Variant report

Variant	rs17043590
Chromosome Location	chr2:53084609-53084610
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:37)

rs_ID	r²[population]
rs10490579	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10490583	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17043472	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17043496	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17043734	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17043739	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17043781	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs17043797	0.85[CEU][hapmap]
rs17571144	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2116006	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs34049687	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4672007	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55778790	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286124	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62128173	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62128174	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62128201	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62128203	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62128205	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62138243	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62138246	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62138247	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62138248	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62138249	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62138250	0.80[EUR][1000 genomes]
rs62140275	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62140277	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62140278	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62140279	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62140280	0.83[AMR][1000 genomes]
rs62140281	0.81[AMR][1000 genomes]
rs62140283	0.80[EUR][1000 genomes]
rs62140284	0.80[EUR][1000 genomes]
rs62140285	0.80[EUR][1000 genomes]
rs62140287	1.00[ASN][1000 genomes]
rs725865	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72808339	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv3435550	chr2:53069350-53092313	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1010237	chr2:53072736-53116413	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53083800-53085800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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