Variant report

Variant	nsv559575
Chromosome Location	chr12:84475895-84693591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:548)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:84666195-84666238	K562	blood:	n/a	n/a
2	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
3	CEBPB	chr12:84508374-84508677	HepG2	liver:	n/a	chr12:84508538-84508549
4	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
5	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
7	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
9	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
10	CEBPB	chr12:84497837-84498179	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
12	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
13	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
14	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
15	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
18	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
19	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
21	CEBPB	chr12:84508382-84508565	H1-hESC	embryonic stem cell:	n/a	chr12:84508538-84508549
22	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
23	CTCF	chr12:84526060-84526210	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr12:84509040-84509190	BE2_C	brain:	n/a	n/a
26	CTCF	chr12:84634320-84634470	AG04450	lung:	n/a	n/a
27	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
28	CTCF	chr12:84493501-84493577	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr12:84501379-84501589	LNCaP	prostate:	n/a	n/a
30	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
31	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:84673641-84673724	GM13976	blood:	n/a	n/a
33	CTCF	chr12:84665861-84665952	LNCaP	prostate:	n/a	n/a
34	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
35	CTCF	chr12:84511860-84512010	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
37	CTCF	chr12:84555220-84555370	AG09319	gingival:	n/a	n/a
38	CTCF	chr12:84501525-84501533	K562	blood:	n/a	n/a
39	CTCF	chr12:84497808-84497930	Lung_OC	lung:	n/a	n/a
40	CTCF	chr12:84624180-84624330	HepG2	liver:	n/a	n/a
41	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
42	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
43	CTCF	chr12:84501460-84501610	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:84501420-84501570	HEK293	kidney:	n/a	n/a
45	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
46	CTCF	chr12:84509100-84509250	HMF	breast:	n/a	n/a
47	CTCF	chr12:84511920-84512070	A549	lung:	n/a	n/a
48	CTCF	chr12:84501500-84501650	HMEC	breast:	n/a	n/a
49	CTCF	chr12:84634420-84634570	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84677376..84680215-chr12:84681765..84683893,2	K562	blood:
2	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
3	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
4	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
5	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
6	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
7	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
8	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
9	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
10	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
11	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-2	chr12:84688089-84688341	ENSG00000257729
2	lnc-LRRIQ1-2	chr12:84687707-84687920	ENSG00000257729
3	lnc-LRRIQ1-2	chr12:84665119-84665185	ENSG00000257729
4	lnc-LRRIQ1-2	chr12:84688089-84688335	ENSG00000257729
5	lnc-LRRIQ1-2	chr12:84678170-84678273	ENSG00000257729

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region
ENSG00000257729	TF binding region
ENSG00000257729	chromatin interactions
ENSG00000225499	chromatin interactions
ENSG00000204511	chromatin interactions

Extended variants
information (count: 3077 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3077 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10862814	chr12:84475895-84475896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543562143	chr12:84475897-84475898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565375037	chr12:84475903-84475904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11116193	chr12:84475920-84475921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547569447	chr12:84475935-84475936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566057734	chr12:84475958-84475959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530345610	chr12:84475959-84475960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147348968	chr12:84475976-84475977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7978233	chr12:84475992-84475993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34840672	chr12:84476050-84476051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186140611	chr12:84476071-84476072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558416635	chr12:84476079-84476080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570521117	chr12:84476082-84476083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368304842	chr12:84476084-84476085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139577844	chr12:84476097-84476098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548492788	chr12:84476134-84476135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149897521	chr12:84476136-84476137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11116194	chr12:84476186-84476187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145002598	chr12:84476225-84476226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148653953	chr12:84476234-84476235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576404936	chr12:84476313-84476314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543788922	chr12:84476316-84476317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556355548	chr12:84476325-84476326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11116195	chr12:84476345-84476346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542119654	chr12:84476366-84476367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142162257	chr12:84476369-84476370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541095860	chr12:84476383-84476384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559533325	chr12:84476384-84476385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146770332	chr12:84476387-84476388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373154248	chr12:84476402-84476403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192011007	chr12:84476444-84476445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564007931	chr12:84476454-84476455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140382503	chr12:84476465-84476466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145656615	chr12:84476471-84476472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11838126	chr12:84476499-84476500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570484020	chr12:84476530-84476531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76291234	chr12:84476568-84476569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11116196	chr12:84476700-84476701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546684955	chr12:84476754-84476755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35430822	chr12:84476771-84476772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535600266	chr12:84476816-84476817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374675577	chr12:84476840-84476841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531352053	chr12:84476862-84476863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557013160	chr12:84476863-84476864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549964444	chr12:84476874-84476875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575479249	chr12:84476885-84476886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182523854	chr12:84476932-84476933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186656298	chr12:84476952-84476953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576789594	chr12:84477032-84477033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192062275	chr12:84477057-84477058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84472600-84478800	Weak transcription	Fetal Heart	heart
2	chr12:84478800-84479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:84478800-84479400	Enhancers	Fetal Heart	heart
4	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
5	chr12:84485400-84486400	Enhancers	Esophagus	oesophagus
6	chr12:84485400-84486600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:84485600-84485800	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
13	chr12:84510400-84510800	Enhancers	A549	lung
14	chr12:84510800-84511000	Active TSS	A549	lung
15	chr12:84511000-84511200	Flanking Active TSS	A549	lung
16	chr12:84511200-84511400	Active TSS	A549	lung
17	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:84522600-84523000	Active TSS	Spleen	Spleen
19	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
22	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
25	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:84528800-84529000	Enhancers	NHEK	skin
27	chr12:84529000-84529800	Weak transcription	NHEK	skin
28	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
32	chr12:84529800-84531400	Enhancers	NHEK	skin
33	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
34	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
35	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:84543800-84544600	Enhancers	NHEK	skin
42	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr12:84559600-84560400	Enhancers	A549	lung
50	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links