Variant report

Variant	rs11164916
Chromosome Location	chr1:93853015-93853016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1000607	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10782957	0.84[EUR][1000 genomes]
rs10874772	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874773	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874777	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874778	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1088318	0.85[EUR][1000 genomes]
rs11164902	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11576494	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044883	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12124771	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12133576	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12133907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12138486	0.87[ASN][1000 genomes]
rs12139633	0.86[EUR][1000 genomes]
rs12406245	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12752223	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1365297	0.81[ASN][1000 genomes]
rs1426318	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1535699	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1535701	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1559828	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1593512	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2031225	0.82[ASN][1000 genomes]
rs2031226	0.82[ASN][1000 genomes]
rs2114273	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296558	0.85[EUR][1000 genomes]
rs2391254	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2391256	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3767962	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767964	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4000699	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4240966	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4847240	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847408	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847410	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847412	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847419	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847420	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547866	0.85[EUR][1000 genomes]
rs565919	0.82[EUR][1000 genomes]
rs569414	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59417472	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622608	0.84[EUR][1000 genomes]
rs6658257	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6680022	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6680107	0.80[ASN][1000 genomes]
rs6694508	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6703310	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7417952	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7418101	0.86[EUR][1000 genomes]
rs7524964	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525248	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7537403	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7540025	0.80[EUR][1000 genomes]
rs7541304	0.80[EUR][1000 genomes]
rs7547244	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7551485	0.80[EUR][1000 genomes]
rs797668	0.82[EUR][1000 genomes]
rs812214	0.81[ASN][1000 genomes]
rs942196	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9432453	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9432459	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9432465	0.80[ASN][1000 genomes]
rs9432681	0.80[EUR][1000 genomes];0.80[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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11164916	RP4-717I23.3	cis	Artery Tibial	GTEx
rs11164916	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11164916	RP4-717I23.3	cis	Esophagus Muscularis	GTEx
rs11164916	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs11164916	DR1	Cis_1M	lymphoblastoid	RTeQTL
rs11164916	RP4-717I23.3	cis	Muscle Skeletal	GTEx
rs11164916	RP4-717I23.3	cis	Thyroid	GTEx
rs11164916	DR1	cis	Adipose Subcutaneous	GTEx
rs11164916	TMED5	Cis_1M	lymphoblastoid	RTeQTL
rs11164916	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs11164916	RP4-717I23.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93852000-93853200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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