Variant report

Variant	rs9971722
Chromosome Location	chr12:58308383-58308384
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58306776..58308990-chr12:58327351..58329444,2	K562	blood:
2	chr12:58301756..58303544-chr12:58307967..58310549,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10122	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431506	0.82[CEU][hapmap]
rs10747788	0.86[CEU][hapmap]
rs10783859	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877036	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877037	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877040	0.86[CEU][hapmap]
rs11172372	0.81[JPT][hapmap]
rs11172387	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12308413	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2888288	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237845	0.80[JPT][hapmap]
rs4272820	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4335583	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373979	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4509811	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534624	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4583019	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760174	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760343	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760346	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760347	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581159	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133278	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136981	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295748	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298370	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299249	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954957	0.80[JPT][hapmap]
rs7975227	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978588	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs9971722	XRCC6BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9971722	XRCC6BP1	Cis_1M	lymphoblastoid	RTeQTL
rs9971722	XRCC6BP1	cis	Heart Left Ventricle	GTEx
rs9971722	XRCC6BP1	cis	lung	GTEx
rs9971722	XRCC6BP1	cis	Adipose Subcutaneous	GTEx
rs9971722	XRCC6BP1	cis	Nerve Tibial	GTEx
rs9971722	XRCC6BP1	cis	Thyroid	GTEx
rs9971722	XRCC6BP1	cis	normal skin	skin_eQTL
rs9971722	XRCC6BP1	cis	lesional skin	skin_eQTL
rs9971722	XRCC6BP1	cis	Artery Tibial	GTEx
rs9971722	XRCC6BP1	cis	Esophagus Mucosa	GTEx
rs9971722	XRCC6BP1	cis	uninvolved skin	skin_eQTL
rs9971722	XRCC6BP1	cis	Whole Blood	GTEx
rs9971722	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs9971722	XRCC6BP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58303400-58308400	Weak transcription	Fetal Thymus	thymus
2	chr12:58307800-58309600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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