Variant report

Variant	rs620198
Chromosome Location	chr15:40780486-40780487
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11070275	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11070277	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11632061	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632370	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638742	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11639464	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594548	0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595610	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12916042	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806961	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1811513	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813898	0.85[EUR][1000 genomes]
rs1869301	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1869302	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1993212	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2034651	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2034652	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167795	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412531	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412532	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412534	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2444302	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2924386	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2924387	0.80[EUR][1000 genomes]
rs2924388	0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2959536	0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2959545	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4923875	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4923876	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4924472	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924478	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4924479	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924481	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs588686	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs590046	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs603623	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs616937	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs618399	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619711	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492951	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs654317	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6582	0.85[EUR][1000 genomes]
rs7169621	0.80[EUR][1000 genomes]
rs7178756	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7183273	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7494968	0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8026605	0.80[EUR][1000 genomes]
rs8029384	0.85[EUR][1000 genomes]
rs8034326	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8038407	0.81[EUR][1000 genomes]
rs896795	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9652415	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs976401	0.87[AMR][1000 genomes];0.93[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs620198	C15orf57	cis	Artery Aorta	GTEx
rs620198	C15orf57	cis	lung	GTEx
rs620198	C15orf57	cis	Nerve Tibial	GTEx
rs620198	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs620198	C15orf57	cis	Adipose Subcutaneous	GTEx
rs620198	RP11-111A22.1	cis	lung	GTEx
rs620198	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs620198	C15orf57	cis	Artery Tibial	GTEx
rs620198	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs620198	C15orf57	cis	Muscle Skeletal	GTEx
rs620198	RP11-111A22.1	cis	Artery Tibial	GTEx
rs620198	C15orf57	cis	Heart Left Ventricle	GTEx
rs620198	CCDC32	cis	multi-tissue	Pritchard
rs620198	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs620198	C15orf57	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40780200-40780600	Active TSS	Placenta	Placenta
2	chr15:40780200-40780800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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