Variant report

Variant	rs2540139
Chromosome Location	chr12:4170312-4170313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10774197	0.82[CEU][hapmap]
rs10848976	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10848978	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes]
rs10848979	0.90[EUR][1000 genomes]
rs10848981	0.83[CEU][hapmap]
rs10848982	0.83[CEU][hapmap]
rs10848983	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs10848984	0.88[EUR][1000 genomes]
rs11062989	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11062992	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11062999	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11063000	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11063004	0.91[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs11063007	0.81[EUR][1000 genomes]
rs11063008	0.83[EUR][1000 genomes]
rs11063009	0.83[EUR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs12230013	0.87[EUR][1000 genomes]
rs12231207	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12579541	0.83[EUR][1000 genomes]
rs12579556	0.83[EUR][1000 genomes]
rs12579813	0.83[EUR][1000 genomes]
rs2072497	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2110592	0.83[EUR][1000 genomes]
rs2160160	0.83[EUR][1000 genomes]
rs2160161	0.83[EUR][1000 genomes]
rs2247533	0.82[AMR][1000 genomes]
rs2358593	0.91[AMR][1000 genomes]
rs2358594	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358836	0.83[EUR][1000 genomes]
rs2358837	0.83[EUR][1000 genomes]
rs2724204	0.85[AMR][1000 genomes]
rs3889565	0.86[EUR][1000 genomes]
rs4765762	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4765767	0.98[EUR][1000 genomes]
rs4765769	0.93[EUR][1000 genomes]
rs4766207	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs4766208	0.82[EUR][1000 genomes]
rs4766209	0.83[EUR][1000 genomes]
rs4766211	0.83[EUR][1000 genomes]
rs58334161	0.83[EUR][1000 genomes]
rs59759498	0.86[EUR][1000 genomes]
rs60789908	0.86[EUR][1000 genomes]
rs6489518	0.83[EUR][1000 genomes]
rs7136346	0.83[EUR][1000 genomes]
rs741243	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs759306	0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs7975418	0.96[EUR][1000 genomes]
rs9634153	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4169200-4170400	Enhancers	HUES64 Cell Line	embryonic stem cell

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