Variant report

Variant	rs7539054
Chromosome Location	chr1:186618699-186618700
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10798051	0.80[EUR][1000 genomes]
rs10911890	0.80[EUR][1000 genomes]
rs10911892	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10911895	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10911898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911900	0.96[AFR][1000 genomes]
rs10911901	0.96[AFR][1000 genomes]
rs11805124	0.80[EUR][1000 genomes]
rs12076624	0.89[AFR][1000 genomes]
rs12087470	0.85[EUR][1000 genomes]
rs12402603	0.96[AFR][1000 genomes]
rs12409744	0.81[AFR][1000 genomes]
rs16825675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs20432	0.85[AFR][1000 genomes]
rs2143416	0.82[AFR][1000 genomes]
rs2383508	0.80[EUR][1000 genomes]
rs4422959	0.81[AFR][1000 genomes]
rs4648308	0.89[AFR][1000 genomes]
rs6425038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6689065	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698048	0.94[AFR][1000 genomes]
rs67816471	0.96[AFR][1000 genomes]
rs7518525	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9783052	0.92[AFR][1000 genomes]

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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186613600-186619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:186614400-186619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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