Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118145703..118148087-chr6:118150762..118152792,2	K562	blood:
2	chr6:118145867..118148087-chr6:118150158..118152792,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10457323	0.80[AMR][1000 genomes]
rs10457324	0.80[AMR][1000 genomes]
rs10499084	0.80[AMR][1000 genomes]
rs1160428	0.87[AMR][1000 genomes]
rs12192458	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12203409	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1323101	0.85[AMR][1000 genomes]
rs1416422	0.85[AMR][1000 genomes]
rs1980748	0.87[AMR][1000 genomes]
rs2139048	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2760240	0.85[AMR][1000 genomes]
rs2789013	0.87[AMR][1000 genomes]
rs4946304	0.85[AMR][1000 genomes]
rs6568991	0.85[AMR][1000 genomes]
rs6903073	0.82[AMR][1000 genomes]
rs912088	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9320624	0.82[AMR][1000 genomes]
rs9372488	0.80[AMR][1000 genomes]
rs9374683	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9374685	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9374691	0.85[AMR][1000 genomes]
rs9387517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9387518	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9387531	0.80[AMR][1000 genomes]
rs9398464	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9398465	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9398468	0.80[AMR][1000 genomes]
rs9401031	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv830786	chr6:118026955-118201660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118144600-118149800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:118145600-118150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118146400-118150600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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