Variant report

Variant	rs2920512
Chromosome Location	chr5:89440638-89440639
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	chr5:89440122..89441898-chr5:89710102..89712875,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2910780	1.00[EUR][1000 genomes]
rs2920506	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920513	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2920514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2950027	1.00[EUR][1000 genomes]
rs2950037	0.84[AFR][1000 genomes]
rs2973368	1.00[EUR][1000 genomes]
rs2973390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973393	0.88[AFR][1000 genomes]
rs2973394	0.83[AFR][1000 genomes]
rs2973395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4484462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56203383	1.00[AMR][1000 genomes]
rs60813111	1.00[AMR][1000 genomes]
rs73772621	1.00[AMR][1000 genomes]
rs73772622	1.00[AMR][1000 genomes]
rs73772625	1.00[AMR][1000 genomes]
rs73772627	1.00[AMR][1000 genomes]
rs7701362	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	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv882362	chr5:89437963-89604380	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:89432200-89442600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:89432200-89442600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:89438600-89441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:89439600-89441000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:89439800-89440800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:89440000-89441600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:89440200-89441000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:89440200-89441000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:89440200-89441000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:89440200-89441000	Enhancers	HUVEC	blood vessel
11	chr5:89440200-89441200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:89440400-89441000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:89440600-89442600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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