Variant report

Variant	rs545385
Chromosome Location	chr12:40356713-40356714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40355227-40369361..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11174115	1.00[ASW][hapmap]
rs11174631	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11564117	1.00[AFR][1000 genomes]
rs11564214	1.00[AFR][1000 genomes]
rs11564216	1.00[ASW][hapmap];0.95[MEX][hapmap]
rs12423682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423983	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12425167	0.88[AMR][1000 genomes]
rs12425561	1.00[AFR][1000 genomes]
rs12426643	1.00[AFR][1000 genomes]
rs17458808	1.00[AFR][1000 genomes]
rs17461387	1.00[AFR][1000 genomes]
rs17483919	1.00[AFR][1000 genomes]
rs17559478	0.87[AMR][1000 genomes]
rs17559800	0.90[MEX][hapmap];0.88[AMR][1000 genomes]
rs17560267	0.90[AMR][1000 genomes]
rs17560365	0.82[AMR][1000 genomes]
rs1874558	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2173134	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28365669	1.00[JPT][hapmap]
rs28370602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28370606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28740171	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768206	1.00[JPT][hapmap]
rs535458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs549790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs566044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953493	0.90[MEX][hapmap]

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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
3	chr12:40348200-40361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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