Variant report

Variant	rs7364910
Chromosome Location	chr1:94322546-94322547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10489602	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10489604	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782966	0.88[EUR][1000 genomes]
rs10782967	0.88[EUR][1000 genomes]
rs11165020	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165024	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027630	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12122113	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12134359	0.87[EUR][1000 genomes]
rs12137687	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140446	0.86[EUR][1000 genomes]
rs12143274	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143279	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12563731	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565614	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12565817	0.81[EUR][1000 genomes]
rs12566531	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734571	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739186	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12745990	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12752298	0.84[EUR][1000 genomes]
rs1884018	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2143990	0.89[EUR][1000 genomes]
rs2235971	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391322	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2747039	0.88[EUR][1000 genomes]
rs2747041	0.88[EUR][1000 genomes]
rs2747043	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747045	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747050	0.88[EUR][1000 genomes]
rs2818160	0.88[EUR][1000 genomes]
rs2818162	0.88[EUR][1000 genomes]
rs2818164	0.89[EUR][1000 genomes]
rs2818169	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3000471	0.89[EUR][1000 genomes]
rs3747965	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4075523	0.88[EUR][1000 genomes]
rs4141736	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141737	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240955	0.88[EUR][1000 genomes]
rs4240956	0.88[EUR][1000 genomes]
rs4314890	0.88[EUR][1000 genomes]
rs4847253	0.84[EUR][1000 genomes]
rs4847265	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664719	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6685747	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8179391	0.88[EUR][1000 genomes]
rs871854	0.84[EUR][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	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	esv3438453	chr1:94322264-94324762	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7364910	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7364910	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs7364910	RP11-488P3.1	cis	Nerve Tibial	GTEx
rs7364910	RP11-488P3.1	cis	Stomach	GTEx
rs7364910	RP11-488P3.1	cis	Artery Tibial	GTEx
rs7364910	RP11-488P3.1	cis	Thyroid	GTEx
rs7364910	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs7364910	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs7364910	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs7364910	RP11-488P3.1	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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