Variant report

Variant	nsv960815
Chromosome Location	chr19:22852139-22871717
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	chr19:22871201-22871232	GM20000	blood:	n/a	n/a
2	CTCF	chr19:22852958-22853062	GM20000	blood:	n/a	n/a
3	CTCF	chr19:22853740-22853741	GM10248	blood:	n/a	n/a
4	CTCF	chr19:22865097-22865164	GM10266	blood:	n/a	n/a
5	JUND	chr19:22862134-22862216	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:22854739-22854866	A549	lung:	n/a	n/a
7	POLR2A	chr19:22854110-22854256	MCF-7	breast:	n/a	n/a
8	SETDB1	chr19:22868407-22868818	U2OS	brain:	n/a	n/a
9	ZNF274	chr19:22868455-22868708	GM08714	blood:	n/a	n/a
10	ZNF274	chr19:22868410-22868727	K562	blood:	n/a	n/a
11	ZNF274	chr19:22868363-22868831	NT2-D1	testis:	n/a	n/a
12	ZNF274	chr19:22867628-22867769	NT2-D1	testis:	n/a	n/a
13	ZNF274	chr19:22867999-22868940	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC024563.1-6	chr19:22854156-22854260	ENSG00000268981.1

Variant related genes	Relation type
ZNF849P	TF binding region

Extended variants
information (count: 248 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190801874	chr19:22853617-22853618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs8108452	chr19:22853618-22853619	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200068431	chr19:22853623-22853624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368428801	chr19:22853646-22853647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554538975	chr19:22853656-22853657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533639873	chr19:22853662-22853663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572995752	chr19:22853676-22853677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs8108555	chr19:22853677-22853678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565425678	chr19:22853742-22853743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375173133	chr19:22853748-22853749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548841187	chr19:22853770-22853771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201129972	chr19:22853785-22853786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576905165	chr19:22853786-22853787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182156567	chr19:22853801-22853802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187227799	chr19:22853803-22853804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562560479	chr19:22853808-22853809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191883124	chr19:22853819-22853820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371856349	chr19:22853828-22853829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568824145	chr19:22853840-22853841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375030668	chr19:22853864-22853865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560584916	chr19:22853887-22853888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141571131	chr19:22853898-22853899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182586094	chr19:22853913-22853914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6511372	chr19:22853942-22853943	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs6511373	chr19:22854007-22854008	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116249989	chr19:22854044-22854045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568010652	chr19:22854045-22854046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375581756	chr19:22854091-22854092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568892977	chr19:22854107-22854108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188561800	chr19:22854113-22854114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78156205	chr19:22854118-22854119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4244915	chr19:22854138-22854139	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs573051450	chr19:22854142-22854143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4244916	chr19:22854158-22854159	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs374924653	chr19:22854189-22854190	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558456964	chr19:22854220-22854221	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs576596617	chr19:22854239-22854240	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201916174	chr19:22854242-22854243	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs544325601	chr19:22854244-22854245	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs58406287	chr19:22854268-22854269	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4933023	chr19:22854276-22854277	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533935007	chr19:22854280-22854281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs3951787	chr19:22854292-22854293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4496275	chr19:22854293-22854294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535538953	chr19:22854307-22854308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145766202	chr19:22854388-22854389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs3862496	chr19:22854398-22854399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs193090705	chr19:22854401-22854402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185585751	chr19:22854403-22854404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7258803	chr19:22854468-22854469	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22853600-22855200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:22866800-22868000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:22866800-22869000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:22867000-22868200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:22867400-22868000	Active TSS	Fetal Heart	heart

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