Variant report

Variant	esv3361385
Chromosome Location	chr19:21052081-21060609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:
2	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:

Extended variants
information (count: 445 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536327501	chr19:21052088-21052089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140454006	chr19:21052097-21052098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150347477	chr19:21052106-21052107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11668994	chr19:21052126-21052127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368997698	chr19:21052144-21052145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558425693	chr19:21052145-21052146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73535110	chr19:21052152-21052153	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185471603	chr19:21052191-21052192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560276894	chr19:21052222-21052223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7258122	chr19:21052232-21052233	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs542688558	chr19:21052266-21052267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs71694172	chr19:21052367-21052368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562873792	chr19:21052372-21052373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531719112	chr19:21052376-21052377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144978833	chr19:21052396-21052397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565293266	chr19:21052424-21052425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527552297	chr19:21052427-21052428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547737787	chr19:21052429-21052430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189220469	chr19:21052446-21052447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7246544	chr19:21052454-21052455	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs149086311	chr19:21052471-21052472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569697969	chr19:21052484-21052485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538730874	chr19:21052485-21052486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558226486	chr19:21052488-21052489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571724918	chr19:21052498-21052499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534193268	chr19:21052547-21052548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62123197	chr19:21052558-21052559	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs143063003	chr19:21052561-21052562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542889928	chr19:21052621-21052622	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562993312	chr19:21052632-21052633	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112790763	chr19:21052638-21052639	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10404578	chr19:21052644-21052645	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565252500	chr19:21052655-21052656	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549521763	chr19:21052695-21052696	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11881037	chr19:21052705-21052706	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200100419	chr19:21052755-21052756	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547699496	chr19:21052763-21052764	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370712985	chr19:21052776-21052777	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183491108	chr19:21052782-21052783	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117425062	chr19:21052783-21052784	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569841188	chr19:21052788-21052789	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375391774	chr19:21052816-21052817	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142687997	chr19:21052848-21052849	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552270534	chr19:21052853-21052854	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565314973	chr19:21052855-21052856	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2161462	chr19:21052862-21052863	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs370329134	chr19:21052894-21052895	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146937625	chr19:21052907-21052908	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188175276	chr19:21052910-21052911	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371529279	chr19:21052914-21052915	ZNF genes & repeats Active TSS	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:7 , 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	chr19:21049800-21052800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
3	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:21052600-21052800	ZNF genes & repeats	Aorta	Aorta
5	chr19:21052600-21053200	Active TSS	Fetal Heart	heart
6	chr19:21052600-21053200	ZNF genes & repeats	Spleen	Spleen
7	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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