Variant report

Variant	rs1596248
Chromosome Location	chr4:171576294-171576295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10000585	0.84[ASN][1000 genomes]
rs10008486	0.90[ASN][1000 genomes]
rs10008580	0.90[ASN][1000 genomes]
rs10011002	0.86[ASN][1000 genomes]
rs10011982	0.86[EUR][1000 genomes]
rs10012201	0.81[EUR][1000 genomes]
rs10016504	0.92[ASN][1000 genomes]
rs10018573	0.92[ASN][1000 genomes]
rs10030592	0.92[ASN][1000 genomes]
rs13119766	0.88[ASN][1000 genomes]
rs13147483	0.92[ASN][1000 genomes]
rs1442909	0.87[EUR][1000 genomes]
rs1442911	0.92[ASN][1000 genomes]
rs1596249	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055995	0.88[ASN][1000 genomes]
rs2030542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331976	0.84[EUR][1000 genomes]
rs28413006	0.92[ASN][1000 genomes]
rs28594344	0.88[ASN][1000 genomes]
rs34348601	0.92[ASN][1000 genomes]
rs34704211	0.88[ASN][1000 genomes]
rs34764144	0.92[ASN][1000 genomes]
rs34877800	0.92[ASN][1000 genomes]
rs35199694	0.92[ASN][1000 genomes]
rs35838289	0.92[ASN][1000 genomes]
rs35978308	0.92[ASN][1000 genomes]
rs4123378	0.88[ASN][1000 genomes]
rs4339170	0.92[ASN][1000 genomes]
rs4368570	0.92[ASN][1000 genomes]
rs4591556	0.88[ASN][1000 genomes]
rs4593091	0.86[EUR][1000 genomes]
rs4593092	0.92[ASN][1000 genomes]
rs4607176	0.88[ASN][1000 genomes]
rs55654575	0.84[ASN][1000 genomes]
rs57901929	0.92[ASN][1000 genomes]
rs58376252	0.86[ASN][1000 genomes]
rs59988282	0.92[ASN][1000 genomes]
rs6553537	0.92[ASN][1000 genomes]
rs6828494	0.84[EUR][1000 genomes]
rs6828514	0.84[ASN][1000 genomes]
rs6828724	0.90[ASN][1000 genomes]
rs6844817	0.84[EUR][1000 genomes]
rs6851126	0.83[ASN][1000 genomes]
rs6852477	0.86[ASN][1000 genomes]
rs6853295	0.88[ASN][1000 genomes]
rs6855350	0.88[ASN][1000 genomes]
rs6855380	0.92[ASN][1000 genomes]
rs6855386	0.88[ASN][1000 genomes]
rs71607810	0.88[ASN][1000 genomes]
rs71607811	0.92[ASN][1000 genomes]
rs71607812	0.90[ASN][1000 genomes]
rs73866043	0.92[ASN][1000 genomes]
rs73866044	0.92[ASN][1000 genomes]
rs73866045	0.92[ASN][1000 genomes]
rs73866069	0.92[ASN][1000 genomes]
rs73866098	0.92[ASN][1000 genomes]
rs7667249	0.88[ASN][1000 genomes]
rs7667290	0.88[ASN][1000 genomes]
rs7669074	0.92[ASN][1000 genomes]
rs7670495	0.92[ASN][1000 genomes]
rs7670523	0.92[ASN][1000 genomes]
rs7676680	0.92[ASN][1000 genomes]
rs7681130	0.86[EUR][1000 genomes]
rs7694510	0.92[ASN][1000 genomes]
rs9994841	0.92[ASN][1000 genomes]
rs9995101	0.82[EUR][1000 genomes]
rs9996819	0.90[ASN][1000 genomes]
rs9996914	0.90[ASN][1000 genomes]
rs9997039	0.90[ASN][1000 genomes]
rs9997272	0.81[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	nsv830151	chr4:171423566-171577867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv596167	chr4:171576294-171672038	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1596248	PMS1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171575400-171576600	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links