Variant report

Variant	esv3503083
Chromosome Location	chr19:39549130-39549483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34122330	chr19:39549133-39549134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10424762	chr19:39549135-39549136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10424259	chr19:39549137-39549138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201276921	chr19:39549145-39549146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28571886	chr19:39549149-39549150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367745883	chr19:39549150-39549151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10425958	chr19:39549152-39549153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377207362	chr19:39549153-39549154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8113220	chr19:39549156-39549157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574829720	chr19:39549158-39549159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79094927	chr19:39549162-39549163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34674486	chr19:39549164-39549165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369499640	chr19:39549166-39549167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8112300	chr19:39549172-39549173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12985043	chr19:39549181-39549182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376755322	chr19:39549182-39549183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71167622	chr19:39549183-39549184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57556122	chr19:39549201-39549202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140046854	chr19:39549219-39549220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546334820	chr19:39549228-39549229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564572322	chr19:39549231-39549232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184182131	chr19:39549244-39549245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142026239	chr19:39549256-39549257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562045444	chr19:39549287-39549288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150686959	chr19:39549298-39549299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548203746	chr19:39549307-39549308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542894328	chr19:39549314-39549315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530623142	chr19:39549320-39549321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552348361	chr19:39549321-39549322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561163006	chr19:39549323-39549324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528436560	chr19:39549329-39549330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372552076	chr19:39549347-39549348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377227587	chr19:39549348-39549349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567737210	chr19:39549354-39549355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535393388	chr19:39549359-39549360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557377029	chr19:39549360-39549361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111945502	chr19:39549365-39549366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146774556	chr19:39549382-39549383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199498095	chr19:39549386-39549387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113590811	chr19:39549388-39549389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540708625	chr19:39549389-39549390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180907862	chr19:39549402-39549403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187254862	chr19:39549410-39549411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544548366	chr19:39549420-39549421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190287228	chr19:39549423-39549424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182547625	chr19:39549429-39549430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552124094	chr19:39549447-39549448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376534153	chr19:39549468-39549469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39545200-39564400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:39545600-39552000	Weak transcription	A549	lung
3	chr19:39545600-39560400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:39545800-39553600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:39548800-39551000	Weak transcription	K562	blood

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