Variant report

Variant	esv3356148
Chromosome Location	chr19:22135712-22139910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571982614	chr19:22135721-22135722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573678682	chr19:22135730-22135731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554176916	chr19:22135735-22135736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556399842	chr19:22135742-22135743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2666442	chr19:22135763-22135764	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs543074334	chr19:22135775-22135776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142063237	chr19:22138016-22138017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557597640	chr19:22138089-22138090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191448942	chr19:22138096-22138097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543000427	chr19:22138124-22138125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183296835	chr19:22138151-22138152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566659490	chr19:22138152-22138153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573591774	chr19:22138168-22138169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541041596	chr19:22138182-22138183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146657049	chr19:22138227-22138228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140726533	chr19:22138265-22138266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563190721	chr19:22138271-22138272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112136835	chr19:22138275-22138276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576631017	chr19:22138317-22138318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372093784	chr19:22138348-22138349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549041386	chr19:22138399-22138400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567565310	chr19:22138429-22138430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528348447	chr19:22138433-22138434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546977421	chr19:22138439-22138440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112558030	chr19:22138449-22138450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146629937	chr19:22138461-22138462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374783002	chr19:22138492-22138493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539176558	chr19:22138511-22138512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551094846	chr19:22138512-22138513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114618168	chr19:22138560-22138561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141070634	chr19:22138566-22138567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554834972	chr19:22138572-22138573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187049414	chr19:22138591-22138592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150243513	chr19:22138614-22138615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138811609	chr19:22138623-22138624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148942180	chr19:22138637-22138638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190805165	chr19:22138639-22138640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563027081	chr19:22138646-22138647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147041388	chr19:22138652-22138653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542830230	chr19:22138675-22138676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560874463	chr19:22138691-22138692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528396420	chr19:22138699-22138700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568237474	chr19:22138716-22138717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546907497	chr19:22138718-22138719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565328379	chr19:22138729-22138730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138257968	chr19:22138742-22138743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183400858	chr19:22138752-22138753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559073660	chr19:22138757-22138758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569351146	chr19:22138771-22138772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536300528	chr19:22138779-22138780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22134600-22135800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:22138000-22140400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:22139200-22144800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:22139400-22142600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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