Variant report

Variant	rs3886275
Chromosome Location	chr2:57973344-57973345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57967586..57970326-chr2:57972561..57975358,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10186791	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10195687	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10196378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10204616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1040224	0.80[JPT][hapmap]
rs1040225	0.81[JPT][hapmap]
rs10496076	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10496078	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10496079	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10865304	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1106302	0.85[JPT][hapmap]
rs11898858	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12713358	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12990792	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12997222	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13402331	0.88[EUR][1000 genomes]
rs13418015	0.89[EUR][1000 genomes]
rs1402398	0.83[EUR][1000 genomes]
rs1460255	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1568450	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1589407	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2090793	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2290867	0.89[EUR][1000 genomes]
rs2465804	0.80[JPT][hapmap]
rs2678870	0.80[JPT][hapmap]
rs2678880	0.82[CEU][hapmap]
rs2678901	0.81[JPT][hapmap]
rs2678903	0.81[JPT][hapmap]
rs2678905	0.81[JPT][hapmap]
rs2678906	0.80[JPT][hapmap]
rs2678908	0.82[CEU][hapmap]
rs2683614	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2683616	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2683619	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2683620	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2683628	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2683629	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2717001	0.82[CEU][hapmap]
rs2717002	0.82[CEU][hapmap]
rs2717004	0.80[JPT][hapmap]
rs2717006	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs2717018	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2717019	0.80[JPT][hapmap]
rs2717048	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2717075	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2953439	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2953441	0.83[EUR][1000 genomes]
rs4296411	0.85[AMR][1000 genomes]
rs4672223	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545663	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545664	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545665	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6720888	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6730037	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6737913	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6756221	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761347	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7561842	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7588492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7598169	0.83[EUR][1000 genomes]
rs970941	0.85[JPT][hapmap]

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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57973000-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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