Variant report

Variant	rs12675555
Chromosome Location	chr8:69916049-69916050
allele	A/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	POLR2A	chr8:69914930-69916249	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253658	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10504435	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12545358	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12545420	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12549168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550286	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12550397	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12675576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935360	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55729603	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6990230	0.86[ASN][1000 genomes]
rs6999385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73683795	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73683796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683801	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819411	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7819425	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7825661	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69879600-69917200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:69906400-69928400	Weak transcription	HSMM	muscle
3	chr8:69908600-69920400	Weak transcription	Osteobl	bone
4	chr8:69914000-69917800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:69914200-69919200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:69915800-69916600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:69916000-69916200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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