Variant report

Variant	rs530188
Chromosome Location	chr15:43545314-43545315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43528880..43530995-chr15:43543131..43545896,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1095389	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1133395	0.81[AMR][1000 genomes]
rs11853991	0.93[EUR][1000 genomes]
rs12102205	0.83[AMR][1000 genomes]
rs12148735	0.86[AMR][1000 genomes]
rs1814323	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278856	0.84[AMR][1000 genomes]
rs2278857	0.82[AMR][1000 genomes]
rs2412781	0.83[AMR][1000 genomes]
rs35278581	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809482	0.83[AMR][1000 genomes]
rs4547312	0.83[AMR][1000 genomes]
rs471122	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473016	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473554	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475227	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs475261	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs478028	0.84[AMR][1000 genomes]
rs485148	0.84[AMR][1000 genomes]
rs491800	0.83[AMR][1000 genomes]
rs491804	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs492743	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493444	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs498227	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs504417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs505249	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507178	0.85[AMR][1000 genomes]
rs510108	0.86[AMR][1000 genomes]
rs512431	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512628	0.85[AMR][1000 genomes]
rs513970	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs518234	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518261	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523737	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs524547	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs526292	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs530683	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs531910	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546722	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552701	0.83[AMR][1000 genomes]
rs554001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs555001	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556851	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs560134	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564946	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs565658	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs572959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs573169	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs573615	0.84[AMR][1000 genomes]
rs574065	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576557	0.86[AMR][1000 genomes]
rs579651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493083	0.81[AMR][1000 genomes]
rs7166812	0.81[AMR][1000 genomes]
rs825733	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs825734	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9920879	0.81[AMR][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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs530188	TGM5	cis	multi-tissue	Pritchard
rs530188	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs530188	ADAL	cis	lung	GTEx
rs530188	ADAL	cis	Adipose Subcutaneous	GTEx
rs530188	ADAL	cis	Nerve Tibial	GTEx
rs530188	AC011330.5	cis	Artery Tibial	GTEx
rs530188	ADAL	cis	Artery Tibial	GTEx
rs530188	TGM5	Cis_1M	lymphoblastoid	RTeQTL
rs530188	TGM7	cis	Esophagus Mucosa	GTEx
rs530188	ZSCAN29	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43538000-43546600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr15:43542200-43546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:43542600-43545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:43542800-43545800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:43544000-43545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:43544200-43545600	Weak transcription	Esophagus	oesophagus
7	chr15:43544800-43546200	Flanking Active TSS	GM12878-XiMat	blood
8	chr15:43545000-43546400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:43545000-43546600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:43545000-43546600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:43545200-43546600	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:43545200-43546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:43545200-43547000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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