Variant report

Variant	rs526991
Chromosome Location	chr7:84013205-84013206
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	chr7:84013138..84015121-chr7:84015811..84018130,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11973476	0.83[ASN][1000 genomes]
rs1228866	0.98[ASN][1000 genomes]
rs1228868	0.98[ASN][1000 genomes]
rs1228946	0.87[ASN][1000 genomes]
rs1228951	0.95[ASN][1000 genomes]
rs1228956	0.95[ASN][1000 genomes]
rs13227369	0.87[ASN][1000 genomes]
rs1520102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1557791	0.87[ASN][1000 genomes]
rs1634605	0.96[ASN][1000 genomes]
rs16887703	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1715518	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17158998	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17159006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1922349	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2106965	0.87[ASN][1000 genomes]
rs2214362	0.82[ASN][1000 genomes]
rs2214749	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2428807	0.95[ASN][1000 genomes]
rs2527522	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527527	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527529	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527530	0.86[ASN][1000 genomes]
rs2527532	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2527533	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527535	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527536	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2527537	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2527538	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2706903	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2706904	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2706905	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2706912	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2706913	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2706916	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2715032	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2715037	0.85[ASN][1000 genomes]
rs2715044	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715045	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715046	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715047	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2888322	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4016106	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs520178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs529539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530698	0.98[ASN][1000 genomes]
rs531582	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555632	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs559041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56144625	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs561955	0.98[ASN][1000 genomes]
rs620373	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs625480	0.98[ASN][1000 genomes]
rs73711542	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73711549	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7783073	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1023848	chr7:83985028-84101774	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761342	chr7:83985028-84101798	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv534431	chr7:84001059-84138511	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr7:84003400-84013800	Weak transcription	NHDF-Ad	bronchial
2	chr7:84012800-84014000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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