Variant report

Variant	rs8001243
Chromosome Location	chr13:48688902-48688903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11616639	0.89[ASN][1000 genomes]
rs1410117	0.94[ASN][1000 genomes]
rs1571256	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1927213	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2094192	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2104480	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148246	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2148938	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2406709	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2406797	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4294712	0.92[ASN][1000 genomes]
rs4941623	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4942748	0.97[ASN][1000 genomes]
rs56399021	0.89[ASN][1000 genomes]
rs7324484	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7326363	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7333247	0.85[ASN][1000 genomes]
rs7336214	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526442	0.92[ASN][1000 genomes]
rs9526443	0.92[ASN][1000 genomes]
rs9526445	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9526446	0.85[AMR][1000 genomes]
rs9526447	0.94[ASN][1000 genomes]
rs9526449	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9526451	0.93[ASN][1000 genomes]
rs9534931	0.81[ASN][1000 genomes]
rs9534932	0.86[ASN][1000 genomes]
rs9534933	0.89[ASN][1000 genomes]
rs9534937	0.89[ASN][1000 genomes]
rs9534939	0.89[ASN][1000 genomes]
rs9534943	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9534944	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9534945	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9534946	0.90[ASN][1000 genomes]
rs9534947	0.90[ASN][1000 genomes]
rs9534948	0.90[ASN][1000 genomes]
rs9534949	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9534950	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9534951	0.90[ASN][1000 genomes]
rs9534952	0.92[ASN][1000 genomes]
rs9534957	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9534961	0.85[ASN][1000 genomes]
rs9534965	0.80[ASN][1000 genomes]
rs9562802	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9567987	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567991	0.96[ASN][1000 genomes]
rs9567994	0.97[ASN][1000 genomes]
rs9568000	0.89[ASN][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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8001243	MED4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48685000-48689000	Enhancers	Adipose Nuclei	Adipose
2	chr13:48685000-48689200	Enhancers	HepG2	liver
3	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:48687200-48694800	Weak transcription	Right Atrium	heart
5	chr13:48687800-48689000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:48688600-48692000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr13:48688800-48691000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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