Variant report

Variant	rs1927213
Chromosome Location	chr13:48695761-48695762
allele	C/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	0.88[ASN][1000 genomes]
rs1326138	0.81[CEU][hapmap]
rs1410117	0.95[ASN][1000 genomes]
rs1571256	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094192	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2104480	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2148246	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2148938	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406709	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406797	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4294712	0.93[ASN][1000 genomes]
rs4941623	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942748	0.99[ASN][1000 genomes]
rs56399021	0.90[ASN][1000 genomes]
rs7324484	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7326363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7333247	0.85[ASN][1000 genomes]
rs7336214	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8001243	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9526442	0.93[ASN][1000 genomes]
rs9526443	0.93[ASN][1000 genomes]
rs9526445	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526447	0.95[ASN][1000 genomes]
rs9526449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526451	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534931	0.83[ASN][1000 genomes]
rs9534932	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534933	0.90[ASN][1000 genomes]
rs9534937	0.90[ASN][1000 genomes]
rs9534939	0.90[ASN][1000 genomes]
rs9534943	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534944	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534945	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534946	0.92[ASN][1000 genomes]
rs9534947	0.92[ASN][1000 genomes]
rs9534948	0.92[ASN][1000 genomes]
rs9534949	0.87[ASN][1000 genomes]
rs9534950	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9534951	0.91[ASN][1000 genomes]
rs9534952	0.93[ASN][1000 genomes]
rs9534957	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534961	0.86[ASN][1000 genomes]
rs9534965	0.81[ASN][1000 genomes]
rs9562802	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9567987	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9567991	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];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
rs1927213	MED4	cis	normal skin	skin_eQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48691200-48698400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:48692200-48697800	Weak transcription	HepG2	liver
4	chr13:48693000-48695800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:48694800-48696200	Enhancers	Duodenum Mucosa	Duodenum
6	chr13:48695000-48695800	Weak transcription	Right Atrium	heart
7	chr13:48695000-48696200	Enhancers	Fetal Kidney	kidney
8	chr13:48695200-48695800	Enhancers	Fetal Intestine Small	intestine
9	chr13:48695200-48696400	Enhancers	Fetal Heart	heart
10	chr13:48695400-48695800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr13:48695400-48696400	Enhancers	Small Intestine	intestine
12	chr13:48695400-48696600	Enhancers	Colon Smooth Muscle	Colon
13	chr13:48695600-48695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:48695600-48696400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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