Variant report

Variant	rs12228998
Chromosome Location	chr12:67495677-67495678
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	chr12:67492809..67494685-chr12:67494838..67497752,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10459266	0.84[ASN][1000 genomes]
rs10784605	0.98[ASN][1000 genomes]
rs10784606	0.98[ASN][1000 genomes]
rs10784607	0.98[ASN][1000 genomes]
rs10784608	0.98[ASN][1000 genomes]
rs10784609	0.98[ASN][1000 genomes]
rs10878553	0.84[ASN][1000 genomes]
rs10878559	0.98[ASN][1000 genomes]
rs10878560	0.98[ASN][1000 genomes]
rs10878561	0.98[ASN][1000 genomes]
rs10878566	0.98[ASN][1000 genomes]
rs11176552	0.84[ASN][1000 genomes]
rs11176555	0.84[ASN][1000 genomes]
rs11176556	0.83[ASN][1000 genomes]
rs11176557	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11176562	0.95[ASN][1000 genomes]
rs11176567	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11176577	0.90[ASN][1000 genomes]
rs11176580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11176586	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176589	1.00[EUR][1000 genomes]
rs11176627	0.87[EUR][1000 genomes]
rs11829047	0.98[ASN][1000 genomes]
rs12227624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227692	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228922	0.88[ASN][1000 genomes]
rs12230670	0.98[ASN][1000 genomes]
rs12231102	0.98[ASN][1000 genomes]
rs12833688	0.98[ASN][1000 genomes]
rs1465026	0.98[ASN][1000 genomes]
rs1526835	0.95[ASN][1000 genomes]
rs1526839	0.98[ASN][1000 genomes]
rs1589971	0.83[ASN][1000 genomes]
rs2870926	0.84[ASN][1000 genomes]
rs2904534	0.95[ASN][1000 genomes]
rs4244070	0.95[ASN][1000 genomes]
rs4913529	0.95[ASN][1000 genomes]
rs6581735	0.95[ASN][1000 genomes]
rs6581740	1.00[ASN][1000 genomes]
rs7136952	0.84[ASN][1000 genomes]
rs7138249	0.84[ASN][1000 genomes]
rs7298268	0.95[ASN][1000 genomes]
rs7311137	1.00[ASN][1000 genomes]
rs7953961	0.80[ASN][1000 genomes]
rs7959866	0.84[ASN][1000 genomes]
rs7961562	0.93[ASN][1000 genomes]
rs7961790	1.00[ASN][1000 genomes]
rs7961954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962241	1.00[ASN][1000 genomes]
rs7974866	0.98[ASN][1000 genomes]
rs7980101	1.00[ASN][1000 genomes]
rs941096	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:67491800-67501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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