Variant report

Variant	nsv53263
Chromosome Location	chr12:123188976-123193497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:123192855-123193151	K562	blood:	n/a	n/a
2	CEBPB	chr12:123192060-123192294	HepG2	liver:	n/a	chr12:123192205-123192216
3	CEBPB	chr12:123192177-123192277	Hela-S3	cervix:	n/a	chr12:123192205-123192216
4	CEBPB	chr12:123192061-123192396	A549	lung:	n/a	chr12:123192205-123192216
5	CEBPB	chr12:123192198-123192210	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr12:123192059-123192377	IMR90	lung:	n/a	chr12:123192205-123192216
7	GATA2	chr12:123192789-123193089	K562	blood:	n/a	n/a
8	GATA3	chr12:123193377-123193611	T-47D	breast:	n/a	n/a
9	NR2F2	chr12:123192809-123193203	K562	blood:	n/a	n/a
10	SPI1	chr12:123193214-123193362	K562	blood:	n/a	n/a
11	TCF3	chr12:123193223-123193480	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123189256-123189306	PrEC	prostate:	n/a
2	chr12:123189256-123189306	PrEC	prostate:	n/a
3	chr12:123189236-123189286	Jurkat	blood:	n/a
4	chr12:123189256-123189306	AG04449	skin:	fetal
5	chr12:123189256-123189306	MCF-7	breast:	n/a
6	chr12:123189256-123189306	HL-60	blood:	n/a
7	chr12:123189236-123189286	HEEpiC	esophagus:	n/a
8	chr12:123189256-123189306	AG04450	lung:	fetal
9	chr12:123189236-123189286	HepG2	liver:	n/a
10	chr12:123189256-123189306	NHDF-neo	bronchial:	n/a
11	chr12:123189256-123189306	U87	brain:	n/a
12	chr12:123189256-123189306	PFSK-1	brain:	n/a
13	chr12:123189256-123189306	Hepatocyte	liver:	n/a
14	chr12:123189236-123189286	HRPEpiC	eye:	n/a
15	chr12:123189236-123189286	H1-hESC	embryonic stem cell:	embryo
16	chr12:123189236-123189286	ProgFib	skin:	n/a
17	chr12:123189256-123189306	GM19239	blood:	n/a
18	chr12:123189256-123189306	T-47D	breast:	n/a
19	chr12:123189236-123189286	SAEC	small airway:	n/a
20	chr12:123189236-123189286	SK-N-MC	brain:	n/a
21	chr12:123189256-123189306	HCPEpiC	choroid plexus:	n/a
22	chr12:123189256-123189306	HRCEpiC	kidney:	n/a
23	chr12:123189256-123189306	HCF	heart:	n/a
24	chr12:123189236-123189286	Hepatocyte	liver:	n/a
25	chr12:123189236-123189286	PFSK-1	brain:	n/a
26	chr12:123189236-123189286	ovcar-3	ovarian:	n/a
27	chr12:123189236-123189286	HEK293	kidney:	embryo
28	chr12:123189236-123189286	HNPCEpiC	eye:	n/a
29	chr12:123189236-123189286	SKMC	muscle:	n/a
30	chr12:123189256-123189306	Caco-2	colon:	n/a
31	chr12:123189256-123189306	IMR90	lung:	fetal
32	chr12:123189236-123189286	HRE	kidney:	n/a
33	chr12:123189236-123189286	GM12892	blood:	n/a
34	chr12:123189236-123189286	RPTEC	kidney:	n/a
35	chr12:123189256-123189306	MCF10A-Er-Src	breast:	n/a
36	chr12:123189256-123189306	PANC-1	pancreas:	n/a
37	chr12:123189256-123189306	NT2-D1	testis:	n/a
38	chr12:123189256-123189306	K562	blood:	n/a
39	chr12:123189256-123189306	RPTEC	kidney:	n/a
40	chr12:123189236-123189286	HIPEpiC	eye:	n/a
41	chr12:123189256-123189306	BJ	skin:	n/a
42	chr12:123189256-123189306	SKMC	muscle:	n/a
43	chr12:123189256-123189306	Hela-S3	cervix:	n/a
44	chr12:123189236-123189286	HUVEC	blood vessel:	n/a
45	chr12:123189236-123189286	NH-A	brain:	n/a
46	chr12:123189256-123189306	A549	lung:	n/a
47	chr12:123189236-123189286	ECC-1	luminal epithelium:	n/a
48	chr12:123189236-123189286	SK-N-SH	brain:	n/a
49	chr12:123189236-123189286	GM06990	blood:	n/a
50	chr12:123189256-123189306	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
HCAR2	TF binding region
HCAR2	CpG island

Extended variants
information (count: 218 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs552272486	chr12:123188984-123188985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570923310	chr12:123188999-123189000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538450989	chr12:123189034-123189035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55736428	chr12:123189068-123189069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568766575	chr12:123189080-123189081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558635763	chr12:123189107-123189108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575705198	chr12:123189161-123189162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371698705	chr12:123189199-123189200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7305589	chr12:123189208-123189209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs514019	chr12:123189211-123189212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182566283	chr12:123189219-123189220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572429835	chr12:123189237-123189238	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs539519297	chr12:123189246-123189247	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs201261312	chr12:123189248-123189249	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs369705338	chr12:123189250-123189251	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs187223452	chr12:123189256-123189257	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs576921353	chr12:123189257-123189258	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs562479730	chr12:123189260-123189261	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs112378089	chr12:123189285-123189286	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs562386642	chr12:123189286-123189287	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs574376330	chr12:123189294-123189295	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs541752808	chr12:123189313-123189314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559866882	chr12:123189326-123189327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575066345	chr12:123189331-123189332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551946138	chr12:123189341-123189342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151273279	chr12:123189369-123189370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376533926	chr12:123189370-123189371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140511470	chr12:123189399-123189400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550387505	chr12:123189453-123189454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568703613	chr12:123189463-123189464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540961312	chr12:123189492-123189493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191550293	chr12:123189498-123189499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6489222	chr12:123189499-123189500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs565898852	chr12:123189530-123189531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12303524	chr12:123189559-123189560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183347123	chr12:123189575-123189576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570128842	chr12:123189576-123189577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377117091	chr12:123189577-123189578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537184258	chr12:123189581-123189582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555920040	chr12:123189584-123189585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574315726	chr12:123189586-123189587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541687670	chr12:123189591-123189592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188855439	chr12:123189600-123189601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112247633	chr12:123189610-123189611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571901198	chr12:123189617-123189618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11323486	chr12:123189627-123189628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200339213	chr12:123189641-123189642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200700641	chr12:123189642-123189643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193086349	chr12:123189668-123189669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563966498	chr12:123189677-123189678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123174000-123199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:123187800-123198600	Weak transcription	Adipose Nuclei	Adipose
3	chr12:123188000-123193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:123188200-123192000	Weak transcription	HepG2	liver
5	chr12:123188600-123190400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:123190400-123195000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:123192000-123192600	Enhancers	HepG2	liver
8	chr12:123192600-123199800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links