Variant report

Variant	rs12154976
Chromosome Location	chr7:120410201-120410202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120405855..120408351-chr7:120408929..120411570,2	K562	blood:
2	chr7:120409103..120411703-chr7:121034289..121036639,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10266755	0.86[CEU][hapmap]
rs114420	0.99[EUR][1000 genomes]
rs11976580	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17132731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17142976	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap]
rs2107275	0.82[CEU][hapmap]
rs2189974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs2525710	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2721330	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2721332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2721346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3823861	0.91[CEU][hapmap]
rs41612	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41613	0.97[EUR][1000 genomes]
rs41614	0.85[EUR][1000 genomes]
rs41616	0.96[EUR][1000 genomes]
rs41617	0.95[EUR][1000 genomes]
rs41619	0.85[EUR][1000 genomes]
rs41620	0.83[EUR][1000 genomes]
rs41622	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs41623	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs41624	0.91[CEU][hapmap]
rs41626	0.95[EUR][1000 genomes]
rs41629	0.82[CEU][hapmap]
rs41632	0.91[CEU][hapmap]
rs42333	0.93[EUR][1000 genomes]
rs4730982	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7805733	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs7810542	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs886440	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12154976	FLJ21986	cis	multi-tissue	Pritchard
rs12154976	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120407000-120414600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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