Variant report

Variant	rs12109525
Chromosome Location	chr5:96386579-96386580
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	chr5:96189537..96191977-chr5:96384132..96387078,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10463198	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11740941	1.00[ASN][1000 genomes]
rs11748432	0.96[EUR][1000 genomes]
rs11750003	1.00[ASN][1000 genomes]
rs11958159	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs12110061	0.96[EUR][1000 genomes]
rs13161540	0.88[ASN][1000 genomes]
rs13175726	1.00[ASN][1000 genomes]
rs172724	0.98[ASN][1000 genomes]
rs178396	0.87[EUR][1000 genomes]
rs186413	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs221970	0.83[ASN][1000 genomes]
rs2544775	0.80[ASN][1000 genomes]
rs316206	0.96[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316207	0.96[CEU][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs316208	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316209	0.96[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs316210	0.85[EUR][1000 genomes]
rs316211	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316212	0.94[ASN][1000 genomes]
rs316213	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs316220	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs316226	0.81[ASN][1000 genomes]
rs316227	0.81[ASN][1000 genomes]
rs316228	0.81[ASN][1000 genomes]
rs421173	0.98[ASN][1000 genomes]
rs445037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6861399	0.87[EUR][1000 genomes]
rs7706943	0.88[ASN][1000 genomes]
rs7719380	0.84[EUR][1000 genomes]
rs7720969	0.88[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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96385000-96386600	Enhancers	Fetal Muscle Leg	muscle
2	chr5:96386400-96386800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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