Variant report

Variant	nsv911467
Chromosome Location	chr19:23714441-23793270
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	chr19:23748022-23748698	MCF-7	breast:	n/a	n/a
3	CEBPB	chr19:23728287-23728951	IMR90	lung:	n/a	n/a
4	CEBPB	chr19:23726285-23726403	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:23714110-23714827	HepG2	liver:	n/a	chr19:23714556-23714567
6	CEBPB	chr19:23726192-23726392	A549	lung:	n/a	n/a
7	CEBPB	chr19:23778546-23778776	HepG2	liver:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
8	CEBPB	chr19:23778421-23778797	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
9	CEBPB	chr19:23737273-23737956	Hela-S3	cervix:	n/a	n/a
10	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
11	CEBPB	chr19:23714085-23714861	A549	lung:	n/a	chr19:23714556-23714567
12	CEBPB	chr19:23742838-23743194	A549	lung:	n/a	n/a
13	CEBPB	chr19:23778491-23778833	Hela-S3	cervix:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
14	CEBPB	chr19:23746254-23746481	A549	lung:	n/a	n/a
15	CEBPB	chr19:23726956-23727173	HepG2	liver:	n/a	chr19:23727071-23727082
16	CEBPB	chr19:23714492-23714717	IMR90	lung:	n/a	chr19:23714556-23714567
17	CEBPB	chr19:23744130-23744699	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:23726968-23727205	A549	lung:	n/a	chr19:23727071-23727082
19	CEBPB	chr19:23726983-23727207	IMR90	lung:	n/a	chr19:23727071-23727082
20	CEBPB	chr19:23744148-23744592	IMR90	lung:	n/a	n/a
21	CEBPB	chr19:23732021-23732658	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr19:23778511-23778820	K562	blood:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
23	CEBPB	chr19:23744142-23744447	K562	blood:	n/a	n/a
24	CEBPB	chr19:23744045-23744862	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr19:23728169-23728655	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:23714324-23714886	Hela-S3	cervix:	n/a	chr19:23714556-23714567
27	CEBPB	chr19:23778499-23778754	A549	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
28	CEBPB	chr19:23742002-23742164	A549	lung:	n/a	n/a
29	CEBPB	chr19:23748134-23748691	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:23778383-23778813	MCF-7	breast:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
31	CEBPB	chr19:23728072-23728616	A549	lung:	n/a	n/a
32	CEBPB	chr19:23778501-23778821	IMR90	lung:	n/a	chr19:23778651-23778660 chr19:23778649-23778662 chr19:23778651-23778660 chr19:23778651-23778660 chr19:23778649-23778660
33	CEBPB	chr19:23718314-23718394	HepG2	liver:	n/a	chr19:23718378-23718389
34	CEBPB	chr19:23747772-23748744	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr19:23742064-23742103	HepG2	liver:	n/a	n/a
36	CEBPB	chr19:23744087-23744680	A549	lung:	n/a	n/a
37	CEBPB	chr19:23722270-23722731	MCF-7	breast:	n/a	n/a
38	CEBPB	chr19:23747769-23748706	A549	lung:	n/a	n/a
39	CEBPB	chr19:23746267-23746490	HepG2	liver:	n/a	n/a
40	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
41	CEBPB	chr19:23742876-23743205	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:23748278-23748678	IMR90	lung:	n/a	n/a
43	CEBPB	chr19:23742030-23742215	IMR90	lung:	n/a	n/a
44	CEBPB	chr19:23726629-23726742	HepG2	liver:	n/a	n/a
45	CHD1	chr19:23752709-23752850	GM12878	blood:	n/a	n/a
46	CHD2	chr19:23737321-23737492	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr19:23731980-23732438	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr19:23767700-23767850	GM12867	blood:	n/a	n/a
49	CTCF	chr19:23754760-23754910	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr19:23754801-23754817	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23716991..23718899-chr19:23719198..23721188,2	MCF-7	breast:
2	chr19:23716991..23718899-chr19:23719198..23721188,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-6	chr19:23780143-23780394	NONHSAT063929
2	lnc-RPSAP58-1	chr19:23741124-23741642	XLOC_013022
3	lnc-ZNF675-1	chr19:23748014-23748050	XLOC_013278
4	lnc-ZNF675-1	chr19:23714333-23714492	XLOC_013278
5	lnc-RPSAP58-1	chr19:23740397-23740511	XLOC_013022
6	lnc-RPSAP58-1	chr19:23741124-23741230	XLOC_013022
7	lnc-RPSAP58-5	chr19:23785369-23785908	NONHSAT063930
8	lnc-RPSAP58-1	chr19:23734519-23734611	XLOC_013022

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

Extended variants
information (count: 2871 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2871 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs808858	chr19:23714441-23714442	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs113506989	chr19:23714452-23714453	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114271082	chr19:23714457-23714458	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs77682001	chr19:23714478-23714479	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570372819	chr19:23714479-23714480	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs75677381	chr19:23714484-23714485	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537360314	chr19:23714497-23714498	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555608544	chr19:23714508-23714509	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111564544	chr19:23714527-23714528	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146467421	chr19:23714530-23714531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534679518	chr19:23714568-23714569	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553466305	chr19:23714585-23714586	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578026916	chr19:23714586-23714587	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8110272	chr19:23714621-23714622	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564130634	chr19:23714665-23714666	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112304473	chr19:23714671-23714672	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56382981	chr19:23714740-23714741	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561936706	chr19:23714825-23714826	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528924669	chr19:23714876-23714877	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547059756	chr19:23714878-23714879	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139137737	chr19:23714922-23714923	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532881774	chr19:23714943-23714944	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551407368	chr19:23714958-23714959	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569932619	chr19:23715001-23715002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187315042	chr19:23715004-23715005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191944677	chr19:23715062-23715063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143149932	chr19:23715091-23715092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567606880	chr19:23715110-23715111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183358046	chr19:23715118-23715119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113304085	chr19:23715121-23715122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113000131	chr19:23715165-23715166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538764336	chr19:23715206-23715207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567386320	chr19:23715225-23715226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557391222	chr19:23715228-23715229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576326179	chr19:23715236-23715237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150451140	chr19:23715255-23715256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373376137	chr19:23715264-23715265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116872399	chr19:23715278-23715279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2640214	chr19:23715319-23715320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573971091	chr19:23715362-23715363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541066121	chr19:23715365-23715366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376327737	chr19:23715366-23715367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78787796	chr19:23715393-23715394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188589786	chr19:23715434-23715435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569607970	chr19:23715476-23715477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11446651	chr19:23715477-23715478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200478541	chr19:23715515-23715516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59316504	chr19:23715516-23715517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201726800	chr19:23715518-23715519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57788059	chr19:23715519-23715520	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
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23711200-23718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:23714000-23715000	Enhancers	Placenta	Placenta
3	chr19:23714000-23715400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:23714400-23715000	Active TSS	Fetal Heart	heart
5	chr19:23715400-23720000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:23718800-23720800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:23720000-23722200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr19:23720200-23720600	Enhancers	HMEC	breast
9	chr19:23720800-23722000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:23721000-23728400	Enhancers	Placenta	Placenta
11	chr19:23722000-23723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:23722200-23722400	Enhancers	Stomach Mucosa	stomach
13	chr19:23722200-23723200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:23722400-23723000	Weak transcription	Stomach Mucosa	stomach
15	chr19:23722400-23724000	Enhancers	Dnd41	blood
16	chr19:23723000-23723800	Enhancers	Stomach Mucosa	stomach
17	chr19:23723200-23725600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr19:23723600-23727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:23725600-23729600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:23727200-23727400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:23727400-23728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:23728200-23728600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:23728400-23729400	Weak transcription	Placenta	Placenta
24	chr19:23728600-23730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:23729400-23730400	Enhancers	Placenta	Placenta
26	chr19:23729600-23730400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr19:23730000-23730200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:23730000-23730400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:23730400-23730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:23730400-23731400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:23730400-23731600	Weak transcription	Placenta	Placenta
32	chr19:23730400-23732000	Enhancers	NHEK	skin
33	chr19:23730600-23734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:23730800-23731000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr19:23731000-23733800	Enhancers	HMEC	breast
36	chr19:23731200-23733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:23731400-23733800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr19:23731600-23732600	Enhancers	Hela-S3	cervix
39	chr19:23731600-23733800	Enhancers	Placenta	Placenta
40	chr19:23731600-23734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:23732000-23732200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:23732000-23732400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:23732000-23732800	Flanking Active TSS	NHEK	skin
44	chr19:23732600-23733000	Active TSS	Hela-S3	cervix
45	chr19:23732800-23734000	Enhancers	NHEK	skin
46	chr19:23733000-23734000	Enhancers	Hela-S3	cervix
47	chr19:23733800-23737200	Weak transcription	Placenta	Placenta
48	chr19:23733800-23737400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:23734000-23734400	Weak transcription	Hela-S3	cervix
50	chr19:23734200-23737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links