Variant report

Variant	rs12499593
Chromosome Location	chr4:125880240-125880241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125866462..125869040-chr4:125880011..125881725,2	MCF-7	breast:
2	chr4:125878708..125881859-chr4:125882338..125884780,4	MCF-7	breast:
3	chr4:125879691..125882061-chr4:125882934..125885892,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10011547	0.81[EUR][1000 genomes]
rs10011629	0.81[EUR][1000 genomes]
rs10033352	0.81[EUR][1000 genomes]
rs11945367	0.81[EUR][1000 genomes]
rs12331701	0.81[EUR][1000 genomes]
rs12331762	0.81[EUR][1000 genomes]
rs12498985	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12499252	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12500237	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12500339	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12501606	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12506963	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12508712	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12508853	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512668	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17008928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008941	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009001	0.81[EUR][1000 genomes]
rs17009072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17009089	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17009136	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28407125	0.81[EUR][1000 genomes]
rs28464443	0.81[EUR][1000 genomes]
rs35278497	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56289879	1.00[AFR][1000 genomes]
rs57893045	0.91[EUR][1000 genomes]
rs72922698	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 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	chr4:125878800-125881200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:125879800-125880400	Enhancers	HUVEC	blood vessel
3	chr4:125880200-125882200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links