Variant report

Variant	nsv1060221
Chromosome Location	chr19:23726650-23746727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-1	chr19:23741124-23741230	XLOC_013022
2	lnc-RPSAP58-1	chr19:23741124-23741642	XLOC_013022
3	lnc-RPSAP58-1	chr19:23734519-23734611	XLOC_013022
4	lnc-RPSAP58-1	chr19:23740397-23740511	XLOC_013022

Variant related genes	Relation type
MASTL	miRNA target sites
USP6NL	miRNA target sites
NEO1	miRNA target sites
SKIV2L2	miRNA target sites

Extended variants
information (count: 1162 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376370219	chr19:23726651-23726652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556333302	chr19:23726667-23726668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574656822	chr19:23726716-23726717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535775849	chr19:23726750-23726751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145442402	chr19:23726751-23726752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572110900	chr19:23726761-23726762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113577691	chr19:23726776-23726777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75919719	chr19:23726791-23726792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79903362	chr19:23726793-23726794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545779492	chr19:23726801-23726802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182647639	chr19:23726822-23726823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186510762	chr19:23726844-23726845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370819837	chr19:23726848-23726849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7248152	chr19:23726864-23726865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113563424	chr19:23726895-23726896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115633927	chr19:23726903-23726904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376190147	chr19:23726919-23726920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576174717	chr19:23726920-23726921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115963421	chr19:23726922-23726923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112712531	chr19:23726940-23726941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551756342	chr19:23726972-23726973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569910714	chr19:23726979-23726980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191409107	chr19:23727017-23727018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141135732	chr19:23727096-23727097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146944615	chr19:23727109-23727110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535635640	chr19:23727110-23727111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138010915	chr19:23727112-23727113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534083455	chr19:23727125-23727126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115718472	chr19:23727162-23727163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539311931	chr19:23727184-23727185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557747848	chr19:23727200-23727201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575923288	chr19:23727219-23727220	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57813566	chr19:23727222-23727223	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561366552	chr19:23727223-23727224	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11666390	chr19:23727228-23727229	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573939251	chr19:23727233-23727234	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143568209	chr19:23727265-23727266	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567490695	chr19:23727270-23727271	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536418492	chr19:23727282-23727283	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112141062	chr19:23727291-23727292	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112990314	chr19:23727334-23727335	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386808101	chr19:23727340-23727341	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115272577	chr19:23727341-23727342	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575648623	chr19:23727353-23727354	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143123941	chr19:23727355-23727356	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549537705	chr19:23727392-23727393	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10412172	chr19:23727423-23727424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544328888	chr19:23727428-23727429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76446671	chr19:23727439-23727440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547621307	chr19:23727466-23727467	Weak transcription Enhancers	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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23721000-23728400	Enhancers	Placenta	Placenta
2	chr19:23723600-23727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:23725600-23729600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:23727200-23727400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:23727400-23728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:23728200-23728600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:23728400-23729400	Weak transcription	Placenta	Placenta
8	chr19:23728600-23730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:23729400-23730400	Enhancers	Placenta	Placenta
10	chr19:23729600-23730400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr19:23730000-23730200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr19:23730000-23730400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:23730400-23730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:23730400-23731400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:23730400-23731600	Weak transcription	Placenta	Placenta
16	chr19:23730400-23732000	Enhancers	NHEK	skin
17	chr19:23730600-23734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:23730800-23731000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:23731000-23733800	Enhancers	HMEC	breast
20	chr19:23731200-23733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:23731400-23733800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:23731600-23732600	Enhancers	Hela-S3	cervix
23	chr19:23731600-23733800	Enhancers	Placenta	Placenta
24	chr19:23731600-23734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:23732000-23732200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:23732000-23732400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:23732000-23732800	Flanking Active TSS	NHEK	skin
28	chr19:23732600-23733000	Active TSS	Hela-S3	cervix
29	chr19:23732800-23734000	Enhancers	NHEK	skin
30	chr19:23733000-23734000	Enhancers	Hela-S3	cervix
31	chr19:23733800-23737200	Weak transcription	Placenta	Placenta
32	chr19:23733800-23737400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:23734000-23734400	Weak transcription	Hela-S3	cervix
34	chr19:23734200-23737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:23734400-23734600	Enhancers	Hela-S3	cervix
36	chr19:23734600-23736400	Weak transcription	Hela-S3	cervix
37	chr19:23736200-23736800	ZNF genes & repeats	HMEC	breast
38	chr19:23736400-23737400	Enhancers	Hela-S3	cervix
39	chr19:23736800-23738400	Enhancers	HMEC	breast
40	chr19:23736800-23738400	Enhancers	NHEK	skin
41	chr19:23737000-23737800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:23737000-23738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:23737200-23737400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:23737200-23737400	Enhancers	Placenta	Placenta
45	chr19:23737400-23737800	Weak transcription	Placenta	Placenta
46	chr19:23737400-23738000	Weak transcription	Hela-S3	cervix
47	chr19:23737400-23738400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr19:23737800-23740800	Enhancers	Placenta	Placenta
49	chr19:23738000-23738200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:23738000-23738200	Enhancers	Hela-S3	cervix

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