Variant report

Variant	rs10185452
Chromosome Location	chr2:86241607-86241608
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	chr2:86227807..86229903-chr2:86239930..86241641,2	K562	blood:
2	chr2:86240930..86243180-chr2:86244397..86245985,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10178120	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12714162	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12714166	0.84[AMR][1000 genomes]
rs12994838	0.83[EUR][1000 genomes]
rs12997506	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004643	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13024123	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2278536	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289239	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34478066	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34723687	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770075	0.82[EUR][1000 genomes]
rs4597526	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4832019	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4832234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832236	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6735014	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6740044	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572386	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10185452	IMMT	cis	Artery Aorta	GTEx
rs10185452	LOC90784	Cis_1M	lymphoblastoid	RTeQTL
rs10185452	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs10185452	IMMT	cis	multi-tissue	Pritchard
rs10185452	IMMT	cis	Esophagus Muscularis	GTEx
rs10185452	IMMT	cis	Whole Blood	GTEx
rs10185452	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86239600-86244000	Weak transcription	Pancreas	Pancrea
2	chr2:86239800-86242600	Weak transcription	Psoas Muscle	Psoas
3	chr2:86240200-86242400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:86240800-86242000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr2:86240800-86242200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr2:86241400-86241800	ZNF genes & repeats	A549	lung

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