Variant report

Variant	esv1839515
Chromosome Location	chr19:23221067-23223046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs290579	chr19:23221067-23221068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186592408	chr19:23221073-23221074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139292623	chr19:23221091-23221092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566526207	chr19:23221111-23221112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370351515	chr19:23221113-23221114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191803423	chr19:23221128-23221129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78858259	chr19:23221132-23221133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73555441	chr19:23221139-23221140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74948017	chr19:23221218-23221219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556848330	chr19:23221243-23221244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575055194	chr19:23221275-23221276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144225540	chr19:23221328-23221329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560127314	chr19:23221333-23221334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368756473	chr19:23221374-23221375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545940610	chr19:23221397-23221398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564910234	chr19:23221415-23221416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532371691	chr19:23221469-23221470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550518648	chr19:23221486-23221487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs290578	chr19:23221489-23221490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7256510	chr19:23221503-23221504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180942136	chr19:23221518-23221519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564383793	chr19:23221537-23221538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185817290	chr19:23221538-23221539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533866720	chr19:23221545-23221546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552276301	chr19:23221576-23221577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570939662	chr19:23221585-23221586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538408970	chr19:23221595-23221596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556485895	chr19:23221625-23221626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115964341	chr19:23221648-23221649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535789061	chr19:23221651-23221652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553747269	chr19:23221688-23221689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533013974	chr19:23221698-23221699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572136426	chr19:23221714-23221715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545879043	chr19:23221740-23221741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190943102	chr19:23221744-23221745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs290577	chr19:23221779-23221780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113008314	chr19:23221786-23221787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562551125	chr19:23221809-23221810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530006607	chr19:23221810-23221811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548548501	chr19:23221857-23221858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182650052	chr19:23221909-23221910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527316799	chr19:23221910-23221911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371996578	chr19:23221947-23221948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375067533	chr19:23221962-23221963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565838136	chr19:23221989-23221990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186969560	chr19:23222006-23222007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570482969	chr19:23222032-23222033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190678411	chr19:23222046-23222047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79372040	chr19:23222140-23222141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550343339	chr19:23222155-23222156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23219000-23222000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:23220200-23221400	Enhancers	Fetal Heart	heart
3	chr19:23220800-23221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:23222000-23222400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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