Variant report

Variant	rs73589254
Chromosome Location	chr8:54843147-54843148
allele	C/T
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]
rs55665326	1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs59612810	1.00[EUR][1000 genomes]
rs60106847	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524906	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654796	1.00[EUR][1000 genomes]
rs7012717	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	1.00[EUR][1000 genomes]
rs73587690	1.00[EUR][1000 genomes]
rs73589210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589241	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680378	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842748	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	1.00[EUR][1000 genomes]
rs7846507	0.91[AMR][1000 genomes];1.00[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:18 , 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	chr8:54829200-54843400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:54830800-54843400	Weak transcription	HMEC	breast
5	chr8:54830800-54844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:54831000-54843200	Weak transcription	NHEK	skin
7	chr8:54835600-54843400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:54841400-54845800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:54842000-54843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:54842200-54843400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:54842400-54843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54842400-54843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:54842600-54845200	ZNF genes & repeats	A549	lung
14	chr8:54842600-54845600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:54843000-54844000	Strong transcription	NHLF	lung
16	chr8:54843000-54845600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:54843000-54845800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:54843000-54845800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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