Variant report

Variant	rs4820969
Chromosome Location	chr22:31773573-31773574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31740429..31742662-chr22:31772088..31774289,2	MCF-7	breast:
2	chr22:31746827..31749730-chr22:31771450..31774509,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11703927	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12166373	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12167361	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13053245	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13058363	0.87[EUR][1000 genomes]
rs131200	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs131202	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs131209	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs131219	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs131220	0.80[AMR][1000 genomes]
rs140074	0.93[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs140077	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009132	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2012451	0.86[YRI][hapmap]
rs2013254	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2413048	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28523714	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28715	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28716	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28813120	0.84[EUR][1000 genomes]
rs35955747	0.81[EUR][1000 genomes]
rs4820045	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4820961	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753558	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753576	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994397	1.00[CEU][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs5997909	0.83[EUR][1000 genomes]
rs5997919	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs5997929	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997932	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997938	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997960	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997971	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997980	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997981	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997988	0.86[YRI][hapmap]
rs6518737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6518745	1.00[CEU][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes]
rs713947	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7285171	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7287402	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7288643	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7288735	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7289189	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7289337	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs739427	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8141987	0.81[EUR][1000 genomes]
rs8143002	0.81[EUR][1000 genomes]
rs926928	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9606835	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9619187	0.88[EUR][1000 genomes]
rs9621216	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9621221	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9621227	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621255	0.82[AMR][1000 genomes];0.85[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4820969	SFI1	cis	Thyroid	GTEx
rs4820969	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31773400-31773600	Enhancers	Fetal Kidney	kidney
2	chr22:31773400-31773800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31773400-31774400	Enhancers	Fetal Lung	lung
4	chr22:31773400-31774600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links