Variant report

Variant	rs7975418
Chromosome Location	chr12:4213488-4213489
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	chr12:4211212..4213696-chr12:4362368..4364993,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10848976	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10848978	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10848979	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848983	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10848984	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11062989	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11062992	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11062999	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11063000	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11063003	0.83[AMR][1000 genomes]
rs11063004	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11063007	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11063008	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11063009	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12228949	0.87[AMR][1000 genomes]
rs12229320	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12230013	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12231207	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579541	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579556	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579813	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2072497	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2110592	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2160160	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2160161	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358594	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358836	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358837	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2540139	0.96[EUR][1000 genomes]
rs3889565	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4765762	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4765767	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4765769	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766207	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766208	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4766209	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766211	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58334161	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59759498	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60789908	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61269540	0.82[AMR][1000 genomes]
rs6489518	0.85[EUR][1000 genomes]
rs7136346	0.85[EUR][1000 genomes]
rs741243	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs741244	0.82[AMR][1000 genomes]
rs741245	0.83[AMR][1000 genomes]
rs759306	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9634153	0.91[AMR][1000 genomes];0.85[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv976559	chr12:4206772-4216198	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4211800-4215600	Weak transcription	Fetal Stomach	stomach

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