Variant report

Variant	rs4643951
Chromosome Location	chr5:124436615-124436616
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11241785	0.93[ASN][1000 genomes]
rs11950458	0.91[ASN][1000 genomes]
rs11953289	0.89[ASN][1000 genomes]
rs11956003	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11956633	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12520910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655216	0.85[ASN][1000 genomes]
rs13157128	0.89[ASN][1000 genomes]
rs4076183	0.89[ASN][1000 genomes]
rs4076184	0.89[ASN][1000 genomes]
rs4076185	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4131047	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415071	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452554	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4554218	0.89[ASN][1000 genomes]
rs4555796	0.82[JPT][hapmap]
rs4835863	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59246326	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595575	0.91[ASN][1000 genomes]
rs6870629	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872841	0.82[JPT][hapmap]
rs72787451	0.91[ASN][1000 genomes]
rs7445665	0.98[ASN][1000 genomes]
rs7709124	0.95[ASN][1000 genomes]
rs7724511	0.95[ASN][1000 genomes]
rs875330	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875331	0.89[ASN][1000 genomes]
rs875332	0.89[ASN][1000 genomes]
rs968327	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4643951	ZNF608	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124435000-124439200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124436200-124437000	Enhancers	Adipose Nuclei	Adipose
3	chr5:124436200-124437000	Enhancers	HUVEC	blood vessel
4	chr5:124436400-124436800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:124436400-124436800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:124436400-124436800	Enhancers	HUES6 Cell Line	embryonic stem cell

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