Variant report

Variant	esv3398599
Chromosome Location	chr19:21069562-21083473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 630 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528589066	chr19:21069567-21069568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539767272	chr19:21069601-21069602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112040548	chr19:21069614-21069615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577999200	chr19:21069616-21069617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114649511	chr19:21069625-21069626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555395009	chr19:21069731-21069732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182165332	chr19:21069765-21069766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142951549	chr19:21069786-21069787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564345043	chr19:21069808-21069809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs66889224	chr19:21069815-21069816	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186824685	chr19:21069824-21069825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147332043	chr19:21069882-21069883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140883959	chr19:21069886-21069887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549205322	chr19:21069924-21069925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115854645	chr19:21069965-21069966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531324108	chr19:21070009-21070010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551331553	chr19:21070013-21070014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571184917	chr19:21070028-21070029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539730387	chr19:21070049-21070050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191622546	chr19:21070152-21070153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117744244	chr19:21070167-21070168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144858312	chr19:21070171-21070172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555698515	chr19:21070190-21070191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575664798	chr19:21070197-21070198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184334009	chr19:21070206-21070207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374704947	chr19:21070215-21070216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200622674	chr19:21070230-21070231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558114850	chr19:21070242-21070243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs578098485	chr19:21070272-21070273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188616915	chr19:21070277-21070278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554064434	chr19:21070285-21070286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62123231	chr19:21070288-21070289	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs542810879	chr19:21070305-21070306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562565566	chr19:21070307-21070308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140522003	chr19:21070322-21070323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149980231	chr19:21070323-21070324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192967650	chr19:21070371-21070372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370106739	chr19:21070401-21070402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549388198	chr19:21070407-21070408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145153108	chr19:21070408-21070409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112355824	chr19:21070434-21070435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10406658	chr19:21070437-21070438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79024237	chr19:21070460-21070461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566788942	chr19:21070464-21070465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563146317	chr19:21070483-21070484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149138604	chr19:21070494-21070495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185591264	chr19:21070495-21070496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531344036	chr19:21070532-21070533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145525468	chr19:21070556-21070557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs372494341	chr19:21070572-21070573	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
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
3	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
4	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
5	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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