Variant report

Variant	rs5997971
Chromosome Location	chr22:31792292-31792293
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	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
2	chr22:31790215..31792897-chr22:31793771..31797373,3	K562	blood:

Variant related genes	Relation type
ENSG00000185721	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11703927	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs12166373	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12167361	0.81[EUR][1000 genomes]
rs13053245	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13058363	0.90[EUR][1000 genomes]
rs131200	0.83[EUR][1000 genomes]
rs131202	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs131209	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs131213	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs131219	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs131220	0.80[AMR][1000 genomes]
rs140074	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs140077	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1543416	0.83[YRI][hapmap]
rs2012451	0.96[YRI][hapmap]
rs2013254	0.80[EUR][1000 genomes]
rs28523714	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28716	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35955747	0.81[EUR][1000 genomes]
rs4820045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820048	0.83[YRI][hapmap]
rs4820961	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs4820969	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4820983	0.82[YRI][hapmap]
rs5753558	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753576	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997919	0.91[CEU][hapmap]
rs5997929	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs5997938	0.80[EUR][1000 genomes]
rs5997960	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5997980	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997981	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997986	0.80[EUR][1000 genomes]
rs5997988	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6518745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs713947	0.91[CEU][hapmap]
rs7285171	0.91[CEU][hapmap]
rs7287402	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7288643	0.80[EUR][1000 genomes]
rs7288735	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7289189	0.80[EUR][1000 genomes]
rs7289337	0.80[EUR][1000 genomes]
rs7289941	0.82[YRI][hapmap]
rs739427	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs926928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9606835	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9619187	0.80[EUR][1000 genomes]
rs9621221	0.92[CEU][hapmap]
rs9621255	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997971	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31790600-31794000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr22:31790800-31794800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:31792200-31793600	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links