Variant report

Variant	rs2421950
Chromosome Location	chr1:171990169-171990170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171988685..171990317-chr1:171991796..171993486,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10157345	0.84[AFR][1000 genomes]
rs10158884	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10218612	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs10489730	0.83[ASW][hapmap]
rs1073940	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10797716	0.85[AFR][1000 genomes]
rs10797734	0.87[AFR][1000 genomes]
rs10910863	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs10910881	0.88[CEU][hapmap]
rs10910939	0.81[AFR][1000 genomes]
rs10910966	0.94[ASW][hapmap];0.98[LWK][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs10910969	0.87[AFR][1000 genomes]
rs11581104	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12028055	0.87[AFR][1000 genomes]
rs12037831	0.87[AFR][1000 genomes]
rs12077603	0.87[CEU][hapmap];0.83[MEX][hapmap]
rs12088862	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12090753	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12091784	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128720	0.81[AFR][1000 genomes]
rs12403863	0.94[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1555383	0.88[LWK][hapmap]
rs2038481	0.89[ASW][hapmap];0.87[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs2208367	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs2208371	0.88[CEU][hapmap];0.88[MEX][hapmap]
rs3736790	0.88[CEU][hapmap]
rs3736791	0.83[ASW][hapmap];0.89[LWK][hapmap];0.85[YRI][hapmap]
rs4399191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780414	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57907095	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59316397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6662250	0.87[CEU][hapmap]
rs6667114	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668552	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672365	0.88[CEU][hapmap]
rs6683503	0.84[AFR][1000 genomes]
rs6684633	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73037351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519236	0.87[AFR][1000 genomes]
rs7546327	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9286842	0.89[ASW][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 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	chr1:171980800-171993600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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