Variant report

Variant	rs73191008
Chromosome Location	chr12:75770752-75770753
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10506668	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10785187	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785189	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785190	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10879900	0.84[AMR][1000 genomes]
rs10879905	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879906	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10879907	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10879913	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879916	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879918	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879919	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879922	0.82[EUR][1000 genomes]
rs10879923	0.82[EUR][1000 genomes]
rs11180456	0.81[AMR][1000 genomes]
rs11180473	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11180475	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11180483	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180484	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180488	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180489	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180492	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180495	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180496	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180497	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180498	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180508	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180509	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180510	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180511	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180512	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180513	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180514	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180524	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180526	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180527	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11180528	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180533	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180535	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180536	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180537	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180538	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11180540	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11180546	0.82[EUR][1000 genomes]
rs11180547	0.82[EUR][1000 genomes]
rs11180548	0.82[EUR][1000 genomes]
rs11520223	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11829208	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11829233	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11831340	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11833819	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12099961	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12366348	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12367329	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12368429	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12369556	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371293	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12372516	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12422952	0.82[EUR][1000 genomes]
rs12579161	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12581937	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12582825	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1543946	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17114962	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17114964	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115087	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17115098	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1875470	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875471	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1909968	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909969	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909970	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909971	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909972	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909973	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909979	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2102135	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2134141	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2202104	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292009	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2292010	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3759089	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759090	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3858535	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3923914	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4019363	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4019366	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4019368	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4019400	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4255573	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4394867	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4409878	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4415811	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4533075	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565939	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565940	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4583012	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587767	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4623941	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4882618	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882619	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882620	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882624	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4882625	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4882628	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882629	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882689	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56829278	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57613088	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58018505	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59282813	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6582289	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67705855	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67904412	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133490	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134260	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135164	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135208	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7135440	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7135971	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7136080	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136556	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7137981	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296131	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7298541	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7299877	0.82[EUR][1000 genomes]
rs7300071	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7300296	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7300345	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305433	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7306050	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7307352	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311260	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311359	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7315091	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73354209	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73364090	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73364096	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73365996	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7486473	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7488050	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7954633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7957713	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7958067	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963723	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963834	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963977	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7964070	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7964900	0.80[EUR][1000 genomes]
rs7965228	0.80[EUR][1000 genomes]
rs7966341	0.84[EUR][1000 genomes]
rs7966763	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7967014	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7967699	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7967731	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969930	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7970458	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7972809	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7973632	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7974011	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975447	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7978856	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668552	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs73191008	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs73191008	RP11-585P4.5	cis	Artery Tibial	GTEx
rs73191008	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs73191008	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs73191008	RP11-585P4.5	cis	Thyroid	GTEx
rs73191008	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs73191008	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs73191008	GLIPR1L2	cis	Artery Aorta	GTEx
rs73191008	GLIPR1L2	cis	lung	GTEx
rs73191008	GLIPR1L2	cis	Nerve Tibial	GTEx
rs73191008	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs73191008	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs73191008	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs73191008	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs73191008	GLIPR1L2	cis	Stomach	GTEx
rs73191008	GLIPR1L2	cis	Artery Tibial	GTEx
rs73191008	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs73191008	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73191008	GLIPR1L2	cis	Thyroid	GTEx
rs73191008	RP11-585P4.5	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 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	chr12:75757200-75783400	Weak transcription	Ovary	ovary
5	chr12:75758200-75782600	Weak transcription	Aorta	Aorta
6	chr12:75763400-75784400	Weak transcription	Left Ventricle	heart
7	chr12:75767400-75772000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:75768600-75772200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:75770200-75770800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:75770600-75770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:75770600-75771000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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