Variant report

Variant	esv3318758
Chromosome Location	chr19:22526912-22531510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114424728	chr19:22527825-22527826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140649020	chr19:22527862-22527863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571548209	chr19:22527864-22527865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191457879	chr19:22527883-22527884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150432739	chr19:22527889-22527890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575961139	chr19:22527894-22527895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138185379	chr19:22527923-22527924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543363091	chr19:22527925-22527926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554851286	chr19:22528013-22528014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183246065	chr19:22528047-22528048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs76178426	chr19:22528048-22528049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559442776	chr19:22528071-22528072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553184738	chr19:22528073-22528074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544559568	chr19:22528075-22528076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562968302	chr19:22528095-22528096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75048752	chr19:22528114-22528115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549292516	chr19:22528116-22528117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117562289	chr19:22528148-22528149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs56968102	chr19:22528150-22528151	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142654687	chr19:22528175-22528176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546765559	chr19:22528180-22528181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141236800	chr19:22529039-22529040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568345670	chr19:22529041-22529042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375231413	chr19:22529059-22529060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567109007	chr19:22529062-22529063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537315558	chr19:22529084-22529085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs386807929	chr19:22529104-22529105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73923837	chr19:22529105-22529106	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577058609	chr19:22529106-22529107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73923838	chr19:22529138-22529139	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73923839	chr19:22529162-22529163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538322741	chr19:22529169-22529170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539660391	chr19:22529208-22529209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs386807930	chr19:22529214-22529215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374735122	chr19:22529221-22529222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566810610	chr19:22529228-22529229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77378465	chr19:22529232-22529233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574882462	chr19:22529233-22529234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548877589	chr19:22529247-22529248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs572532341	chr19:22529270-22529271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542566007	chr19:22529290-22529291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150746090	chr19:22529297-22529298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534694584	chr19:22529334-22529335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374678268	chr19:22529342-22529343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35312710	chr19:22529361-22529362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73923840	chr19:22529363-22529364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573064755	chr19:22529374-22529375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs139092327	chr19:22529409-22529410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565056212	chr19:22529416-22529417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532395651	chr19:22529484-22529485	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22527800-22528200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22529000-22530200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:22529000-22530200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:22529200-22529800	ZNF genes & repeats	Pancreas	Pancrea

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