Variant report

Variant	rs2128821
Chromosome Location	chr8:54843613-54843614
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10089614	0.90[EUR][1000 genomes]
rs10090669	0.90[EUR][1000 genomes]
rs10098863	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11984817	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11986028	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264421	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13267128	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13267284	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13278745	0.95[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs16919680	0.95[CEU][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2128820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28711043	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34749392	0.94[EUR][1000 genomes]
rs35583538	0.93[EUR][1000 genomes]
rs35636630	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35977614	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58093835	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58507961	0.93[EUR][1000 genomes]
rs6473897	0.92[EUR][1000 genomes]
rs6473898	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984470	0.92[EUR][1000 genomes]
rs6987892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990456	0.90[EUR][1000 genomes]
rs6992137	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7011248	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7016925	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822718	0.94[EUR][1000 genomes]
rs7824575	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7843603	0.83[AMR][1000 genomes];0.95[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54830800-54844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:54841400-54845800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54842600-54845200	ZNF genes & repeats	A549	lung
4	chr8:54842600-54845600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:54843000-54844000	Strong transcription	NHLF	lung
6	chr8:54843000-54845600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:54843000-54845800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:54843000-54845800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:54843200-54844600	ZNF genes & repeats	NHEK	skin
10	chr8:54843200-54845400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:54843400-54844000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54843400-54844400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:54843400-54845600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:54843400-54845600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:54843400-54846000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr8:54843600-54843800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:54843600-54845000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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