Variant report

Variant	rs6547800
Chromosome Location	chr2:21863953-21863954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11885530	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11890428	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11894171	0.86[ASN][1000 genomes]
rs11897479	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11901833	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11902625	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042814	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17042818	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2006198	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4355148	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57064261	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58410505	0.95[ASN][1000 genomes]
rs60022239	0.95[ASN][1000 genomes]
rs6547797	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547798	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547799	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547802	0.92[EUR][1000 genomes]
rs6547803	0.92[EUR][1000 genomes]
rs6547804	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6708716	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6719475	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6721611	0.95[ASN][1000 genomes]
rs6737021	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6737862	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6750094	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6751535	0.82[ASN][1000 genomes]
rs6754905	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6758353	0.92[EUR][1000 genomes]
rs6758775	0.85[AMR][1000 genomes]
rs6759533	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72898229	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72898238	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72898259	0.88[AMR][1000 genomes]
rs7583511	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7584279	0.95[ASN][1000 genomes]
rs7594195	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7595261	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7599075	0.89[AMR][1000 genomes];1.00[ASN][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:8 , 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	chr2:21862600-21872800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:21863000-21876000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:21863200-21864400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:21863200-21864800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:21863200-21866800	Weak transcription	Fetal Lung	lung

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