	chr19:22654377-22654378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554827776	chr19:22654384-22654385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191772111	chr19:22654385-22654386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150050809	chr19:22654424-22654425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2361014	chr19:22654426-22654427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577279439	chr19:22654451-22654452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544684405	chr19:22654477-22654478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563334881	chr19:22654479-22654480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117922051	chr19:22654504-22654505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542934140	chr19:22654515-22654516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561136201	chr19:22654541-22654542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575912239	chr19:22654595-22654596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528310905	chr19:22654627-22654628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368039793	chr19:22654686-22654687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544429310	chr19:22654693-22654694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182956452	chr19:22654763-22654764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564708734	chr19:22654774-22654775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs386807942	chr19:22654776-22654777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117134602	chr19:22654777-22654778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569269853	chr19:22654778-22654779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs149190579	chr19:22654783-22654784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554864897	chr19:22654791-22654792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188016522	chr19:22654805-22654806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534137819	chr19:22654810-22654811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111290211	chr19:22654812-22654813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374823982	chr19:22654815-22654816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548621372	chr19:22654838-22654839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577307769	chr19:22654839-22654840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545121280	chr19:22654874-22654875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539984244	chr19:22654892-22654893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73924019	chr19:22654910-22654911	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112935907	chr19:22654933-22654934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575214275	chr19:22654939-22654940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77687506	chr19:22654944-22654945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557563428	chr19:22654945-22654946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528346054	chr19:22654959-22654960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22652000-22659800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:22652200-22656400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:22652200-22656400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:22652400-22656400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:22652400-22656600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:22652400-22657400	ZNF genes & repeats	Liver	Liver
7	chr19:22652600-22655000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:22652600-22655200	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:22652600-22656200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:22652600-22656400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:22652600-22656400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:22652800-22656000	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr19:22653000-22655000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr19:22655800-22656000	ZNF genes & repeats	Ovary	ovary

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