Variant report

Variant	rs17035253
Chromosome Location	chr12:104561276-104561277
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	JUND	chr12:104561165-104561853	T-47D	breast:	n/a	n/a
2	NR3C1	chr12:104561240-104561599	A549	lung:	n/a	chr12:104561425-104561439 chr12:104561423-104561440
3	EP300	chr12:104561191-104561632	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104556259..104558196-chr12:104560422..104562244,2	K562	blood:
2	chr12:104560247..104562977-chr12:104565263..104567117,2	K562	blood:

Variant related genes	Relation type
ENSG00000257193	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11829922	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11836627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837739	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303096	0.87[EUR][1000 genomes]
rs12303143	0.87[EUR][1000 genomes]
rs17035296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17806643	0.93[AFR][1000 genomes]
rs17807362	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35861067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57040145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57416848	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57718153	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58005041	0.82[AFR][1000 genomes]
rs58729796	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59185359	0.94[AMR][1000 genomes]
rs59945395	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60264625	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61690515	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73392529	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392580	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73392594	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73394503	0.82[EUR][1000 genomes]
rs73394521	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73394563	0.94[AMR][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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104559200-104563800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:104560000-104562800	Enhancers	Placenta	Placenta
3	chr12:104560600-104563800	Weak transcription	Right Ventricle	heart
4	chr12:104560600-104565800	Weak transcription	Spleen	Spleen

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