Variant report

Variant	esv3397350
Chromosome Location	chr19:21068619-21074342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 280 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557253813	chr19:21068623-21068624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577410193	chr19:21068639-21068640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191780240	chr19:21068685-21068686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11879744	chr19:21068706-21068707	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551518287	chr19:21068759-21068760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571327355	chr19:21068845-21068846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs137971829	chr19:21068875-21068876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201695856	chr19:21068893-21068894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs541787822	chr19:21068915-21068916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs28432685	chr19:21068936-21068937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561769914	chr19:21068954-21068955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62123229	chr19:21068984-21068985	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs62123230	chr19:21068990-21068991	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs142579906	chr19:21069002-21069003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570550468	chr19:21069007-21069008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12232811	chr19:21069064-21069065	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546825501	chr19:21069066-21069067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566538308	chr19:21069076-21069077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573919348	chr19:21069079-21069080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535564167	chr19:21069089-21069090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs11879840	chr19:21069090-21069091	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs568866920	chr19:21069106-21069107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12232812	chr19:21069125-21069126	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184021801	chr19:21069178-21069179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111506902	chr19:21069186-21069187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557685021	chr19:21069224-21069225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577473506	chr19:21069240-21069241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78025292	chr19:21069255-21069256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575259578	chr19:21069270-21069271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553168228	chr19:21069282-21069283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373861717	chr19:21069288-21069289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541949231	chr19:21069298-21069299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149244897	chr19:21069303-21069304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12232869	chr19:21069334-21069335	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371323021	chr19:21069369-21069370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564365227	chr19:21069395-21069396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533091034	chr19:21069424-21069425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144464334	chr19:21069432-21069433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188917386	chr19:21069454-21069455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12232827	chr19:21069460-21069461	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189761415	chr19:21069477-21069478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549137845	chr19:21069519-21069520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12104419	chr19:21069531-21069532	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569582722	chr19:21069540-21069541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531804904	chr19:21069545-21069546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115015350	chr19:21069555-21069556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528589066	chr19:21069567-21069568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539767272	chr19:21069601-21069602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112040548	chr19:21069614-21069615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577999200	chr19:21069616-21069617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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

Chromatin state (count:5 , 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

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