Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4158340..4161445-chr12:4167937..4171532,3	K562	blood:
2	chr12:4165421..4167716-chr12:4167948..4169953,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10774193	0.81[EUR][1000 genomes]
rs10848976	0.93[AMR][1000 genomes]
rs10848978	0.81[JPT][hapmap];0.85[AMR][1000 genomes]
rs10848981	0.83[EUR][1000 genomes]
rs10848982	0.83[EUR][1000 genomes]
rs11062989	0.89[AMR][1000 genomes]
rs11062992	0.84[AMR][1000 genomes]
rs11062999	0.81[AMR][1000 genomes]
rs11063000	0.84[AMR][1000 genomes]
rs11063002	0.83[EUR][1000 genomes]
rs11063003	0.83[EUR][1000 genomes]
rs12231207	0.84[AMR][1000 genomes]
rs2003578	0.83[EUR][1000 genomes]
rs2003579	0.83[EUR][1000 genomes]
rs2072497	0.84[AMR][1000 genomes]
rs2098332	0.92[EUR][1000 genomes]
rs2247533	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358593	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358594	0.89[AMR][1000 genomes]
rs2724204	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4765762	0.87[AMR][1000 genomes]
rs4765767	0.84[AMR][1000 genomes]
rs4765769	0.84[AMR][1000 genomes]
rs741243	0.89[AMR][1000 genomes]
rs741244	0.83[EUR][1000 genomes]
rs741245	0.83[EUR][1000 genomes]
rs759312	0.83[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4169000-4169800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:4169000-4170000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:4169000-4170200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4169000-4170200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:4169200-4169600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4169200-4170200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:4169200-4170200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:4169200-4170400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:4169400-4170000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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