Variant report

Variant	rs2397222
Chromosome Location	chr6:56257821-56257822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1008768	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1008769	0.93[ASN][1000 genomes]
rs1008770	0.94[ASN][1000 genomes]
rs1014740	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1018414	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1018415	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11968073	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12205291	0.82[ASN][1000 genomes]
rs12528936	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13206552	0.94[ASN][1000 genomes]
rs2143349	0.91[ASN][1000 genomes]
rs2179519	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2206528	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2206530	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2894836	0.96[ASN][1000 genomes]
rs35253323	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4715621	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4715624	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs629057	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629506	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs643246	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs646884	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs669656	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs669728	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs926530	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296843	0.92[ASN][1000 genomes]
rs9349821	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9370527	0.94[ASN][1000 genomes]
rs9370530	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9382625	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382627	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382630	0.88[ASN][1000 genomes]
rs9396208	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9396209	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9942454	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56247400-56263600	Weak transcription	Small Intestine	intestine
2	chr6:56253000-56282600	Weak transcription	Aorta	Aorta
3	chr6:56253200-56258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56253600-56263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:56253800-56258800	Weak transcription	HepG2	liver
6	chr6:56253800-56263400	Weak transcription	Hela-S3	cervix

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