Variant report

Variant	rs2924386
Chromosome Location	chr15:40792139-40792140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40789702..40793899-chr15:40802454..40805435,6	K562	blood:
2	chr15:40790726..40793810-chr15:40802454..40804415,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11070275	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070277	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11638742	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11639464	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594548	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12595610	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12916042	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806961	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1811513	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869301	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1869302	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1993212	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2034651	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2034652	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2167795	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412534	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2444302	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2924388	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2959536	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2959545	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4923875	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924472	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924478	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4924479	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924480	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs588686	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590046	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs603623	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs616937	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs618399	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619711	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs620198	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492951	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs654317	0.83[EUR][1000 genomes]
rs7178756	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7183273	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7494968	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8034326	0.81[EUR][1000 genomes]
rs9652415	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976401	0.84[AMR][1000 genomes];0.88[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:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2924386	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs2924386	C15orf57	cis	Muscle Skeletal	GTEx
rs2924386	C15orf57	cis	Esophagus Muscularis	GTEx
rs2924386	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs2924386	C15orf57	cis	Adipose Subcutaneous	GTEx
rs2924386	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs2924386	RP11-111A22.1	cis	Artery Tibial	GTEx
rs2924386	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs2924386	RP11-111A22.1	cis	Artery Aorta	GTEx
rs2924386	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs2924386	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs2924386	C15orf57	cis	Artery Tibial	GTEx
rs2924386	RP11-111A22.1	cis	lung	GTEx
rs2924386	C15orf57	cis	lung	GTEx
rs2924386	C15orf57	cis	Artery Aorta	GTEx
rs2924386	C15orf57	cis	Heart Left Ventricle	GTEx
rs2924386	C15orf57	cis	Nerve Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40786200-40792400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:40786600-40792800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:40786600-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:40791400-40793000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:40791400-40793200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:40791400-40794000	Enhancers	Hela-S3	cervix
7	chr15:40791600-40793800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:40791800-40792200	Weak transcription	Osteobl	bone
9	chr15:40792000-40793600	Enhancers	NHLF	lung
10	chr15:40792000-40794000	Enhancers	Muscle Satellite Cultured Cells	--

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