Variant report

Variant	esv3318447
Chromosome Location	chr19:21087749-21089893
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: 104 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368602947	chr19:21087773-21087774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577072482	chr19:21087792-21087793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539672616	chr19:21087798-21087799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12973017	chr19:21087814-21087815	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs573114123	chr19:21087825-21087826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541781537	chr19:21087830-21087831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561852091	chr19:21087834-21087835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542029709	chr19:21087851-21087852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs117073953	chr19:21087876-21087877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73020056	chr19:21087890-21087891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114251858	chr19:21087933-21087934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140860759	chr19:21087934-21087935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12971543	chr19:21087940-21087941	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs73927837	chr19:21087965-21087966	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559604754	chr19:21087975-21087976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73020057	chr19:21087979-21087980	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548347810	chr19:21088037-21088038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568477945	chr19:21088109-21088110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530994792	chr19:21088113-21088114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372951693	chr19:21088192-21088193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372456261	chr19:21088195-21088196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550703441	chr19:21088238-21088239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570870781	chr19:21088241-21088242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539832483	chr19:21088242-21088243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553336928	chr19:21088248-21088249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566748702	chr19:21088309-21088310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535667788	chr19:21088320-21088321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555563397	chr19:21088322-21088323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116616812	chr19:21088342-21088343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114116649	chr19:21088343-21088344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547462515	chr19:21088368-21088369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560801766	chr19:21088429-21088430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577602829	chr19:21088442-21088443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528906178	chr19:21088444-21088445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182139398	chr19:21088451-21088452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559642686	chr19:21088478-21088479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528727553	chr19:21088484-21088485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542028736	chr19:21088490-21088491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112038406	chr19:21088504-21088505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369369804	chr19:21088536-21088537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113861826	chr19:21088545-21088546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551095365	chr19:21088587-21088588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141759463	chr19:21088600-21088601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533391572	chr19:21088605-21088606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115922452	chr19:21088622-21088623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566787217	chr19:21088646-21088647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535703921	chr19:21088679-21088680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555272643	chr19:21088685-21088686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146208933	chr19:21088700-21088701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569018518	chr19:21088735-21088736	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
2	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
4	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
5	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver

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