Variant report

Variant	esv3318450
Chromosome Location	chr19:21088651-21091171
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	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535703921	chr19:21088679-21088680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555272643	chr19:21088685-21088686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146208933	chr19:21088700-21088701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569018518	chr19:21088735-21088736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537632117	chr19:21088745-21088746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372090645	chr19:21088746-21088747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377197969	chr19:21088763-21088764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577293342	chr19:21088768-21088769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539858373	chr19:21088772-21088773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553313213	chr19:21088778-21088779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543706266	chr19:21088781-21088782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186818157	chr19:21088808-21088809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542163522	chr19:21088809-21088810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs137950788	chr19:21088842-21088843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7249876	chr19:21088856-21088857	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs544455818	chr19:21088873-21088874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374016957	chr19:21088913-21088914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114667956	chr19:21088914-21088915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533429630	chr19:21089003-21089004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567793535	chr19:21089006-21089007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547022588	chr19:21089011-21089012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551582507	chr19:21089014-21089015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73020059	chr19:21089021-21089022	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373963559	chr19:21089050-21089051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114384849	chr19:21089065-21089066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549296757	chr19:21089107-21089108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536241802	chr19:21089138-21089139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111639072	chr19:21089300-21089301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569036454	chr19:21089334-21089335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538068969	chr19:21089349-21089350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73020060	chr19:21089355-21089356	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571020833	chr19:21089366-21089367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372840286	chr19:21089369-21089370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533596309	chr19:21089420-21089421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142347763	chr19:21089425-21089426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143851740	chr19:21089473-21089474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148612854	chr19:21089487-21089488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375991494	chr19:21089497-21089498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142442612	chr19:21089522-21089523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544804921	chr19:21089571-21089572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564628349	chr19:21089609-21089610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556529767	chr19:21089645-21089646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562202938	chr19:21089655-21089656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs578144732	chr19:21089705-21089706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540775245	chr19:21089711-21089712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560555321	chr19:21089716-21089717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529336400	chr19:21089730-21089731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200435119	chr19:21089757-21089758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549081685	chr19:21089773-21089774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562819830	chr19:21089774-21089775	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
3	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
4	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
5	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
6	chr19:21090400-21091000	Active TSS	Fetal Heart	heart

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