Variant report

Variant	rs8088992
Chromosome Location	chr18:12162190-12162191
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11873244	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12458258	1.00[CHB][hapmap]
rs12963789	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12971215	0.85[EUR][1000 genomes]
rs1962196	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28481830	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2849395	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs2849397	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs2851911	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs2851912	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs34622107	0.85[EUR][1000 genomes]
rs3923383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4289062	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4343347	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4386188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs4401106	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7238163	1.00[CEU][hapmap]
rs7240023	1.00[CHB][hapmap];0.93[MEX][hapmap]
rs7240131	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72479183	0.89[EUR][1000 genomes]
rs7505778	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090318	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9945059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9950151	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9953936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs9954357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9955653	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9958424	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9962929	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9965835	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9967374	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1055343	chr18:12107012-12226356	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv960252	chr18:12161216-12220798	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8088992	RP11-64C12.3	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12154200-12183800	Weak transcription	Pancreas	Pancrea
2	chr18:12161600-12163400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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