Variant report

Variant	nsv911469
Chromosome Location	chr19:23723161-23821789
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	BRCA1	chr19:23737404-23737655	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr19:23778491-23778833	Hela-S3	cervix:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
3	CEBPB	chr19:23742002-23742164	A549	lung:	n/a	n/a
4	CEBPB	chr19:23742030-23742215	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:23747769-23748706	A549	lung:	n/a	n/a
6	CEBPB	chr19:23778499-23778754	A549	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
7	CEBPB	chr19:23747772-23748744	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr19:23726983-23727207	IMR90	lung:	n/a	chr19:23727071-23727082
9	CEBPB	chr19:23748278-23748678	IMR90	lung:	n/a	n/a
10	CEBPB	chr19:23744142-23744447	K562	blood:	n/a	n/a
11	CEBPB	chr19:23726968-23727205	A549	lung:	n/a	chr19:23727071-23727082
12	CEBPB	chr19:23778501-23778821	IMR90	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
13	CEBPB	chr19:23728169-23728655	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:23744045-23744862	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr19:23742064-23742103	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:23778511-23778820	K562	blood:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
17	CEBPB	chr19:23726285-23726403	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:23778546-23778776	HepG2	liver:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
19	CEBPB	chr19:23778421-23778797	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
20	CEBPB	chr19:23778383-23778813	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
21	CEBPB	chr19:23737273-23737956	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr19:23748134-23748691	HepG2	liver:	n/a	n/a
23	CEBPB	chr19:23744148-23744592	IMR90	lung:	n/a	n/a
24	CEBPB	chr19:23744087-23744680	A549	lung:	n/a	n/a
25	CEBPB	chr19:23744130-23744699	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:23728072-23728616	A549	lung:	n/a	n/a
27	CEBPB	chr19:23726956-23727173	HepG2	liver:	n/a	chr19:23727071-23727082
28	CEBPB	chr19:23742876-23743205	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:23778468-23778821	ECC-1	luminal epithelium:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
30	CEBPB	chr19:23748022-23748698	MCF-7	breast:	n/a	n/a
31	CEBPB	chr19:23732021-23732658	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr19:23778495-23778758	H1-hESC	embryonic stem cell:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
33	CEBPB	chr19:23726629-23726742	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:23746254-23746481	A549	lung:	n/a	n/a
35	CEBPB	chr19:23728287-23728951	IMR90	lung:	n/a	n/a
36	CEBPB	chr19:23746267-23746490	HepG2	liver:	n/a	n/a
37	CEBPB	chr19:23726192-23726392	A549	lung:	n/a	n/a
38	CEBPB	chr19:23742838-23743194	A549	lung:	n/a	n/a
39	CHD1	chr19:23752709-23752850	GM12878	blood:	n/a	n/a
40	CHD2	chr19:23737321-23737492	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr19:23731980-23732438	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr19:23732060-23732210	NHEK	skin:	n/a	n/a
43	CTCF	chr19:23815770-23815839	Lung_OC	lung:	n/a	n/a
44	CTCF	chr19:23818672-23818768	GM10248	blood:	n/a	n/a
45	CTCF	chr19:23733116-23733174	Fibrobl	skin:	n/a	n/a
46	CTCF	chr19:23754760-23754910	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr19:23732031-23732248	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr19:23738147-23738245	Lung_OC	lung:	n/a	n/a
49	CTCF	chr19:23732100-23732250	HMEC	breast:	n/a	n/a
50	CTCF	chr19:23754646-23754917	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-1	chr19:23734519-23734611	XLOC_013022
2	lnc-RPSAP58-5	chr19:23785369-23785908	NONHSAT063930
3	lnc-RPSAP58-1	chr19:23741124-23741230	XLOC_013022
4	lnc-ZNF675-1	chr19:23748014-23748050	XLOC_013278
5	lnc-RPSAP58-6	chr19:23780143-23780394	NONHSAT063929
6	lnc-RPSAP58-1	chr19:23740397-23740511	XLOC_013022
7	lnc-RPSAP58-1	chr19:23741124-23741642	XLOC_013022

Variant related genes	Relation type
ENSG00000268455	TF binding region
VN1R93P	TF binding region
RPS27P29	TF binding region
SKIV2L2	miRNA target sites
USP6NL	miRNA target sites
TRAM1	miRNA target sites
NEO1	miRNA target sites
MASTL	miRNA target sites

Extended variants
information (count: 2535 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:2535 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8107665	chr19:23723161-23723162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567747831	chr19:23723188-23723189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534762609	chr19:23723199-23723200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554020195	chr19:23723204-23723205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572238552	chr19:23723215-23723216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546143532	chr19:23723254-23723255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8107883	chr19:23723262-23723263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575985697	chr19:23723265-23723266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573326768	chr19:23723273-23723274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185255660	chr19:23723279-23723280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561676489	chr19:23723290-23723291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542289251	chr19:23723299-23723300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74376413	chr19:23723307-23723308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77650269	chr19:23723329-23723330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117642185	chr19:23723330-23723331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533321014	chr19:23723337-23723338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372444000	chr19:23723338-23723339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562053125	chr19:23723350-23723351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563999719	chr19:23723374-23723375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76435500	chr19:23723386-23723387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549362375	chr19:23723405-23723406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73926204	chr19:23723427-23723428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190902814	chr19:23723444-23723445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547089461	chr19:23723453-23723454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573925624	chr19:23723454-23723455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539630373	chr19:23723462-23723463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555744685	chr19:23723470-23723471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558121420	chr19:23723498-23723499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140673572	chr19:23723512-23723513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80252049	chr19:23723520-23723521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12460709	chr19:23723556-23723557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145848904	chr19:23723564-23723565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540748194	chr19:23723582-23723583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78134933	chr19:23723591-23723592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577850576	chr19:23723595-23723596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112037183	chr19:23723596-23723597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559982549	chr19:23723630-23723631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138324895	chr19:23723639-23723640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1973371	chr19:23723647-23723648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111296077	chr19:23723652-23723653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149228630	chr19:23723707-23723708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372272063	chr19:23723718-23723719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113475559	chr19:23723740-23723741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533372007	chr19:23723780-23723781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571757347	chr19:23723800-23723801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539689050	chr19:23723818-23723819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183094763	chr19:23723819-23723820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569709315	chr19:23723832-23723833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529561020	chr19:23723857-23723858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547127461	chr19:23723873-23723874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23721000-23728400	Enhancers	Placenta	Placenta
2	chr19:23722000-23723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:23722200-23723200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:23722400-23724000	Enhancers	Dnd41	blood
5	chr19:23723000-23723800	Enhancers	Stomach Mucosa	stomach
6	chr19:23723200-23725600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr19:23723600-23727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:23725600-23729600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:23727200-23727400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:23727400-23728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:23728200-23728600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:23728400-23729400	Weak transcription	Placenta	Placenta
13	chr19:23728600-23730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:23729400-23730400	Enhancers	Placenta	Placenta
15	chr19:23729600-23730400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr19:23730000-23730200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr19:23730000-23730400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:23730400-23730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:23730400-23731400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:23730400-23731600	Weak transcription	Placenta	Placenta
21	chr19:23730400-23732000	Enhancers	NHEK	skin
22	chr19:23730600-23734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:23730800-23731000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr19:23731000-23733800	Enhancers	HMEC	breast
25	chr19:23731200-23733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr19:23731400-23733800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr19:23731600-23732600	Enhancers	Hela-S3	cervix
28	chr19:23731600-23733800	Enhancers	Placenta	Placenta
29	chr19:23731600-23734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:23732000-23732200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:23732000-23732400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:23732000-23732800	Flanking Active TSS	NHEK	skin
33	chr19:23732600-23733000	Active TSS	Hela-S3	cervix
34	chr19:23732800-23734000	Enhancers	NHEK	skin
35	chr19:23733000-23734000	Enhancers	Hela-S3	cervix
36	chr19:23733800-23737200	Weak transcription	Placenta	Placenta
37	chr19:23733800-23737400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:23734000-23734400	Weak transcription	Hela-S3	cervix
39	chr19:23734200-23737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:23734400-23734600	Enhancers	Hela-S3	cervix
41	chr19:23734600-23736400	Weak transcription	Hela-S3	cervix
42	chr19:23736200-23736800	ZNF genes & repeats	HMEC	breast
43	chr19:23736400-23737400	Enhancers	Hela-S3	cervix
44	chr19:23736800-23738400	Enhancers	HMEC	breast
45	chr19:23736800-23738400	Enhancers	NHEK	skin
46	chr19:23737000-23737800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:23737000-23738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:23737200-23737400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:23737200-23737400	Enhancers	Placenta	Placenta
50	chr19:23737400-23737800	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links