Variant report

Variant	rs1997209
Chromosome Location	chr2:178512355-178512356
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	chr2:178504624..178506864-chr2:178511497..178514484,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10189303	1.00[JPT][hapmap]
rs10469714	1.00[JPT][hapmap]
rs10497493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680632	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618542	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs12619506	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13000926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010396	1.00[JPT][hapmap]
rs13014512	0.83[EUR][1000 genomes]
rs13019660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13034886	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1405716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527398	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1527399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527400	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1527402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527410	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534304	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs1544003	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1547580	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1547581	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1547582	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16865535	0.84[CHD][hapmap]
rs1997208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091442	0.80[AFR][1000 genomes]
rs2293471	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs2365619	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2886422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731802	1.00[JPT][hapmap]
rs3770003	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893972	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4893974	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893975	0.84[CEU][hapmap];0.95[CHD][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893976	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893977	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433683	0.98[EUR][1000 genomes]
rs6705405	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6730406	0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs6734426	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs6734683	1.00[JPT][hapmap]
rs7422544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577174	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7591796	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7591897	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7594290	0.84[CHD][hapmap]
rs941276	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr2:178509000-178516600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:178512000-178516400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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