Variant report

Variant	rs210192
Chromosome Location	chr6:33481204-33481205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33480361..33482958-chr6:33629089..33631311,2	K562	blood:
2	chr6:33393869..33396201-chr6:33479107..33481448,2	MCF-7	breast:
3	chr6:33479121..33484420-chr6:33487848..33490096,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11757081	0.85[CHB][hapmap]
rs1794687	0.90[EUR][1000 genomes]
rs191902	0.85[EUR][1000 genomes]
rs210177	0.89[EUR][1000 genomes]
rs210178	0.90[EUR][1000 genomes]
rs210180	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs210182	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs210183	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs210184	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs210185	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs210186	0.92[EUR][1000 genomes]
rs210187	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs210196	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs210197	0.96[CEU][hapmap];0.83[CHD][hapmap];0.91[EUR][1000 genomes]
rs210202	0.81[CEU][hapmap]
rs210203	0.85[CEU][hapmap]
rs210207	0.85[CEU][hapmap]
rs210209	0.81[CEU][hapmap]
rs367408	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs367897	0.92[CEU][hapmap];0.83[CHD][hapmap];0.90[EUR][1000 genomes]
rs368429	0.83[EUR][1000 genomes]
rs368716	0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.90[EUR][1000 genomes]
rs371155	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs372469	0.90[EUR][1000 genomes]
rs372846	0.90[EUR][1000 genomes]
rs380163	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs383936	0.89[EUR][1000 genomes]
rs386879	0.88[EUR][1000 genomes]
rs3916269	0.89[EUR][1000 genomes]
rs396516	0.92[CEU][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap];0.90[EUR][1000 genomes]
rs404778	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs405126	0.84[EUR][1000 genomes]
rs447418	0.89[EUR][1000 genomes]
rs449242	0.92[CEU][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap];0.93[EUR][1000 genomes]
rs73404347	0.91[EUR][1000 genomes]
rs9461874	0.88[EUR][1000 genomes]
rs9469481	0.92[CEU][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap];0.90[EUR][1000 genomes]
rs9469483	0.92[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv524010	chr6:33468151-33505981	Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3392894	chr6:33479074-33482772	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv528962	chr6:33480435-33485241	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs210192	FTSJD2	cis	cerebellum	SCAN
rs210192	CDKN1A	cis	parietal	SCAN
rs210192	UHRF1BP1	cis	cerebellum	SCAN
rs210192	HLA-DRB5	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33480200-33481400	Strong transcription	Right Atrium	heart
2	chr6:33480400-33481400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:33480600-33484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:33481000-33488000	Weak transcription	Spleen	Spleen
5	chr6:33481200-33481400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links