Variant report

Variant	rs5762573
Chromosome Location	chr22:28763480-28763481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes]
rs10483150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs130411	1.00[AMR][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes]
rs134498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134502	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs134528	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs135649	0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes]
rs16986248	0.95[EUR][1000 genomes]
rs16986251	1.00[EUR][1000 genomes]
rs16986254	1.00[EUR][1000 genomes]
rs16986257	1.00[EUR][1000 genomes]
rs16986266	1.00[EUR][1000 genomes]
rs16986288	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16986311	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16986314	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16986400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16986451	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986469	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35438111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5762574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs79104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs79107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs79111	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
2	chr22:28754800-28766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:28759600-28763600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:28759800-28766000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:28759800-28777200	Weak transcription	Fetal Stomach	stomach
6	chr22:28760000-28766000	Weak transcription	Psoas Muscle	Psoas
7	chr22:28760000-28766000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:28760000-28771800	Weak transcription	Right Ventricle	heart
9	chr22:28760200-28768800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:28762200-28765400	Weak transcription	Dnd41	blood
11	chr22:28762600-28764200	Enhancers	HepG2	liver

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