Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:48213781..48216424-chr4:48297203..48298940,2	K562	blood:
2	chr4:48173393..48175271-chr4:48298166..48300256,2	K562	blood:
3	chr4:48295757..48299947-chr4:48300820..48304359,4	K562	blood:
4	chr4:48294874..48299158-chr4:48300568..48304359,7	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11723080	0.91[EUR][1000 genomes]
rs1812667	0.85[AMR][1000 genomes]
rs2271265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309887	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695369	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55784928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55860639	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309366	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309367	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62309371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309393	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309398	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62309399	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62309400	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62309401	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62309402	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62311477	0.84[AMR][1000 genomes]
rs62311483	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62311497	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6833004	0.91[AMR][1000 genomes];0.91[EUR][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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48296800-48298400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:48297200-48298400	Enhancers	GM12878-XiMat	blood
3	chr4:48297800-48298800	Enhancers	Fetal Brain Male	brain
4	chr4:48297800-48299200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:48297800-48299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:48297800-48300600	Weak transcription	Osteobl	bone

Quick Search: