Variant report

Variant	rs11992528
Chromosome Location	chr8:66473879-66473880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10106749	0.88[CEU][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap]
rs10957358	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10957359	0.92[EUR][1000 genomes]
rs11786598	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13251307	0.92[CEU][hapmap]
rs13271817	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13274205	0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs13275168	0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs13280521	0.89[CEU][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap]
rs13281090	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs13281981	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13282323	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17395275	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs17396080	0.89[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs28547533	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28709439	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4394432	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4424306	0.96[CEU][hapmap]
rs6472208	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6472209	0.85[AFR][1000 genomes]
rs6472219	0.96[CEU][hapmap]
rs6991838	0.86[EUR][1000 genomes]
rs6994889	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7007987	0.89[CEU][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap]
rs7462352	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7818909	0.89[CEU][hapmap]
rs7822707	0.89[CEU][hapmap]
rs7829434	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs869151	0.89[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap]
rs9650151	1.00[CHD][hapmap];0.81[TSI][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11992528	MTFR1	cis	multi-tissue	Pritchard
rs11992528	CTD-3025N20.3	cis	Thyroid	GTEx
rs11992528	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs11992528	CTD-3025N20.3	cis	lung	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472400-66474400	Enhancers	Fetal Brain Male	brain
2	chr8:66472800-66475000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:66473200-66474000	Enhancers	Brain Angular Gyrus	brain
4	chr8:66473200-66474000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:66473200-66474200	Enhancers	Fetal Brain Female	brain
6	chr8:66473200-66474600	Weak transcription	Brain Substantia Nigra	brain
7	chr8:66473400-66474400	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:66473800-66474200	Flanking Active TSS	Brain Hippocampus Middle	brain

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