Variant report

Variant	rs7243239
Chromosome Location	chr18:28764320-28764321
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	chr18:28763439..28766393-chr18:28769672..28771413,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1370450	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1437605	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1437608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437609	0.98[EUR][1000 genomes]
rs1437610	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs1437611	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs1437612	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs1816632	0.98[EUR][1000 genomes]
rs1816633	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs2118341	0.98[EUR][1000 genomes]
rs2118342	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs2118343	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs2164765	0.98[EUR][1000 genomes]
rs2164766	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2254170	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2254172	0.90[EUR][1000 genomes]
rs2577067	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs2577073	0.91[EUR][1000 genomes]
rs2741000	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes]
rs2741004	0.98[EUR][1000 genomes]
rs2851996	0.92[EUR][1000 genomes]
rs4325646	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4344831	0.98[EUR][1000 genomes]
rs4361001	0.98[EUR][1000 genomes]
rs6506886	0.97[EUR][1000 genomes]
rs6506891	0.90[JPT][hapmap]
rs6506892	0.97[EUR][1000 genomes]
rs7238415	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[EUR][1000 genomes]
rs8090853	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8096368	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs951298	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs976749	0.98[EUR][1000 genomes]
rs976750	0.98[EUR][1000 genomes]
rs976751	0.98[EUR][1000 genomes]
rs991482	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9947328	0.98[EUR][1000 genomes]
rs9948366	0.96[EUR][1000 genomes]
rs9952351	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs9955032	0.92[EUR][1000 genomes]
rs9955430	0.98[EUR][1000 genomes]
rs9959845	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs9960487	0.98[AFR][1000 genomes];0.98[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	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7243239	DSC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28764000-28764400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr18:28764000-28764400	Enhancers	Fetal Intestine Small	intestine
3	chr18:28764000-28764400	Enhancers	HepG2	liver
4	chr18:28764200-28764400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links