Variant report

Variant	esv1830159
Chromosome Location	chr19:37526193-37538491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 384 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192667376	chr19:37527220-37527221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140778225	chr19:37527251-37527252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs59430381	chr19:37527285-37527286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7245520	chr19:37527318-37527319	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs35522655	chr19:37527356-37527357	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112614261	chr19:37527368-37527369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369433786	chr19:37527369-37527370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553041783	chr19:37527432-37527433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574567544	chr19:37527471-37527472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73623598	chr19:37527626-37527627	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111994471	chr19:37527641-37527642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557214111	chr19:37527702-37527703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79136492	chr19:37527724-37527725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372781844	chr19:37527765-37527766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373698623	chr19:37527793-37527794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534331141	chr19:37527846-37527847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117454571	chr19:37527858-37527859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528523684	chr19:37527904-37527905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2891766	chr19:37527959-37527960	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs117174482	chr19:37527960-37527961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35656106	chr19:37527981-37527982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529594839	chr19:37528007-37528008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs114069156	chr19:37528031-37528032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs34136370	chr19:37528051-37528052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74174445	chr19:37528052-37528053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562758266	chr19:37528058-37528059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530507311	chr19:37528059-37528060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367709477	chr19:37528063-37528064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570113349	chr19:37528079-37528080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575097931	chr19:37528083-37528084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542034755	chr19:37528098-37528099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560769344	chr19:37528144-37528145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534363366	chr19:37528161-37528162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs111305822	chr19:37528166-37528167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs188249499	chr19:37528168-37528169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144688763	chr19:37528177-37528178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111901558	chr19:37528197-37528198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192257397	chr19:37528217-37528218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557175248	chr19:37528234-37528235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575534882	chr19:37528238-37528239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375219473	chr19:37528240-37528241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539936674	chr19:37528243-37528244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs28729635	chr19:37528260-37528261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141045443	chr19:37528262-37528263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573295526	chr19:37528295-37528296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150257190	chr19:37528322-37528323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562137519	chr19:37528378-37528379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574216778	chr19:37528380-37528381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371499551	chr19:37528386-37528387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200481705	chr19:37528394-37528395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37527200-37529800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37527800-37529200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37528200-37528600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:37528200-37528800	ZNF genes & repeats	Ovary	ovary
5	chr19:37529200-37529400	ZNF genes & repeats	Fetal Brain Male	brain
6	chr19:37529600-37529800	ZNF genes & repeats	Left Ventricle	heart
7	chr19:37529800-37535000	Weak transcription	Left Ventricle	heart
8	chr19:37535000-37535400	ZNF genes & repeats	Left Ventricle	heart
9	chr19:37535200-37538000	Weak transcription	Ovary	ovary
10	chr19:37535400-37538200	Weak transcription	Left Ventricle	heart
11	chr19:37538200-37538400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:37538200-37538400	ZNF genes & repeats	Left Ventricle	heart
13	chr19:37538400-37538600	Weak transcription	Left Ventricle	heart

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