Variant report

Variant	esv3372460
Chromosome Location	chr19:43166654-43168107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:
2	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:
3	chr19:43167897..43169449-chr19:43169988..43172834,2	MCF-7	breast:
4	chr19:43110921..43111495-chr19:43166501..43167328,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144904900	chr19:43166662-43166663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576833102	chr19:43166682-43166683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545854654	chr19:43166703-43166704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539430443	chr19:43166713-43166714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557949598	chr19:43166727-43166728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192737699	chr19:43166731-43166732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369543340	chr19:43166735-43166736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8103053	chr19:43166779-43166780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542388208	chr19:43166808-43166809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149040568	chr19:43166836-43166837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531222534	chr19:43166840-43166841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556028659	chr19:43166857-43166858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551298151	chr19:43166859-43166860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11344207	chr19:43166869-43166870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569628681	chr19:43166872-43166873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117624993	chr19:43166915-43166916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574741858	chr19:43166923-43166924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551956617	chr19:43166975-43166976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79274724	chr19:43167008-43167009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548354142	chr19:43167103-43167104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567958036	chr19:43167150-43167151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560434670	chr19:43167247-43167248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143018518	chr19:43167289-43167290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74655678	chr19:43167292-43167293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73932762	chr19:43167296-43167297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539916648	chr19:43167350-43167351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562522410	chr19:43167386-43167387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373254562	chr19:43167396-43167397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10415489	chr19:43167402-43167403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10415493	chr19:43167408-43167409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10415506	chr19:43167426-43167427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10421465	chr19:43167836-43167837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10421471	chr19:43167842-43167843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10421476	chr19:43167860-43167861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10421657	chr19:43167882-43167883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189022159	chr19:43167914-43167915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563821436	chr19:43167967-43167968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181371930	chr19:43167968-43167969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531469743	chr19:43167975-43167976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541999683	chr19:43167990-43167991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562264395	chr19:43168061-43168062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43160200-43174800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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