Variant report

Variant	rs12191171
Chromosome Location	chr6:49388620-49388621
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	chr6:47754976..47756813-chr6:49388575..49390933,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10484961	1.00[ASW][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10948505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948507	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11964378	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11970105	0.88[EUR][1000 genomes]
rs12189789	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197340	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197394	0.88[EUR][1000 genomes]
rs12198507	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12202875	0.88[ASN][1000 genomes]
rs12204398	0.88[ASN][1000 genomes]
rs12204617	0.88[ASN][1000 genomes]
rs12206768	0.88[ASN][1000 genomes]
rs12208117	0.88[ASN][1000 genomes]
rs12208221	0.88[ASN][1000 genomes]
rs12214010	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214609	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17663627	0.88[ASN][1000 genomes]
rs2127756	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2127759	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229385	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295476	0.80[EUR][1000 genomes]
rs57912929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928563	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774623	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12191171	MUT	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49382000-49396600	Weak transcription	Aorta	Aorta
2	chr6:49383400-49399800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:49384200-49398400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links