Variant report

Variant	rs2188548
Chromosome Location	chr7:112235267-112235268
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	chr7:112234356..112236045-chr7:112509200..112510734,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10238492	0.82[CHB][hapmap]
rs11763053	0.83[ASN][1000 genomes]
rs11763216	0.86[ASN][1000 genomes]
rs11768435	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769472	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770458	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11770706	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11771324	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17581732	0.86[ASN][1000 genomes]
rs1922901	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285541	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs28653710	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34571206	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4478510	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62473830	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62476688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6946196	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6947690	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6973084	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726593	0.85[CHB][hapmap]
rs728461	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs765506	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7802889	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv967507	chr7:112234655-112243192	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2188548	C7orf53	cis	cerebellum	SCAN
rs2188548	TMEM168	cis	cerebellum	SCAN
rs2188548	RACGAP1P	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112233200-112235800	Active TSS	HSMMtube	muscle
2	chr7:112234600-112235800	Enhancers	Fetal Stomach	stomach
3	chr7:112234800-112235400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:112235000-112236200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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