Variant report

Variant	rs13002424
Chromosome Location	chr2:182075588-182075589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182073844..182076497-chr2:182076858..182079352,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10171108	0.85[JPT][hapmap]
rs10171998	0.85[JPT][hapmap]
rs10187842	0.85[JPT][hapmap]
rs10930950	0.85[JPT][hapmap]
rs11678840	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11684463	0.97[ASN][1000 genomes]
rs11692625	0.84[AMR][1000 genomes]
rs11693055	0.81[AMR][1000 genomes]
rs13020845	1.00[JPT][hapmap]
rs13029217	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033038	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13035276	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34366526	0.98[ASN][1000 genomes]
rs34405919	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34467063	0.83[AMR][1000 genomes]
rs34700861	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790351	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110674	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190308	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250663	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35357451	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35598315	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35702511	0.84[AMR][1000 genomes]
rs4432412	0.98[ASN][1000 genomes]
rs4514840	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56085338	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096261	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433883	0.85[JPT][hapmap]
rs6706397	0.85[JPT][hapmap]
rs6709702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710650	0.85[JPT][hapmap]
rs6713632	0.98[ASN][1000 genomes]
rs6716261	0.81[AMR][1000 genomes]
rs6719732	0.81[AMR][1000 genomes]
rs6724365	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744130	0.85[JPT][hapmap]
rs6745190	0.85[JPT][hapmap]
rs6752921	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890540	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7371639	0.85[JPT][hapmap]
rs7569991	0.85[JPT][hapmap]
rs7581267	0.83[AMR][1000 genomes]
rs7598010	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9808318	0.82[JPT][hapmap]

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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 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	chr2:182074800-182087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:182075400-182075600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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