Variant report

Variant	rs9723244
Chromosome Location	chr12:123939394-123939395
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	chr12:123848128..123849893-chr12:123937989..123939735,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11497310	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11507743	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11516174	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11516175	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11516178	0.82[EUR][1000 genomes]
rs11522341	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11522342	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11522343	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11523309	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11535679	0.90[EUR][1000 genomes]
rs13303358	0.81[EUR][1000 genomes]
rs28493578	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28703907	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28728075	0.81[EUR][1000 genomes]
rs28781570	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28894691	0.87[AMR][1000 genomes]
rs61953496	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7957839	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9697330	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9697415	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9697423	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9723026	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9777715	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9777830	0.92[AMR][1000 genomes];0.93[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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123933400-123942200	Weak transcription	Thymus	Thymus
2	chr12:123934200-123942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123934800-123939400	Weak transcription	K562	blood
4	chr12:123937200-123942200	Weak transcription	Placenta	Placenta
5	chr12:123938200-123942400	Weak transcription	HepG2	liver

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