Variant report

Variant	rs73394507
Chromosome Location	chr12:104618110-104618111
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	CEBPB	chr12:104618089-104618348	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
2	chr12:104617645..104619997-chr12:104678987..104680569,2	K562	blood:
3	chr12:104617675..104620122-chr12:104673280..104676243,2	K562	blood:
4	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000198431	Chromatin interaction
ENSG00000257732	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11111931	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11111946	0.91[EUR][1000 genomes]
rs12296767	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12308914	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12310731	0.83[EUR][1000 genomes]
rs12311576	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12314235	0.82[EUR][1000 genomes]
rs12322184	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12322245	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17035297	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56406045	0.81[EUR][1000 genomes]
rs57554346	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59871203	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61524019	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73392581	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392588	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73392593	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73394524	0.89[EUR][1000 genomes]
rs73394536	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104614000-104619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:104614000-104623400	Weak transcription	Right Atrium	heart
3	chr12:104614200-104619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104615000-104620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:104615000-104625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104617400-104618800	Enhancers	Placenta	Placenta
7	chr12:104617400-104619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:104617800-104618800	Enhancers	A549	lung
9	chr12:104617800-104620200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:104618000-104620200	Weak transcription	HMEC	breast

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