Variant report

Variant	esv3449805
Chromosome Location	chr19:43052508-43055085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567573087	chr19:43052563-43052564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529997172	chr19:43052597-43052598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10423370	chr19:43052639-43052640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569754839	chr19:43052641-43052642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570682016	chr19:43052690-43052691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537892597	chr19:43052741-43052742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140648948	chr19:43052748-43052749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370407180	chr19:43052817-43052818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10084115	chr19:43052825-43052826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56028526	chr19:43052827-43052828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71167402	chr19:43052832-43052833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79646952	chr19:43052833-43052834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147518987	chr19:43052903-43052904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374442222	chr19:43052904-43052905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180906801	chr19:43052935-43052936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565917405	chr19:43052957-43052958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59212682	chr19:43052992-43052993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535233300	chr19:43053001-43053002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77918896	chr19:43053009-43053010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575084307	chr19:43053025-43053026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113868582	chr19:43053080-43053081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76355987	chr19:43053106-43053107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10405037	chr19:43053110-43053111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545104209	chr19:43053151-43053152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565008362	chr19:43053163-43053164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527461305	chr19:43053241-43053242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541224418	chr19:43053247-43053248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560983102	chr19:43053262-43053263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386809430	chr19:43053295-43053296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190796226	chr19:43053297-43053298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560953787	chr19:43053346-43053347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569691407	chr19:43053418-43053419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181810587	chr19:43053540-43053541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10404402	chr19:43053594-43053595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566189017	chr19:43053602-43053603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111553336	chr19:43053764-43053765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548775092	chr19:43053795-43053796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568603526	chr19:43053827-43053828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375259794	chr19:43053906-43053907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370649640	chr19:43053959-43053960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566987078	chr19:43053963-43053964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190564535	chr19:43053964-43053965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557716116	chr19:43053965-43053966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80249460	chr19:43053976-43053977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77640507	chr19:43053998-43053999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181445468	chr19:43054024-43054025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186573915	chr19:43054029-43054030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370161816	chr19:43054042-43054043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540807310	chr19:43054052-43054053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561133436	chr19:43054086-43054087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43054000-43056800	Weak transcription	Adipose Nuclei	Adipose
3	chr19:43054600-43054800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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