Variant report

Variant	rs2173228
Chromosome Location	chr4:55706585-55706586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1123272	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1497476	0.85[EUR][1000 genomes]
rs1497477	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1497491	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1497492	0.92[ASN][1000 genomes]
rs17695485	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1948607	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055222	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132879	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2132880	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2646314	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2646316	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646317	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646318	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646319	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646320	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646351	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646355	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2646364	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2646365	0.92[ASN][1000 genomes]
rs2646368	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2646369	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726610	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2726612	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726613	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726619	0.95[ASN][1000 genomes]
rs2726620	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2726621	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2726623	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726626	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2726627	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2726628	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726629	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726630	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2726631	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726632	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28628137	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280801	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4345236	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716919	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7662457	0.88[AMR][1000 genomes]
rs7668976	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7686543	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7692346	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7697169	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs871692	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs871693	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs871694	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55704000-55708400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:55704200-55707400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:55704200-55708600	Weak transcription	Fetal Lung	lung
4	chr4:55704400-55708400	Weak transcription	Brain Germinal Matrix	brain
5	chr4:55704600-55712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:55704800-55706600	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:55704800-55706800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:55705600-55711400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:55705800-55706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:55706000-55708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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