Variant report

Variant	rs12212517
Chromosome Location	chr6:49002092-49002093
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	chr6:48993257..48996321-chr6:48996970..49002348,7	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10447401	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10447402	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10948473	0.82[AMR][1000 genomes]
rs10948474	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10948478	0.80[AMR][1000 genomes]
rs10948479	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12164014	0.86[AMR][1000 genomes]
rs12193009	0.86[AMR][1000 genomes]
rs12194577	0.83[AMR][1000 genomes]
rs34840811	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35880220	0.81[AMR][1000 genomes]
rs4129112	0.85[AMR][1000 genomes]
rs4129113	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4145251	0.84[AMR][1000 genomes]
rs4145253	0.85[AMR][1000 genomes]
rs4314496	0.86[AMR][1000 genomes]
rs4326233	0.86[AMR][1000 genomes]
rs4327693	0.86[AMR][1000 genomes]
rs4352681	0.86[AMR][1000 genomes]
rs4382258	0.84[AMR][1000 genomes]
rs4383815	0.85[AMR][1000 genomes]
rs4397213	0.86[AMR][1000 genomes]
rs4403253	0.85[AMR][1000 genomes]
rs4410717	0.86[AMR][1000 genomes]
rs4440458	0.86[AMR][1000 genomes]
rs4489146	0.86[AMR][1000 genomes]
rs4506042	0.86[AMR][1000 genomes]
rs4512222	0.86[AMR][1000 genomes]
rs4527706	0.85[AMR][1000 genomes]
rs4537140	0.86[AMR][1000 genomes]
rs4554314	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4569963	0.86[AMR][1000 genomes]
rs4571562	0.86[AMR][1000 genomes]
rs4580868	0.86[AMR][1000 genomes]
rs4601115	0.86[AMR][1000 genomes]
rs4616992	0.85[AMR][1000 genomes]
rs6458643	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6458644	0.86[AMR][1000 genomes]
rs6458645	0.86[AMR][1000 genomes]
rs6458646	0.86[AMR][1000 genomes]
rs6458647	0.86[AMR][1000 genomes]
rs6458650	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6458651	0.85[AMR][1000 genomes]
rs6458655	0.86[AMR][1000 genomes]
rs6458656	0.86[AMR][1000 genomes]
rs6458657	0.86[AMR][1000 genomes]
rs6902329	0.82[AMR][1000 genomes]
rs6902574	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6917596	0.84[AMR][1000 genomes]
rs6929991	0.84[AMR][1000 genomes]
rs6930005	0.84[AMR][1000 genomes]
rs6931955	0.86[AMR][1000 genomes]
rs7453585	0.83[AMR][1000 genomes]
rs7749289	0.86[AMR][1000 genomes]
rs7753993	0.86[AMR][1000 genomes]
rs7754368	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7755153	0.86[AMR][1000 genomes]
rs7757406	0.83[AMR][1000 genomes]
rs7767717	0.86[AMR][1000 genomes]
rs7772150	0.86[AMR][1000 genomes]
rs7772533	0.86[AMR][1000 genomes]
rs7774894	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9349467	0.86[AMR][1000 genomes]
rs9357598	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9367343	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9369842	0.86[AMR][1000 genomes]
rs9369845	0.86[AMR][1000 genomes]
rs9369847	0.86[AMR][1000 genomes]
rs9369848	0.86[AMR][1000 genomes]
rs9369851	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9369854	0.84[AMR][1000 genomes]
rs9381721	0.86[AMR][1000 genomes]
rs9381724	0.86[AMR][1000 genomes]
rs9381727	0.83[AMR][1000 genomes]
rs9395448	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9688726	0.86[AMR][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	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv603049	chr6:48931959-49169337	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885880	chr6:48975662-49102186	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12212517	CENPQ	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48994400-49020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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