Variant report

Variant	rs17123109
Chromosome Location	chr12:48887593-48887594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48887453..48890090-chr12:48892571..48894412,2	MCF-7	breast:
2	chr12:48882871..48884702-chr12:48885100..48887755,2	K562	blood:
3	chr12:48887538..48890353-chr12:48917589..48920002,2	K562	blood:

Variant related genes	Relation type
ENSG00000197376	Chromatin interaction
ENSG00000177627	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11168584	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11168601	0.81[EUR][1000 genomes]
rs11609658	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612896	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11613869	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829869	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11830262	0.91[EUR][1000 genomes]
rs11832311	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11833650	0.91[EUR][1000 genomes]
rs11834979	0.91[EUR][1000 genomes]
rs11836257	0.89[EUR][1000 genomes]
rs11837374	0.91[EUR][1000 genomes]
rs12318285	0.91[CHB][hapmap];0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs12424097	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12424940	0.91[EUR][1000 genomes]
rs12425518	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs17123105	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17123106	0.81[EUR][1000 genomes]
rs17123108	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17123138	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2068293	1.00[CEU][hapmap]
rs2731072	0.87[CHB][hapmap]
rs34400124	0.89[EUR][1000 genomes]
rs4146339	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4146340	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4237857	1.00[CEU][hapmap]
rs4265629	1.00[CEU][hapmap]
rs4344535	1.00[CEU][hapmap]
rs4500527	1.00[CEU][hapmap]
rs4620769	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4760632	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760712	1.00[CEU][hapmap]
rs4760727	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56053566	0.82[ASN][1000 genomes]
rs56796388	0.91[EUR][1000 genomes]
rs60874066	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61096762	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72644858	0.91[EUR][1000 genomes]
rs72644859	0.91[EUR][1000 genomes]
rs72644862	0.91[EUR][1000 genomes]
rs72644863	0.91[EUR][1000 genomes]
rs72644864	0.89[EUR][1000 genomes]
rs72644865	0.80[AMR][1000 genomes]
rs73300707	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73300718	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73302549	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74087209	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7956679	1.00[CEU][hapmap]
rs7966826	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7967630	0.84[EUR][1000 genomes]
rs9788163	0.96[EUR][1000 genomes];0.96[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975416	chr12:48882416-48893049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48887000-48891800	Weak transcription	Brain Hippocampus Middle	brain

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