Variant report

Variant	rs6048155
Chromosome Location	chr20:22506050-22506051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22504029..22508183-chr20:22508340..22510510,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12481297	0.84[EUR][1000 genomes]
rs2404167	0.92[EUR][1000 genomes]
rs4815115	0.84[ASN][1000 genomes]
rs4815116	0.92[EUR][1000 genomes]
rs4815117	0.92[EUR][1000 genomes]
rs6036134	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036137	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6036138	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6036140	0.82[EUR][1000 genomes]
rs6036141	0.82[EUR][1000 genomes]
rs6036142	0.82[EUR][1000 genomes]
rs6048146	1.00[ASN][1000 genomes]
rs6048147	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6048148	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048153	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048160	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048162	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048163	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048166	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6048167	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6048168	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6048169	0.91[EUR][1000 genomes]
rs6048171	0.82[EUR][1000 genomes]
rs6048172	0.82[EUR][1000 genomes]
rs6075923	0.92[EUR][1000 genomes]
rs6082725	0.94[ASN][1000 genomes]
rs6082733	0.92[EUR][1000 genomes]
rs6082734	0.96[EUR][1000 genomes]
rs6082735	0.92[EUR][1000 genomes]
rs6106520	0.82[EUR][1000 genomes]
rs73902850	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8117447	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945981	0.92[EUR][1000 genomes]

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	nsv1066578	chr20:22472671-22513844	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6048155	BCHE	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22503800-22506800	Enhancers	Pancreas	Pancrea
2	chr20:22504800-22506200	Flanking Active TSS	HepG2	liver
3	chr20:22505400-22510400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:22505600-22509800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22505600-22512200	Weak transcription	A549	lung
6	chr20:22506000-22506600	Flanking Active TSS	Liver	Liver
7	chr20:22506000-22514200	Weak transcription	Stomach Mucosa	stomach

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