Variant report

Variant	rs12498985
Chromosome Location	chr4:125925433-125925434
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	chr4:125918209..125919941-chr4:125924627..125926598,2	MCF-7	breast:
2	chr4:125923005..125925497-chr4:125931672..125933997,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10011547	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10011629	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10033352	0.81[EUR][1000 genomes]
rs11945367	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12331701	0.81[EUR][1000 genomes]
rs12331762	0.81[EUR][1000 genomes]
rs12499252	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12499593	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12500237	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12500339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12501606	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12506963	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12508712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12508853	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12512668	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17008928	0.81[EUR][1000 genomes]
rs17008930	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17008941	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17009001	1.00[EUR][1000 genomes]
rs17009072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17009089	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009136	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28407125	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28464443	0.81[EUR][1000 genomes]
rs35278497	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56289879	1.00[AFR][1000 genomes]
rs57893045	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72922698	0.91[EUR][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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 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	chr4:125921000-125926600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:125922800-125928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:125925400-125926800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:125925400-125926800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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