Variant report

Variant	rs603623
Chromosome Location	chr15:40779113-40779114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40778908-40779117	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40771099..40773628-chr15:40777295..40779621,2	K562	blood:
2	chr15:40749495..40752457-chr15:40777737..40780228,2	MCF-7	breast:
3	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000244251	Chromatin interaction
ENSG00000140320	Chromatin interaction

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

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

rs_ID	r²[population]
rs11070275	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070277	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11632061	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632370	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638742	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11639464	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12594548	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595610	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12916042	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1806961	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1811513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813898	0.85[EUR][1000 genomes]
rs1869301	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1869302	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1993212	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2034651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2034652	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2167795	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412531	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412532	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412534	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2444302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924386	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2924387	0.80[EUR][1000 genomes]
rs2924388	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2959536	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2959545	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4923875	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4923876	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4924472	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924478	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4924479	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924480	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924481	0.85[EUR][1000 genomes]
rs588686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590046	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616937	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618399	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619711	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs620198	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6492951	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs654317	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6582	0.85[EUR][1000 genomes]
rs7169621	0.80[EUR][1000 genomes]
rs7178756	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7183273	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7494968	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8026605	0.80[EUR][1000 genomes]
rs8029384	0.85[EUR][1000 genomes]
rs8034326	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8038407	0.81[EUR][1000 genomes]
rs896795	0.85[EUR][1000 genomes]
rs9652415	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976401	0.85[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
rs603623	C15orf57	cis	Artery Tibial	GTEx
rs603623	C15orf57	cis	Artery Aorta	GTEx
rs603623	C15orf57	cis	Heart Left Ventricle	GTEx
rs603623	C15orf57	cis	Adipose Subcutaneous	GTEx
rs603623	C15orf57	cis	Muscle Skeletal	GTEx
rs603623	CCDC32	cis	multi-tissue	Pritchard
rs603623	C15orf57	cis	Nerve Tibial	GTEx
rs603623	C15orf57	cis	Esophagus Muscularis	GTEx
rs603623	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs603623	RP11-111A22.1	cis	lung	GTEx
rs603623	RP11-111A22.1	cis	Artery Tibial	GTEx
rs603623	C15orf57	cis	lung	GTEx
rs603623	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs603623	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs603623	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40778200-40779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40779000-40779600	Enhancers	Placenta	Placenta

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