Variant report

Variant	rs16947644
Chromosome Location	chr12:117931898-117931899
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	chr12:117927918..117930716-chr12:117931239..117933024,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11068511	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068512	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068513	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068514	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068515	0.83[EUR][1000 genomes]
rs11068523	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12296893	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12298118	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12298168	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12302548	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12306412	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12306876	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12316783	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12319092	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16947636	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16947663	0.82[ASN][1000 genomes]
rs55698241	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55974696	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56005605	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56064940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59673657	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60456228	0.93[AFR][1000 genomes]
rs61573358	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7304665	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73401447	0.91[AMR][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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117920800-117932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:117925400-117933200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117925600-117932600	Weak transcription	Pancreas	Pancrea
4	chr12:117925600-117933200	Weak transcription	Psoas Muscle	Psoas
5	chr12:117925600-117933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:117925600-117933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:117926000-117932800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:117926400-117932200	Weak transcription	A549	lung

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