Variant report

Variant	rs17448392
Chromosome Location	chr4:21189870-21189871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10034038	0.86[CHD][hapmap]
rs10516374	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10938827	0.82[JPT][hapmap]
rs10938837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11730710	0.84[ASN][1000 genomes]
rs12644882	0.82[JPT][hapmap]
rs12644941	0.80[JPT][hapmap]
rs12647437	0.82[JPT][hapmap]
rs1364832	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs1364833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1364838	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1364839	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17445800	1.00[JPT][hapmap]
rs17446667	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs17447922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17447985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17448106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17505566	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17506080	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs17506108	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs17513252	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs17636197	0.82[JPT][hapmap]
rs17637027	0.82[JPT][hapmap]
rs2113966	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs2162080	0.92[ASN][1000 genomes]
rs2163933	0.88[JPT][hapmap]
rs28721307	0.96[ASN][1000 genomes]
rs2874892	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3864185	0.98[ASN][1000 genomes]
rs56052027	0.89[ASN][1000 genomes]
rs6835991	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs6845961	0.86[CHD][hapmap]
rs6854888	0.82[JPT][hapmap]
rs720852	0.93[JPT][hapmap]
rs720853	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv4264	chr4:21138131-21199262	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv878749	chr4:21189870-21236883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21189200-21192400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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