Variant report

Variant	rs73364090
Chromosome Location	chr12:75755020-75755021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10785187	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10879900	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10879905	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10879906	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10879907	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11180456	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180458	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180460	0.85[AMR][1000 genomes]
rs11180465	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180475	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180483	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11180484	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11180488	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11180489	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11180492	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11520223	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610111	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11610112	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11837697	0.83[AMR][1000 genomes]
rs12366348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12367329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368429	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12369556	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12369854	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12371293	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12372516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581394	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087687	0.80[AMR][1000 genomes]
rs3923914	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4583012	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4623941	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882616	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4882618	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4882619	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4882620	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4882687	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60971359	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67904412	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7135440	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136911	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73191008	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73364096	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73365996	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7954879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967619	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970188	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970458	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7975661	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978856	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1054059	chr12:75654631-75776721	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs73364090	GLIPR1L2	cis	Nerve Tibial	GTEx
rs73364090	RP11-585P4.5	cis	Artery Tibial	GTEx
rs73364090	RP11-585P4.5	cis	Thyroid	GTEx
rs73364090	GLIPR1L2	cis	lung	GTEx
rs73364090	GLIPR1L2	cis	Thyroid	GTEx
rs73364090	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs73364090	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs73364090	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs73364090	GLIPR1L2	cis	Artery Aorta	GTEx
rs73364090	GLIPR1L2	cis	Stomach	GTEx
rs73364090	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs73364090	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs73364090	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73364090	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs73364090	GLIPR1L2	cis	Artery Tibial	GTEx
rs73364090	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs73364090	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs73364090	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs73364090	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs73364090	RP11-585P4.5	cis	Muscle Skeletal	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:75754000-75784200	Weak transcription	Right Ventricle	heart
4	chr12:75754600-75760000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:75754600-75760400	Weak transcription	H9 Cell Line	embryonic stem cell

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