Variant report

Variant	rs6759533
Chromosome Location	chr2:21862757-21862758
allele	A/C
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	GATA3	chr2:21862645-21863150	MCF-7	breast:	n/a	chr2:21862872-21862880
2	GATA2	chr2:21862662-21863025	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000235537	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11885530	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890428	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893111	0.90[EUR][1000 genomes]
rs11893913	0.95[EUR][1000 genomes]
rs11894171	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11897479	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11901833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11902625	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042814	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042818	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042879	0.95[EUR][1000 genomes]
rs2006198	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355148	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56259583	0.95[EUR][1000 genomes]
rs57064261	0.86[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	0.95[EUR][1000 genomes]
rs61350387	0.95[EUR][1000 genomes]
rs6547797	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547798	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547799	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547800	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547801	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547804	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708716	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6714387	0.95[EUR][1000 genomes]
rs6719475	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]
rs6721611	0.95[ASN][1000 genomes]
rs6722505	0.95[EUR][1000 genomes]
rs6731548	0.95[EUR][1000 genomes]
rs6737021	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737862	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750094	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751535	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6754905	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758775	0.89[AMR][1000 genomes];1.00[EUR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898237	1.00[EUR][1000 genomes]
rs72898238	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898259	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72898265	0.95[EUR][1000 genomes]
rs73919125	0.95[EUR][1000 genomes]
rs73919132	0.89[EUR][1000 genomes]
rs7583511	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584279	0.95[ASN][1000 genomes]
rs7594195	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595261	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599075	0.94[AFR][1000 genomes];0.93[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	chr2:21846600-21871200	Weak transcription	Aorta	Aorta
2	chr2:21857200-21865600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:21859400-21866200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:21862400-21863800	Enhancers	Liver	Liver
5	chr2:21862600-21862800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:21862600-21863000	Enhancers	Hela-S3	cervix
7	chr2:21862600-21863200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:21862600-21863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:21862600-21863200	Enhancers	Fetal Lung	lung
10	chr2:21862600-21872800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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