Variant report

Variant	rs9939554
Chromosome Location	chr16:48520841-48520842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001872	0.81[EUR][1000 genomes]
rs11076569	0.87[EUR][1000 genomes]
rs11641936	0.90[EUR][1000 genomes]
rs11643514	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11648225	0.90[EUR][1000 genomes]
rs11865776	0.87[EUR][1000 genomes]
rs1566466	0.90[EUR][1000 genomes]
rs1566467	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1948713	0.81[EUR][1000 genomes]
rs2062553	0.87[EUR][1000 genomes]
rs2062554	0.87[EUR][1000 genomes]
rs2062555	0.87[EUR][1000 genomes]
rs2088753	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2088754	0.91[EUR][1000 genomes]
rs4785520	0.91[EUR][1000 genomes]
rs4785521	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55745119	0.93[EUR][1000 genomes]
rs56207849	0.83[EUR][1000 genomes]
rs7194822	0.88[EUR][1000 genomes]
rs7202699	0.81[EUR][1000 genomes]
rs7206781	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8052026	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8054389	0.81[EUR][1000 genomes]
rs8056201	0.90[EUR][1000 genomes]
rs8056346	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8063059	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9888862	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9889065	0.87[EUR][1000 genomes]
rs9889067	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9921402	0.87[EUR][1000 genomes]
rs9923092	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9925108	0.81[EUR][1000 genomes]
rs9925138	0.80[EUR][1000 genomes]
rs9926683	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9933892	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9937129	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9939368	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9940599	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9941289	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	esv1817281	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1842977	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1849228	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1065358	chr16:48513824-48554254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48516200-48524600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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