Variant report

Variant	rs6684428
Chromosome Location	chr1:56359813-56359814
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10789010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888947	0.94[EUR][1000 genomes]
rs10888948	0.91[EUR][1000 genomes]
rs11206680	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11206681	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11579959	0.86[ASN][1000 genomes]
rs12021672	0.96[ASN][1000 genomes]
rs12022490	0.96[ASN][1000 genomes]
rs12042939	0.93[ASN][1000 genomes]
rs12070494	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12123418	0.89[EUR][1000 genomes]
rs12124871	0.96[EUR][1000 genomes]
rs12141873	0.94[EUR][1000 genomes]
rs12145137	0.90[EUR][1000 genomes]
rs12403234	0.96[ASN][1000 genomes]
rs12407474	0.89[ASN][1000 genomes]
rs12563455	0.93[ASN][1000 genomes]
rs17113073	0.94[EUR][1000 genomes]
rs4130692	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4244652	0.93[ASN][1000 genomes]
rs4244653	0.93[ASN][1000 genomes]
rs4271254	0.86[ASN][1000 genomes]
rs4330956	0.93[ASN][1000 genomes]
rs4353139	0.93[ASN][1000 genomes]
rs4367815	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4378251	0.86[ASN][1000 genomes]
rs4384274	0.86[ASN][1000 genomes]
rs4394699	0.86[ASN][1000 genomes]
rs4474303	0.86[ASN][1000 genomes]
rs4559553	0.93[ASN][1000 genomes]
rs4576690	0.86[ASN][1000 genomes]
rs4593870	0.86[ASN][1000 genomes]
rs4625325	0.86[ASN][1000 genomes]
rs4633318	0.86[ASN][1000 genomes]
rs4926702	0.96[ASN][1000 genomes]
rs4927278	0.93[ASN][1000 genomes]
rs4927283	0.86[ASN][1000 genomes]
rs4927284	0.86[ASN][1000 genomes]
rs55693755	0.94[EUR][1000 genomes]
rs58538058	0.96[EUR][1000 genomes]
rs59959484	0.94[EUR][1000 genomes]
rs61774842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774843	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6588580	0.93[ASN][1000 genomes]
rs6588589	0.86[ASN][1000 genomes]
rs6684334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6687146	0.93[ASN][1000 genomes]
rs6693526	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72904468	0.86[AMR][1000 genomes]
rs7516605	0.94[EUR][1000 genomes]
rs7517995	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7540772	0.94[EUR][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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv1818340	chr1:56359741-56408597	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Airflow obstruction	22837378	GWAS catalog

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56359400-56361600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56359800-56360000	Enhancers	A549	lung
3	chr1:56359800-56360800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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