Variant report

Variant	rs17043496
Chromosome Location	chr2:53051195-53051196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10221577	0.91[ASN][1000 genomes]
rs10490579	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10490583	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451464	0.91[ASN][1000 genomes]
rs1451466	0.91[ASN][1000 genomes]
rs17039478	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17043472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043590	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17043734	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17043739	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17043781	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17043797	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17043801	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17043805	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17043807	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17043809	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17571144	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17676663	0.91[ASN][1000 genomes]
rs2116006	1.00[CEU][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2218874	0.91[ASN][1000 genomes]
rs2603392	0.91[ASN][1000 genomes]
rs34049687	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392646	0.82[EUR][1000 genomes]
rs4672007	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778790	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56286124	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58269079	0.82[EUR][1000 genomes]
rs62127030	1.00[ASN][1000 genomes]
rs62128173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128174	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128201	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128203	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128205	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138243	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62138246	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62138247	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62138248	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62138249	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62138250	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140275	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140277	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140278	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140279	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140280	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62140281	0.97[AMR][1000 genomes]
rs62140283	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140284	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140285	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62140286	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62140287	0.86[EUR][1000 genomes]
rs62140292	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs725865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793423	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72793432	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72806386	1.00[ASN][1000 genomes]
rs72806390	1.00[ASN][1000 genomes]
rs72808329	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72808339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834047	chr2:52874257-53056239	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv874135	chr2:52937317-53061834	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv431058	chr2:52944395-53057924	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv524806	chr2:53013320-53052480	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv581976	chr2:53013320-53056546	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1011670	chr2:53013320-53058194	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv581977	chr2:53023825-53056546	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17043496	XM_065432	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53050600-53051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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