Variant report

Variant	rs11514051
Chromosome Location	chr12:76011790-76011791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10748282	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10748283	0.80[EUR][1000 genomes]
rs10785198	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10879929	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10879932	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10879933	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10879934	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10879935	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10879936	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879937	0.80[EUR][1000 genomes]
rs11180562	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11180575	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180584	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11180598	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180603	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11519910	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11520226	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811250	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17115238	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054518	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2366988	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2366989	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2886826	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34406885	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847671	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3898937	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4323912	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4882631	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4882635	0.94[ASN][1000 genomes]
rs58886425	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60465677	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582293	0.91[EUR][1000 genomes]
rs7137610	0.90[EUR][1000 genomes]
rs7300994	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7305673	0.90[EUR][1000 genomes]
rs7314159	0.90[ASN][1000 genomes]
rs7314220	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7315474	0.81[ASN][1000 genomes]
rs7955264	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7956673	0.91[EUR][1000 genomes]
rs7956953	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958508	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7962144	0.89[EUR][1000 genomes]
rs7962276	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7979460	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980713	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9634253	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11514051	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL
rs11514051	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs11514051	GLIPR1L2	cis	lung	GTEx
rs11514051	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs11514051	GLIPR1L2	cis	Thyroid	GTEx
rs11514051	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs11514051	GLIPR1L2	cis	Nerve Tibial	GTEx
rs11514051	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs11514051	GLIPR1L2	cis	Artery Tibial	GTEx
rs11514051	RP11-585P4.5	cis	Artery Tibial	GTEx
rs11514051	GLIPR1L2	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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