Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10874778	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874786	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10874790	0.88[ASN][1000 genomes]
rs11164936	0.83[ASN][1000 genomes]
rs11164938	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11164943	0.82[ASN][1000 genomes]
rs12042552	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12123339	0.84[ASN][1000 genomes]
rs12124771	0.81[AFR][1000 genomes]
rs12135266	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12138486	0.81[ASN][1000 genomes]
rs12742850	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1812668	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2391256	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2391271	0.88[ASN][1000 genomes]
rs35102250	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847245	0.87[ASN][1000 genomes]
rs4847428	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4847429	0.87[ASN][1000 genomes]
rs7546702	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7551016	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8179368	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3375834	chr1:93872980-93904647	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11164924	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs11164924	RP4-717I23.3	cis	Artery Tibial	GTEx
rs11164924	RP4-717I23.3	cis	lung	GTEx
rs11164924	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11164924	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs11164924	DR1	Cis_1M	lymphoblastoid	RTeQTL
rs11164924	TMED5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93889600-93892000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:93891800-93892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93891800-93892800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr1:93891800-93893600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:93891800-93893600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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