Variant report

Variant	rs12528075
Chromosome Location	chr6:80710200-80710201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80708516..80710306-chr6:80712174..80714398,2	K562	blood:

Variant related genes	Relation type
ENSG00000112742	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12524041	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12524658	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12528948	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12529133	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1550035	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17174951	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17175251	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17176133	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17254389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17254634	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1801460	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1801465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4547972	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs45495802	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613770	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4642425	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55956173	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56219628	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56302322	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62405965	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405967	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62405994	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62405995	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62405997	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62405999	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62406015	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62406016	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7765797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7769377	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80703800-80713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:80704200-80712600	Weak transcription	Fetal Thymus	thymus
3	chr6:80705000-80712600	Weak transcription	Thymus	Thymus
4	chr6:80710200-80710400	Enhancers	Esophagus	oesophagus

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