Variant report

Variant	rs1993212
Chromosome Location	chr15:40792856-40792857
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40789702..40793899-chr15:40802454..40805435,6	K562	blood:
2	chr15:40790726..40793810-chr15:40802454..40804415,3	K562	blood:
3	chr15:40789021..40791161-chr15:40792541..40794393,2	K562	blood:
4	chr15:40788119..40791373-chr15:40792541..40795559,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11070275	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070277	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11632370	0.81[AMR][1000 genomes]
rs11638742	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11639464	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594548	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12595610	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12916042	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1806961	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1811513	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1813898	0.84[AMR][1000 genomes]
rs1869301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1869302	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2034651	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2034652	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2167795	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412531	0.81[AMR][1000 genomes]
rs2412532	0.81[AMR][1000 genomes]
rs2412534	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2444302	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2924386	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2924388	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2959536	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2959545	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4923875	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4923876	0.81[AMR][1000 genomes]
rs4924472	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924478	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4924479	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924480	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs588686	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs590046	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603623	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616937	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618399	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619711	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs620198	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492951	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs654317	0.86[EUR][1000 genomes]
rs6582	0.82[AMR][1000 genomes]
rs7178756	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7183273	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7494968	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8029384	0.83[AMR][1000 genomes]
rs9652415	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976401	0.85[AMR][1000 genomes];0.86[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:19)

SNP	Gene	Cis/trans	Tissue	Source
rs1993212	C15orf57	cis	Esophagus Muscularis	GTEx
rs1993212	C15orf57	cis	Nerve Tibial	GTEx
rs1993212	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs1993212	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs1993212	C15orf57	cis	lung	GTEx
rs1993212	RP11-111A22.1	cis	Artery Tibial	GTEx
rs1993212	C15orf57	cis	Artery Tibial	GTEx
rs1993212	C15orf57	cis	Muscle Skeletal	GTEx
rs1993212	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs1993212	C15orf57	cis	Artery Aorta	GTEx
rs1993212	CCDC32	cis	multi-tissue	Pritchard
rs1993212	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs1993212	C15orf57	cis	Esophagus Mucosa	GTEx
rs1993212	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs1993212	C15orf57	cis	Adipose Subcutaneous	GTEx
rs1993212	RP11-111A22.1	cis	Artery Aorta	GTEx
rs1993212	C15orf57	cis	Heart Left Ventricle	GTEx
rs1993212	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs1993212	RP11-111A22.1	cis	lung	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40786600-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40791400-40793000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:40791400-40793200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:40791400-40794000	Enhancers	Hela-S3	cervix
5	chr15:40791600-40793800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40792000-40793600	Enhancers	NHLF	lung
7	chr15:40792000-40794000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr15:40792200-40793800	Enhancers	HMEC	breast
9	chr15:40792200-40794000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40792200-40794000	Enhancers	NHEK	skin
11	chr15:40792200-40794000	Enhancers	Osteobl	bone
12	chr15:40792400-40794000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:40792400-40794000	Enhancers	NH-A	brain
14	chr15:40792600-40793600	Enhancers	HUVEC	blood vessel
15	chr15:40792600-40794000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40792800-40793000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:40792800-40793200	Weak transcription	K562	blood

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