Variant report

Variant	rs904241
Chromosome Location	chr3:180264743-180264744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180231398..180234101-chr3:180263893..180266874,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11713314	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13327745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1497891	0.88[EUR][1000 genomes]
rs2133007	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2338436	1.00[CHD][hapmap]
rs2338578	0.81[AFR][1000 genomes]
rs28371986	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28595523	1.00[CHD][hapmap];0.97[GIH][hapmap]
rs28722789	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4519701	0.94[CEU][hapmap]
rs56406114	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57668336	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6443696	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs6443700	0.94[GIH][hapmap];0.94[LWK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6443701	0.80[AMR][1000 genomes]
rs6791597	0.87[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7611683	0.82[AFR][1000 genomes]
rs7627008	0.89[AFR][1000 genomes]
rs7633153	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7633440	0.82[AFR][1000 genomes]
rs7633630	0.96[EUR][1000 genomes]
rs7636793	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7637098	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645817	0.81[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7647003	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7647210	0.87[CEU][hapmap];0.94[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7650672	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9832393	0.82[EUR][1000 genomes]
rs9840876	0.96[EUR][1000 genomes]
rs9851773	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9866700	0.96[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	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs904241	IGF2BP2	cis	parietal	SCAN
rs904241	TTC14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180264200-180266000	Weak transcription	Ovary	ovary

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