Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42524054..42526820-chr5:42527657..42530320,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13171720	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13184352	1.00[ASN][1000 genomes]
rs13187542	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17574527	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17575164	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28943878	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28943880	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33939197	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34975809	1.00[ASN][1000 genomes]
rs35003055	1.00[ASN][1000 genomes]
rs35185573	1.00[ASN][1000 genomes]
rs35525634	1.00[ASN][1000 genomes]
rs35920615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129472	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129645	1.00[ASN][1000 genomes]
rs56144821	1.00[ASN][1000 genomes]
rs67005744	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67277863	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67812331	1.00[ASN][1000 genomes]
rs67871277	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6863381	1.00[ASN][1000 genomes]
rs7703669	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7718962	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9763260	1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42516400-42525000	Enhancers	Adipose Nuclei	Adipose
2	chr5:42521400-42525000	Weak transcription	Psoas Muscle	Psoas
3	chr5:42521600-42526000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42522200-42527600	Weak transcription	Fetal Lung	lung
5	chr5:42522400-42532000	Weak transcription	Liver	Liver
6	chr5:42523800-42525200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:42524200-42529000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:42524800-42525000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:42524800-42525400	ZNF genes & repeats	Fetal Stomach	stomach

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