Variant report

Variant	esv1848134
Chromosome Location	chr19:21049520-21084070
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: 1687 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374346978	chr19:21049539-21049540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573894377	chr19:21049577-21049578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537505715	chr19:21049585-21049586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7248686	chr19:21049597-21049598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144855269	chr19:21049632-21049633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546222186	chr19:21049665-21049666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs56892523	chr19:21049716-21049717	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572756882	chr19:21049772-21049773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116809103	chr19:21049778-21049779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561968709	chr19:21049790-21049791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138767849	chr19:21049803-21049804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575118855	chr19:21049817-21049818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530957919	chr19:21049849-21049850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544246584	chr19:21049862-21049863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140332979	chr19:21049869-21049870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs117335224	chr19:21049875-21049876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532781765	chr19:21049910-21049911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs59954926	chr19:21049929-21049930	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs533207379	chr19:21049998-21049999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560191098	chr19:21050049-21050050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546835490	chr19:21050054-21050055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528753134	chr19:21050068-21050069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116590568	chr19:21050083-21050084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568639995	chr19:21050108-21050109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537675924	chr19:21050117-21050118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373409084	chr19:21050127-21050128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148006619	chr19:21050132-21050133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566712867	chr19:21050149-21050150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570974841	chr19:21050190-21050191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539554810	chr19:21050202-21050203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs553292557	chr19:21050233-21050234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567123665	chr19:21050261-21050262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572918451	chr19:21050278-21050279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73926488	chr19:21050308-21050309	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529592142	chr19:21050313-21050314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555270096	chr19:21050320-21050321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575081276	chr19:21050326-21050327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544435609	chr19:21050328-21050329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564022077	chr19:21050339-21050340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577619002	chr19:21050466-21050467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115695197	chr19:21050469-21050470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560153580	chr19:21050476-21050477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528916718	chr19:21050477-21050478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs548874898	chr19:21050488-21050489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35992754	chr19:21050510-21050511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150538239	chr19:21050581-21050582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370796741	chr19:21050597-21050598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs62123192	chr19:21050601-21050602	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs186844866	chr19:21050610-21050611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538266969	chr19:21050622-21050623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 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
8	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
11	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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