Variant report

Variant	rs6719475
Chromosome Location	chr2:21873443-21873444
allele	C/T
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	CEBPB	chr2:21873268-21873508	HepG2	liver:	n/a	chr2:21873344-21873355 chr2:21873343-21873356 chr2:21873424-21873435 chr2:21873343-21873356 chr2:21873424-21873435
2	GATA3	chr2:21873364-21873797	MCF-7	breast:	n/a	n/a
3	CEBPB	chr2:21873282-21873530	A549	lung:	n/a	chr2:21873344-21873355 chr2:21873343-21873356 chr2:21873424-21873435 chr2:21873343-21873356 chr2:21873424-21873435

Variant related genes	Relation type
ENSG00000228538	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11885530	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890428	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893111	0.90[EUR][1000 genomes]
rs11893913	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11894171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11897479	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11901833	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11902625	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042814	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042818	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042879	0.95[EUR][1000 genomes]
rs2006198	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355148	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56259583	0.95[EUR][1000 genomes]
rs57064261	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57119946	0.85[EUR][1000 genomes]
rs57994839	0.85[EUR][1000 genomes]
rs58295677	0.95[EUR][1000 genomes]
rs58410505	0.95[ASN][1000 genomes]
rs59464527	0.85[EUR][1000 genomes]
rs59660521	0.95[EUR][1000 genomes]
rs60022239	0.95[ASN][1000 genomes]
rs60029510	0.89[EUR][1000 genomes]
rs60061690	1.00[EUR][1000 genomes]
rs60451450	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61350387	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547797	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547798	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547799	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547800	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547801	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547804	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708716	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6714387	0.95[EUR][1000 genomes]
rs6721611	0.95[ASN][1000 genomes]
rs6722505	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6731548	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6737021	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737862	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750094	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751535	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6754905	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72897836	0.95[EUR][1000 genomes]
rs72897840	0.95[EUR][1000 genomes]
rs72897842	0.95[EUR][1000 genomes]
rs72897845	0.90[EUR][1000 genomes]
rs72897846	0.90[EUR][1000 genomes]
rs72897849	0.90[EUR][1000 genomes]
rs72897850	0.90[EUR][1000 genomes]
rs72897853	0.95[EUR][1000 genomes]
rs72897876	0.89[EUR][1000 genomes]
rs72898229	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898237	1.00[EUR][1000 genomes]
rs72898238	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898259	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72898265	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73919125	0.95[EUR][1000 genomes]
rs73919132	0.89[EUR][1000 genomes]
rs7583511	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584279	0.95[ASN][1000 genomes]
rs7585006	0.83[AFR][1000 genomes]
rs7594195	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595261	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599075	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679075	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3406784	chr2:21805088-22160765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21863000-21876000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:21865800-21875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:21867200-21875200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:21871000-21878800	Weak transcription	Fetal Lung	lung
5	chr2:21872600-21876400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:21872800-21874000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:21873000-21873800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:21873000-21873800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:21873000-21874400	Enhancers	Ovary	ovary
10	chr2:21873400-21874200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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