Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:51475687..51477210-chr12:51574372..51576503,2	K562	blood:
2	chr12:51574575..51576474-chr12:51592776..51594992,2	K562	blood:
3	chr12:51573087..51575284-chr12:51583237..51585121,2	K562	blood:
4	chr12:51566336..51568392-chr12:51573157..51575134,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10876150	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169733	0.92[EUR][1000 genomes]
rs11169734	0.92[EUR][1000 genomes]
rs11169735	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169738	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169740	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169741	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169747	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169751	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2452796	0.92[EUR][1000 genomes]
rs2640515	0.92[EUR][1000 genomes]
rs2640518	0.92[EUR][1000 genomes]
rs28392616	0.92[EUR][1000 genomes]
rs2934092	0.88[EUR][1000 genomes]
rs2956427	0.92[EUR][1000 genomes]
rs4768971	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6580802	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7136657	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7305956	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7309374	0.92[EUR][1000 genomes]
rs7399090	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7959264	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7964762	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7974242	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7980006	0.81[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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51577200	Weak transcription	Fetal Kidney	kidney
2	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
5	chr12:51574800-51583400	Weak transcription	Aorta	Aorta

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