Variant report

Variant	rs542954
Chromosome Location	chr22:27746639-27746640
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11704447	0.85[ASN][1000 genomes]
rs12483939	0.84[ASN][1000 genomes]
rs12484111	0.86[ASN][1000 genomes]
rs12484185	0.85[ASN][1000 genomes]
rs12484219	0.85[ASN][1000 genomes]
rs13055516	0.80[ASN][1000 genomes]
rs2092078	0.85[ASN][1000 genomes]
rs2092079	0.80[ASN][1000 genomes]
rs2092080	0.80[ASN][1000 genomes]
rs2092082	0.85[ASN][1000 genomes]
rs2342929	0.85[ASN][1000 genomes]
rs4820754	0.81[ASN][1000 genomes]
rs4822871	0.85[ASN][1000 genomes]
rs533794	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55727276	0.92[ASN][1000 genomes]
rs5997228	0.90[ASN][1000 genomes]
rs5997238	0.85[ASN][1000 genomes]
rs6005387	0.87[ASN][1000 genomes]
rs6005404	0.86[ASN][1000 genomes]
rs6005405	0.85[ASN][1000 genomes]
rs748884	0.86[ASN][1000 genomes]
rs760592	0.85[ASN][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv471191	chr22:27730109-27786725	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 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	chr22:27744000-27748200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:27744400-27748000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:27745400-27748400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:27745600-27748600	Weak transcription	NH-A	brain

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