Variant report

Variant	rs283188
Chromosome Location	chr6:101742714-101742715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1234740	0.82[EUR][1000 genomes]
rs1338156	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1352039	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1832411	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1843487	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs189739	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1933356	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2350100	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2518177	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2579928	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2579930	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2629983	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2629989	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2797365	0.82[EUR][1000 genomes]
rs283182	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283207	0.83[EUR][1000 genomes]
rs283208	0.85[EUR][1000 genomes]
rs283211	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283227	0.85[EUR][1000 genomes]
rs283228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283229	0.85[EUR][1000 genomes]
rs386552	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406541	0.82[EUR][1000 genomes]
rs4103516	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs435519	0.82[EUR][1000 genomes]
rs439291	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs485947	0.85[EUR][1000 genomes]
rs516735	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs517552	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs550690	0.85[EUR][1000 genomes]
rs597750	0.80[EUR][1000 genomes]
rs606901	0.85[EUR][1000 genomes]
rs649828	0.85[EUR][1000 genomes]
rs683830	0.85[EUR][1000 genomes]
rs705629	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101741400-101743800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:101742000-101743200	Enhancers	NHEK	skin
3	chr6:101742000-101745000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:101742400-101744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:101742600-101742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:101742600-101742800	Weak transcription	HMEC	breast
7	chr6:101742600-101743400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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