Variant report

Variant	rs4668375
Chromosome Location	chr2:172081096-172081097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10203397	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1035250	0.82[ASW][hapmap];0.86[GIH][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10930459	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11674962	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687843	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11887065	0.82[EUR][1000 genomes]
rs11893921	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11893993	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12473405	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004356	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13413830	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs17283355	0.93[TSI][hapmap]
rs4667676	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667678	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4668372	0.82[EUR][1000 genomes]
rs4668374	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60254168	0.85[EUR][1000 genomes]
rs6433284	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6713640	0.82[ASW][hapmap];0.83[CEU][hapmap];0.89[GIH][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs6724085	0.89[ASW][hapmap];0.83[CEU][hapmap];0.91[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6737873	0.81[EUR][1000 genomes]
rs7568175	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs7582508	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172073600-172081600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172077200-172083600	Weak transcription	Placenta	Placenta
3	chr2:172078400-172081600	Weak transcription	K562	blood
4	chr2:172081000-172081600	Enhancers	NHEK	skin

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