Variant report

Variant	rs2540747
Chromosome Location	chr16:52239714-52239715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10521259	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10521260	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1211507	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1211854	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12149054	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12446673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12919975	0.93[EUR][1000 genomes]
rs12920812	0.93[EUR][1000 genomes]
rs12921555	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12921894	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12931674	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362383	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362384	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1362385	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1362386	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1362387	0.95[EUR][1000 genomes]
rs1420203	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1420204	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1420205	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1420206	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1641352	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641364	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269910	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17353227	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17354016	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354393	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1894878	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2160274	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2192847	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2192848	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2216052	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2256155	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540690	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540691	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540692	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540746	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2540748	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3095532	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095533	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095553	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095561	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34483935	0.92[EUR][1000 genomes]
rs34646478	0.95[EUR][1000 genomes]
rs34936164	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35639867	0.93[EUR][1000 genomes]
rs35650351	0.91[EUR][1000 genomes]
rs4785133	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007517	0.88[EUR][1000 genomes]
rs5010123	0.99[EUR][1000 genomes]
rs7184216	0.86[EUR][1000 genomes]
rs7188574	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7189025	0.98[EUR][1000 genomes]
rs7189391	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7194603	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7200614	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201536	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7201636	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7202128	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7202303	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7205520	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206102	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206335	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206623	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8058391	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9646281	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv492248	chr16:51681902-52456082	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv34024	chr16:51878565-52316530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1058257	chr16:52093549-52271815	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1808	chr16:52214779-52247196	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	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	chr16:52239400-52243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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