Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr16:48180664-48180967	K562	blood:	n/a	n/a
2	BCL3	chr16:48180554-48181022	GM12878	blood:	n/a	n/a
3	BCL3	chr16:48180674-48180940	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:48180637-48181046	GM12892	blood:	n/a	n/a
5	NFATC1	chr16:48180576-48180957	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCC12	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11861127	0.85[EUR][1000 genomes]
rs11861448	0.83[AFR][1000 genomes]
rs16945869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17743256	0.82[EUR][1000 genomes]
rs41280939	0.82[EUR][1000 genomes]
rs57889627	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58298382	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61450339	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6500330	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193531	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018298	0.85[EUR][1000 genomes]
rs8049005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052732	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062641	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs957881	0.82[EUR][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48168200-48188800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:48172000-48186600	Weak transcription	Fetal Brain Male	brain

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