Variant report

Variant	rs6489188
Chromosome Location	chr12:122660776-122660777
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	chr12:122658960..122662118-chr12:122669326..122672467,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10744239	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10773171	0.84[EUR][1000 genomes]
rs10846939	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846976	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10846977	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10847623	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058323	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12371561	0.90[EUR][1000 genomes]
rs12424694	0.87[EUR][1000 genomes]
rs12427088	0.87[EUR][1000 genomes]
rs2175531	0.80[EUR][1000 genomes]
rs2292443	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35242277	0.80[AMR][1000 genomes]
rs35822906	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4447210	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4758679	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758680	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4758681	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4758682	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4758683	0.83[EUR][1000 genomes]
rs61955561	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6488994	0.80[EUR][1000 genomes]
rs7303129	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7311842	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7311871	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7964127	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7979259	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr12:122658000-122661600	Weak transcription	Liver	Liver
2	chr12:122658600-122667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122658800-122667400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122660600-122660800	Enhancers	K562	blood

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