Variant report

Variant	rs11111948
Chromosome Location	chr12:104641097-104641098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:104640985-104641916	A549	lung:	n/a	chr12:104641154-104641163

No.	Distal block	Cell Line	Cell type
1	chr12:104640550..104643138-chr12:104680715..104683734,3	MCF-7	breast:
2	chr12:104640249..104641804-chr12:104684614..104686978,2	MCF-7	breast:
3	chr12:104639901..104642308-chr12:104681072..104683014,3	K562	blood:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000198431	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10861174	0.82[ASN][1000 genomes]
rs11111947	0.84[ASN][1000 genomes]
rs11111949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11832165	0.88[ASN][1000 genomes]
rs11832923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11833441	0.88[ASN][1000 genomes]
rs11838096	0.88[ASN][1000 genomes]
rs11838099	0.88[ASN][1000 genomes]
rs12299988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12312443	1.00[ASN][1000 genomes]
rs17035284	0.88[ASN][1000 genomes]
rs17806577	0.82[ASN][1000 genomes]
rs28651552	0.94[ASN][1000 genomes]
rs34217906	0.89[ASN][1000 genomes]
rs34494070	0.89[ASN][1000 genomes]
rs41453549	1.00[ASN][1000 genomes]
rs56406045	0.94[ASN][1000 genomes]
rs57036458	0.88[ASN][1000 genomes]
rs58420147	0.88[ASN][1000 genomes]
rs59097029	0.82[ASN][1000 genomes]
rs59259947	1.00[ASN][1000 genomes]
rs60333117	1.00[ASN][1000 genomes]
rs61109788	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61116111	0.88[ASN][1000 genomes]
rs61234792	0.82[ASN][1000 genomes]
rs61485460	0.88[ASN][1000 genomes]
rs61497238	0.88[ASN][1000 genomes]
rs61665972	0.88[ASN][1000 genomes]
rs7313573	0.82[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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104638000-104642400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:104638000-104642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:104641000-104642600	Enhancers	A549	lung

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