Variant report

Variant	esv3507448
Chromosome Location	chr19:21065524-21082151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 792 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62123220	chr19:21065537-21065538	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542969939	chr19:21065549-21065550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562655057	chr19:21065550-21065551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531575094	chr19:21065581-21065582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs193211185	chr19:21065592-21065593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62123226	chr19:21065593-21065594	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs527404189	chr19:21065610-21065611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547341451	chr19:21065614-21065615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73007032	chr19:21065649-21065650	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs68140009	chr19:21065685-21065686	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549308195	chr19:21065693-21065694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569108067	chr19:21065702-21065703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538391070	chr19:21065723-21065724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183906892	chr19:21065771-21065772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4808271	chr19:21065785-21065786	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187859223	chr19:21065790-21065791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4809117	chr19:21065807-21065808	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs117196293	chr19:21065824-21065825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1990967	chr19:21065829-21065830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562817254	chr19:21065835-21065836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192489492	chr19:21065839-21065840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545147925	chr19:21065870-21065871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560040475	chr19:21065925-21065926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567017014	chr19:21065938-21065939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117813019	chr19:21066019-21066020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527358724	chr19:21066020-21066021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147692863	chr19:21066038-21066039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560539231	chr19:21066045-21066046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142476744	chr19:21066047-21066048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549371438	chr19:21066164-21066165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146571883	chr19:21066176-21066177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184107533	chr19:21066183-21066184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551920349	chr19:21066187-21066188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555016279	chr19:21066234-21066235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138986487	chr19:21066277-21066278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534287135	chr19:21066285-21066286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12232851	chr19:21066292-21066293	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560207592	chr19:21066328-21066329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187281461	chr19:21066329-21066330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528918334	chr19:21066346-21066347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576252938	chr19:21066372-21066373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537927214	chr19:21066400-21066401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558017013	chr19:21066415-21066416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545003343	chr19:21066480-21066481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143022317	chr19:21066537-21066538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114368278	chr19:21066564-21066565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540723631	chr19:21066565-21066566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150157882	chr19:21066596-21066597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62123227	chr19:21066597-21066598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs138667005	chr19:21066625-21066626	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: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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