Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:4713543-4714587	SK-N-SH	brain:	n/a	n/a
2	MAZ	chr12:4713533-4714501	IMR90	lung:	n/a	n/a
3	CTCF	chr12:4713437-4714437	SK-N-SH	brain:	n/a	chr12:4713977-4713990
4	CTCF	chr12:4713545-4714711	A549	lung:	n/a	chr12:4713977-4713990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:
2	chr12:4712752..4714423-chr12:4719213..4721715,2	K562	blood:

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

rs_ID	r²[population]
rs1008578	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10744653	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10744654	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10774245	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11063253	0.86[EUR][1000 genomes]
rs12303320	0.94[EUR][1000 genomes]
rs12313377	0.88[EUR][1000 genomes]
rs12828416	0.90[EUR][1000 genomes]
rs1860343	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1974602	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2041293	0.84[EUR][1000 genomes]
rs2286576	0.88[EUR][1000 genomes]
rs2299833	0.88[EUR][1000 genomes]
rs2302248	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2884671	0.89[EUR][1000 genomes]
rs35131771	0.91[EUR][1000 genomes]
rs4766260	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136668	0.84[EUR][1000 genomes]
rs720673	0.83[EUR][1000 genomes]
rs7300543	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs730065	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7305150	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7972737	0.90[EUR][1000 genomes]
rs7975484	0.91[EUR][1000 genomes]
rs7977981	0.91[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1860344	DYRK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4709000-4713800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:4709400-4713800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:4712400-4713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:4713200-4713600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:4713200-4713600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:4713400-4713600	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:4713400-4713600	Enhancers	Dnd41	blood

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