Variant report

Variant	rs7822718
Chromosome Location	chr8:54833571-54833572
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	chr8:54830055..54832421-chr8:54833337..54834914,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10089614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10090669	0.92[EUR][1000 genomes]
rs10098863	0.97[EUR][1000 genomes]
rs11984817	0.96[EUR][1000 genomes]
rs11986028	0.96[EUR][1000 genomes]
rs13264421	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267128	0.96[EUR][1000 genomes]
rs13267284	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13278745	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919680	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2128820	0.93[EUR][1000 genomes]
rs2128821	0.94[EUR][1000 genomes]
rs2375866	0.94[EUR][1000 genomes]
rs28711043	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34749392	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35583538	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35636630	0.86[EUR][1000 genomes]
rs35977614	0.91[EUR][1000 genomes]
rs58093835	0.96[EUR][1000 genomes]
rs58507961	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473897	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6473898	0.84[EUR][1000 genomes]
rs6984470	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987892	0.95[EUR][1000 genomes]
rs6990456	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6992137	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011248	0.92[EUR][1000 genomes]
rs7016925	0.97[EUR][1000 genomes]
rs7824575	0.96[EUR][1000 genomes]
rs7843603	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54818600-54843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:54828000-54843600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:54828400-54842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:54829200-54843400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:54830600-54837200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:54830800-54843400	Weak transcription	HMEC	breast
7	chr8:54830800-54844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:54831000-54840000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:54831000-54842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:54831000-54843200	Weak transcription	NHEK	skin
11	chr8:54831200-54837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:54831400-54841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:54833000-54834200	ZNF genes & repeats	A549	lung

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