Variant report

Variant	esv3410100
Chromosome Location	chr19:20102023-20106406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543297577	chr19:20103885-20103886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117394526	chr19:20103898-20103899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547795310	chr19:20103899-20103900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531553730	chr19:20103904-20103905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189842765	chr19:20103905-20103906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182405265	chr19:20103924-20103925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527803736	chr19:20103945-20103946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142272801	chr19:20103948-20103949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188057632	chr19:20103954-20103955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58922627	chr19:20103975-20103976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540188976	chr19:20104004-20104005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191627092	chr19:20104017-20104018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538597802	chr19:20104030-20104031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139599570	chr19:20104036-20104037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541785844	chr19:20104038-20104039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183469721	chr19:20104045-20104046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534685127	chr19:20104046-20104047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570310829	chr19:20104049-20104050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537645525	chr19:20104092-20104093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188817735	chr19:20104106-20104107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192506475	chr19:20104122-20104123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75694370	chr19:20104172-20104173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200207582	chr19:20104173-20104174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374459531	chr19:20104177-20104178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185017882	chr19:20104272-20104273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186663025	chr19:20104322-20104323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544975794	chr19:20104377-20104378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149745383	chr19:20104478-20104479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200308234	chr19:20104566-20104567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149584315	chr19:20104594-20104595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146395502	chr19:20104595-20104596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527716448	chr19:20104619-20104620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547857895	chr19:20104628-20104629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79885620	chr19:20104631-20104632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201510050	chr19:20104639-20104640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559154212	chr19:20104655-20104656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542794278	chr19:20104679-20104680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570583476	chr19:20104727-20104728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80115757	chr19:20104807-20104808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561269523	chr19:20104815-20104816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191515861	chr19:20104817-20104818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80300343	chr19:20104820-20104821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113914984	chr19:20104864-20104865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549717009	chr19:20104880-20104881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184696842	chr19:20104937-20104938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189631245	chr19:20104948-20104949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552527101	chr19:20105008-20105009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113721150	chr19:20105028-20105029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113002690	chr19:20105031-20105032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111677729	chr19:20105034-20105035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20103800-20106800	Weak transcription	Esophagus	oesophagus
2	chr19:20105000-20105200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:20105200-20105400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr19:20105400-20112800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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