Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10355658..10357662-chr12:10364839..10366369,2	K562	blood:

Variant related genes	Relation type
ENSG00000139112	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10734818	1.00[ASN][1000 genomes]
rs10772243	0.98[EUR][1000 genomes]
rs10845052	1.00[ASN][1000 genomes]
rs10845069	0.98[EUR][1000 genomes]
rs10845070	0.98[EUR][1000 genomes]
rs11834419	0.93[EUR][1000 genomes]
rs17740817	1.00[ASN][1000 genomes]
rs34300167	1.00[ASN][1000 genomes]
rs34733039	1.00[ASN][1000 genomes]
rs34925630	1.00[ASN][1000 genomes]
rs35311664	1.00[ASN][1000 genomes]
rs35335503	1.00[ASN][1000 genomes]
rs35492478	1.00[ASN][1000 genomes]
rs4322502	0.96[EUR][1000 genomes]
rs4326886	0.93[EUR][1000 genomes]
rs4764321	0.98[EUR][1000 genomes]
rs6488266	1.00[ASN][1000 genomes]
rs7135302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136468	0.93[EUR][1000 genomes]
rs73258633	1.00[ASN][1000 genomes]
rs73258637	1.00[ASN][1000 genomes]
rs7964641	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr12:10356000-10357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:10356000-10358000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:10356400-10357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:10357000-10357400	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:10357200-10358800	Enhancers	Hela-S3	cervix
6	chr12:10357200-10359200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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