Variant report

Variant	rs1417441
Chromosome Location	chr1:70218696-70218697
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70217391..70220206-chr1:70220660..70223885,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1071873	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889849	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10889850	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209528	0.95[CEU][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209529	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209530	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209532	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11209536	0.92[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap]
rs12036373	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12042844	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12565200	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264338	0.88[ASN][1000 genomes]
rs1268441	0.92[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs1340766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340767	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417443	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1417444	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1612509	0.88[ASN][1000 genomes]
rs17397812	0.92[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap]
rs1796964	0.92[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2000091	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs2007721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61783996	0.84[ASN][1000 genomes]
rs6667737	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686211	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700510	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765795	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs969051	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs987013	0.92[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70214200-70233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70217800-70219800	Enhancers	Fetal Brain Female	brain
3	chr1:70218400-70218800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:70218400-70219000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:70218400-70219200	Enhancers	Fetal Brain Male	brain
6	chr1:70218400-70219800	Enhancers	NHEK	skin
7	chr1:70218400-70223000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:70218600-70220000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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