Variant report

Variant	esv3371570
Chromosome Location	chr19:40383512-40387810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547645859	chr19:40383519-40383520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560317449	chr19:40383724-40383725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527699037	chr19:40383766-40383767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549370714	chr19:40383867-40383868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145218790	chr19:40383905-40383906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62108865	chr19:40383974-40383975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367618328	chr19:40384035-40384036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200304298	chr19:40384037-40384038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538301500	chr19:40384039-40384040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550147125	chr19:40384055-40384056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201083321	chr19:40384076-40384077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571809651	chr19:40384080-40384081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150820208	chr19:40384083-40384084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139430994	chr19:40384085-40384086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538992262	chr19:40384086-40384087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139813887	chr19:40384099-40384100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144364268	chr19:40384116-40384117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554431904	chr19:40384117-40384118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140133111	chr19:40384125-40384126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143773902	chr19:40384134-40384135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200124142	chr19:40384138-40384139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369233206	chr19:40384140-40384141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535869362	chr19:40384141-40384142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146703868	chr19:40384142-40384143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375888194	chr19:40384147-40384148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139184925	chr19:40384161-40384162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373569119	chr19:40384186-40384187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554098419	chr19:40384234-40384235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575743398	chr19:40384238-40384239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543499892	chr19:40384239-40384240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372659444	chr19:40384251-40384252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564959322	chr19:40384286-40384287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143762064	chr19:40384321-40384322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149763121	chr19:40384340-40384341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188565332	chr19:40384341-40384342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559620667	chr19:40384357-40384358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529969230	chr19:40384363-40384364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549406280	chr19:40384427-40384428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561256692	chr19:40384454-40384455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531889918	chr19:40384469-40384470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149161739	chr19:40384518-40384519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200138312	chr19:40384589-40384590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143306165	chr19:40384605-40384606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151293840	chr19:40384623-40384624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200682066	chr19:40384635-40384636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201415831	chr19:40384650-40384651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140677440	chr19:40384654-40384655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550227994	chr19:40384676-40384677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199751687	chr19:40384707-40384708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200692665	chr19:40384752-40384753	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
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
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
Lung cancer	21569311	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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
3	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine

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