Variant report

Variant	esv10305
Chromosome Location	chr19:20056361-20059304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20048311..20052863-chr19:20053827..20056431,4	K562	blood:

Variant related genes	Relation type
ENSG00000268461	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554005686	chr19:20056380-20056381	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536351241	chr19:20056399-20056400	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180699523	chr19:20056421-20056422	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559489212	chr19:20056441-20056442	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs57920747	chr19:20056443-20056444	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562803624	chr19:20056456-20056457	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575915125	chr19:20056480-20056481	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544975286	chr19:20056540-20056541	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564567507	chr19:20056560-20056561	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527382909	chr19:20056606-20056607	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs59932376	chr19:20056625-20056626	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186040001	chr19:20056628-20056629	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs386807568	chr19:20056654-20056655	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs55700550	chr19:20056655-20056656	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs202104010	chr19:20056670-20056671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540996086	chr19:20056690-20056691	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189349435	chr19:20056743-20056744	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538188787	chr19:20056763-20056764	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551727577	chr19:20056769-20056770	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368512143	chr19:20056835-20056836	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534277646	chr19:20056867-20056868	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554317702	chr19:20056872-20056873	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527698171	chr19:20056887-20056888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573832875	chr19:20056950-20056951	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140771571	chr19:20056967-20056968	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181174214	chr19:20056972-20056973	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576265567	chr19:20056980-20056981	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545023161	chr19:20057006-20057007	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558121800	chr19:20057096-20057097	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149695005	chr19:20057132-20057133	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147759067	chr19:20057201-20057202	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185771924	chr19:20057202-20057203	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560675072	chr19:20057231-20057232	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528259523	chr19:20057341-20057342	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529429824	chr19:20057373-20057374	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543188663	chr19:20057374-20057375	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562966662	chr19:20057385-20057386	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532026653	chr19:20057400-20057401	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551826491	chr19:20057406-20057407	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560740213	chr19:20057451-20057452	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73530999	chr19:20057462-20057463	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116764190	chr19:20057491-20057492	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114409195	chr19:20057499-20057500	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567748342	chr19:20057532-20057533	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141146075	chr19:20057545-20057546	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs556321294	chr19:20057604-20057605	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563486489	chr19:20057652-20057653	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147104658	chr19:20057665-20057666	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532220527	chr19:20057699-20057700	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538886970	chr19:20057729-20057730	Enhancers 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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20055000-20057800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:20056200-20057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr19:20058200-20059200	ZNF genes & repeats	Dnd41	blood
4	chr19:20059200-20060400	Enhancers	Dnd41	blood

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