Variant report

Variant	rs10748424
Chromosome Location	chr12:45870318-45870319
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	chr12:45867797..45870774-chr12:46120791..46124343,3	MCF-7	breast:
2	chr12:45867911..45870398-chr12:45938179..45940092,2	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10736027	0.88[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs10748425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785574	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785575	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785576	0.90[EUR][1000 genomes]
rs10785578	0.90[EUR][1000 genomes]
rs10880791	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10880792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880794	0.93[EUR][1000 genomes]
rs11183062	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183064	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183070	0.94[JPT][hapmap]
rs11183071	0.94[JPT][hapmap]
rs12228136	0.94[JPT][hapmap]
rs12303153	0.85[ASN][1000 genomes]
rs12832353	0.85[ASN][1000 genomes]
rs17096009	0.92[EUR][1000 genomes]
rs2408253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2408254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408255	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2408256	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2408272	0.93[EUR][1000 genomes]
rs2408318	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2408323	0.93[EUR][1000 genomes]
rs2408325	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897904	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2897905	0.93[EUR][1000 genomes]
rs2897907	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34331166	0.85[ASN][1000 genomes]
rs35449278	0.85[ASN][1000 genomes]
rs4378456	0.85[ASN][1000 genomes]
rs4444141	0.82[CEU][hapmap]
rs4570651	0.93[EUR][1000 genomes]
rs4768090	0.90[EUR][1000 genomes]
rs4768091	0.90[EUR][1000 genomes]
rs4768620	0.92[EUR][1000 genomes]
rs4768623	0.93[EUR][1000 genomes]
rs5003954	0.93[EUR][1000 genomes]
rs56217910	0.93[EUR][1000 genomes]
rs6582553	0.84[EUR][1000 genomes]
rs7133173	0.89[EUR][1000 genomes]
rs7302122	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311901	0.93[EUR][1000 genomes]
rs7316226	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484690	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7486952	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7968560	0.92[CEU][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr12:45865200-45870600	Weak transcription	Adipose Nuclei	Adipose
2	chr12:45866600-45870800	Enhancers	Fetal Thymus	thymus
3	chr12:45868000-45870400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:45868600-45870600	Enhancers	Thymus	Thymus

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