Variant report

Variant	rs56207849
Chromosome Location	chr16:48496095-48496096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11076569	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11641936	0.85[EUR][1000 genomes]
rs11643514	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11644887	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648225	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11865776	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1566466	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1566467	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2062553	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2062554	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2062555	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2088753	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2088754	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4785244	0.94[ASN][1000 genomes]
rs4785520	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4785521	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55745119	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7184700	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7194822	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7198215	0.95[ASN][1000 genomes]
rs7198420	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7203475	0.98[ASN][1000 genomes]
rs7206781	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8052026	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8054696	0.95[ASN][1000 genomes]
rs8056201	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8056346	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8063059	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9888862	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9889065	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9889067	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9921402	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9923092	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9926683	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9933892	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9937129	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9939368	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9939554	0.83[EUR][1000 genomes]
rs9940599	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9941289	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr16:48493400-48496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:48495200-48497000	Enhancers	NHEK	skin
3	chr16:48495200-48497200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:48495600-48497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48495600-48497200	Enhancers	Hela-S3	cervix
6	chr16:48495600-48497200	Enhancers	HMEC	breast
7	chr16:48495800-48496600	Enhancers	Primary B cells from peripheral blood	blood
8	chr16:48496000-48497000	Enhancers	A549	lung

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