Variant report

Variant	esv3501468
Chromosome Location	chr19:22062527-22089264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF257-1	chr19:22085706-22085729	XLOC_013010

Extended variants
information (count: 143 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2457775	chr19:22066809-22066810	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182775859	chr19:22066831-22066832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550662695	chr19:22066843-22066844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535661965	chr19:22066859-22066860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs148953513	chr19:22066880-22066881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187463690	chr19:22066881-22066882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143677444	chr19:22066884-22066885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192307780	chr19:22066888-22066889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375458480	chr19:22066889-22066890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185536644	chr19:22066897-22066898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190437785	chr19:22066903-22066904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542864037	chr19:22066919-22066920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561029730	chr19:22066927-22066928	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10405083	chr19:22066946-22066947	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540473491	chr19:22066972-22066973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2435020	chr19:22066983-22066984	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532525790	chr19:22066984-22066985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550828287	chr19:22066994-22066995	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569310677	chr19:22067015-22067016	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150331840	chr19:22067078-22067079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550336106	chr19:22067080-22067081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376510572	chr19:22067081-22067082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376674657	chr19:22067082-22067083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2435019	chr19:22067097-22067098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12459361	chr19:22067123-22067124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12461418	chr19:22067139-22067140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10404329	chr19:22067155-22067156	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577176304	chr19:22067161-22067162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372593534	chr19:22067193-22067194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566680930	chr19:22067227-22067228	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546132022	chr19:22067253-22067254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534270847	chr19:22067261-22067262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559194929	chr19:22067309-22067310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377030643	chr19:22067312-22067313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140430158	chr19:22067334-22067335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538608696	chr19:22067344-22067345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559638692	chr19:22067362-22067363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145527207	chr19:22067365-22067366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575425443	chr19:22067374-22067375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573070504	chr19:22067398-22067399	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542004620	chr19:22067401-22067402	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138116697	chr19:22067419-22067420	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142592967	chr19:22067427-22067428	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10409887	chr19:22067439-22067440	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540196418	chr19:22067448-22067449	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs193110544	chr19:22067484-22067485	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550692565	chr19:22067515-22067516	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532426917	chr19:22067522-22067523	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112822328	chr19:22067528-22067529	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544613675	chr19:22067529-22067530	Flanking Active TSS	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
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	chr19:22066800-22067400	Active TSS	Ovary	ovary
2	chr19:22067400-22067600	Flanking Active TSS	Ovary	ovary
3	chr19:22074200-22075000	Enhancers	Placenta	Placenta
4	chr19:22082800-22084000	Enhancers	Placenta	Placenta

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