Variant report

Variant	rs443386
Chromosome Location	chr1:158655418-158655419
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10908689	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10908690	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807176	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs11808295	0.86[AFR][1000 genomes]
rs13375717	1.00[AMR][1000 genomes]
rs167819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2427800	1.00[AMR][1000 genomes]
rs2427801	1.00[AMR][1000 genomes]
rs2427802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482950	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482955	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2482958	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2482967	1.00[AMR][1000 genomes]
rs2494031	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2511194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511195	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511197	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511199	1.00[YRI][hapmap]
rs2564857	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2564858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564859	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2852638	0.89[ASW][hapmap];1.00[AMR][1000 genomes]
rs2990516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs326000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs365037	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368029	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs378794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs405879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs414409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs423141	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs428594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs431295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs435080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs439265	0.81[AFR][1000 genomes]
rs448387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450889	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427446	1.00[YRI][hapmap]
rs6682506	1.00[ASW][hapmap];0.96[LWK][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs703132	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][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	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv872482	chr1:158635852-158698532	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv872483	chr1:158635852-158712510	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr1:158652200-158656200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:158655200-158657000	Active TSS	K562	blood

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