Variant report

Variant	esv1807449
Chromosome Location	chr19:22937456-22951145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22937509-22937541	Lung_OC	lung:	n/a	n/a
2	CTCF	chr19:22940780-22940802	GM13976	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC024563.1-3	chr19:22934985-22937677	ENSG00000180081.9

Variant related genes	Relation type
ENSG00000180081	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146366652	chr19:22937463-22937464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs558732410	chr19:22937477-22937478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs186632119	chr19:22937486-22937487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544261527	chr19:22937501-22937502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191842115	chr19:22937561-22937562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139333436	chr19:22937594-22937595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541758971	chr19:22937609-22937610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs371988546	chr19:22937612-22937613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184711717	chr19:22937621-22937622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs55730636	chr19:22937638-22937639	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1834948	chr19:22937642-22937643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs564263157	chr19:22937643-22937644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs531724256	chr19:22937663-22937664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs190007442	chr19:22937667-22937668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559609821	chr19:22940795-22940796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370889861	chr19:22940802-22940803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62120061	chr19:22942801-22942802	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16999595	chr19:22942808-22942809	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571656359	chr19:22942813-22942814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539085647	chr19:22942814-22942815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556960428	chr19:22942856-22942857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568892624	chr19:22942857-22942858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563701370	chr19:22942889-22942890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113622976	chr19:22942900-22942901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143347637	chr19:22942903-22942904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34971025	chr19:22942924-22942925	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540473889	chr19:22942936-22942937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs56791875	chr19:22942973-22942974	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139198303	chr19:22943011-22943012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35713821	chr19:22943019-22943020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545066717	chr19:22943030-22943031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77170585	chr19:22943042-22943043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530508820	chr19:22943062-22943063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542988462	chr19:22943063-22943064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62120063	chr19:22943071-22943072	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528345162	chr19:22943072-22943073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530542041	chr19:22943086-22943087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16999598	chr19:22943125-22943126	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182999743	chr19:22943217-22943218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35001851	chr19:22943239-22943240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187538768	chr19:22943262-22943263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529643210	chr19:22943267-22943268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191612624	chr19:22943274-22943275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536243446	chr19:22943296-22943297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143134876	chr19:22943301-22943302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529434257	chr19:22943312-22943313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567061367	chr19:22943313-22943314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147474439	chr19:22943329-22943330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377125251	chr19:22943362-22943363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577352391	chr19:22943363-22943364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22942800-22943200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:22943000-22944600	Weak transcription	Ovary	ovary
3	chr19:22950000-22950800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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