Variant report

Variant	rs6137582
Chromosome Location	chr20:22197211-22197212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr20:22197029-22197229	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22197179..22199086-chr20:22218639..22222093,3	K562	blood:

Variant related genes	Relation type
ENSG00000234862	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1090292	0.83[ASN][1000 genomes]
rs1090293	0.83[ASN][1000 genomes]
rs1159466	0.86[ASN][1000 genomes]
rs12625314	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12625315	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1337906	0.94[EUR][1000 genomes]
rs1337907	0.93[EUR][1000 genomes]
rs1337908	0.84[AFR][1000 genomes]
rs1415801	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569782	0.82[AFR][1000 genomes]
rs28657921	0.88[AFR][1000 genomes]
rs2876633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813451	0.80[AFR][1000 genomes]
rs4813452	0.80[AFR][1000 genomes]
rs4815098	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4815099	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6082642	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6106481	0.86[AFR][1000 genomes]
rs6113583	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6113585	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6113624	0.80[AFR][1000 genomes]
rs62202797	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62202800	0.88[AFR][1000 genomes]
rs709005	0.84[ASN][1000 genomes]
rs709006	0.83[ASN][1000 genomes]
rs709007	0.83[ASN][1000 genomes]
rs742655	0.84[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804609	0.85[ASN][1000 genomes]
rs804610	0.98[ASN][1000 genomes]
rs804612	0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804614	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804615	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs804616	0.85[ASN][1000 genomes]
rs804617	0.83[ASN][1000 genomes]
rs804618	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22194400-22197600	Weak transcription	GM12878-XiMat	blood
2	chr20:22196800-22197600	Enhancers	NHEK	skin
3	chr20:22197000-22197600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:22197200-22197600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links