Variant report

Variant	esv3352002
Chromosome Location	chr19:22660212-22665510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530016453	chr19:22661687-22661688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547713580	chr19:22661712-22661713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139654788	chr19:22661717-22661718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144347413	chr19:22661759-22661760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11879730	chr19:22661791-22661792	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35203450	chr19:22661835-22661836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146575060	chr19:22661843-22661844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571013651	chr19:22661994-22661995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536823094	chr19:22662074-22662075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140955031	chr19:22662096-22662097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs8109219	chr19:22662102-22662103	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181012294	chr19:22662119-22662120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185936065	chr19:22662133-22662134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374406509	chr19:22662134-22662135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569688471	chr19:22662165-22662166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188753631	chr19:22662166-22662167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs181080614	chr19:22662288-22662289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116389286	chr19:22662307-22662308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538751198	chr19:22662321-22662322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368546567	chr19:22662332-22662333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540518311	chr19:22662345-22662346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564974261	chr19:22662455-22662456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372889207	chr19:22662458-22662459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576953290	chr19:22662498-22662499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186122441	chr19:22662525-22662526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557838675	chr19:22662534-22662535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562616942	chr19:22662537-22662538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558581466	chr19:22662581-22662582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571078537	chr19:22662633-22662634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34865350	chr19:22662678-22662679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs139801974	chr19:22662679-22662680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142132627	chr19:22662680-22662681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72534203	chr19:22662681-22662682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs71180555	chr19:22662682-22662683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34110089	chr19:22662706-22662707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12609759	chr19:22662707-22662708	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560418998	chr19:22662728-22662729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574665207	chr19:22662735-22662736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575105693	chr19:22662759-22662760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149766225	chr19:22662778-22662779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114396653	chr19:22662785-22662786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371099045	chr19:22662911-22662912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190804666	chr19:22662917-22662918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570982790	chr19:22662921-22662922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531904002	chr19:22662956-22662957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183032975	chr19:22662965-22662966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs34328332	chr19:22662992-22662993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373086189	chr19:22662993-22662994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs151160790	chr19:22662998-22662999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs72534204	chr19:22662999-22663000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22661600-22662800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:22662800-22663600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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