Variant report

Variant	esv3337312
Chromosome Location	chr19:22656112-22660910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2905575	chr19:22656127-22656128	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554690449	chr19:22656142-22656143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184946045	chr19:22656148-22656149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533740731	chr19:22656170-22656171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs10413218	chr19:22656186-22656187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577025705	chr19:22656198-22656199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544401518	chr19:22656304-22656305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79542994	chr19:22656318-22656319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574285759	chr19:22656329-22656330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189843638	chr19:22656416-22656417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369140587	chr19:22656420-22656421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559782320	chr19:22656429-22656430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560182935	chr19:22656454-22656455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527691417	chr19:22656466-22656467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552110268	chr19:22656507-22656508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564804102	chr19:22656535-22656536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138166012	chr19:22656594-22656595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201263389	chr19:22656595-22656596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531959462	chr19:22656605-22656606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs181640151	chr19:22656622-22656623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35755806	chr19:22656627-22656628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs8103364	chr19:22656630-22656631	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs8102727	chr19:22656631-22656632	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548328139	chr19:22656762-22656763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542212747	chr19:22656766-22656767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs8102770	chr19:22656799-22656800	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533780306	chr19:22656800-22656801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558222586	chr19:22656826-22656827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539982589	chr19:22656836-22656837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570427559	chr19:22656859-22656860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537793686	chr19:22656878-22656879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556409164	chr19:22656893-22656894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184281949	chr19:22656916-22656917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541588451	chr19:22656928-22656929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs8103723	chr19:22656929-22656930	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572158867	chr19:22656939-22656940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7249653	chr19:22656950-22656951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77120761	chr19:22656989-22656990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564361871	chr19:22657014-22657015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528751437	chr19:22657050-22657051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201681024	chr19:22657051-22657052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368425004	chr19:22657095-22657096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143971182	chr19:22657107-22657108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181795040	chr19:22657128-22657129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186102994	chr19:22657132-22657133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138710781	chr19:22657149-22657150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368893487	chr19:22657192-22657193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547971695	chr19:22657193-22657194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566577008	chr19:22657205-22657206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527432078	chr19:22657225-22657226	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:9 , 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	chr19:22652600-22656200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:22652600-22656400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:22652600-22656400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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