Variant report

Variant	rs12631948
Chromosome Location	chr3:179889583-179889584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:9824972..9827874-chr3:179888956..179891080,2	MCF-7	breast:
2	chr3:179888173..179890774-chr3:179892672..179895400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264462	Chromatin interaction
ENSG00000264063	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10222466	0.85[ASN][1000 genomes]
rs10937022	0.81[ASN][1000 genomes]
rs11709960	0.94[ASN][1000 genomes]
rs11718127	0.83[EUR][1000 genomes]
rs12631680	0.85[ASN][1000 genomes]
rs12633042	0.81[ASN][1000 genomes]
rs12636328	0.89[ASN][1000 genomes]
rs12637429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404744	0.82[ASN][1000 genomes]
rs1464844	0.80[ASN][1000 genomes]
rs1525269	0.80[ASN][1000 genomes]
rs1525277	0.92[ASN][1000 genomes]
rs1608796	0.81[ASN][1000 genomes]
rs16831219	0.94[EUR][1000 genomes]
rs16831259	0.82[ASN][1000 genomes]
rs1830044	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2030763	0.80[ASN][1000 genomes]
rs2177723	0.96[EUR][1000 genomes]
rs2178582	0.85[ASN][1000 genomes]
rs2222858	0.83[ASN][1000 genomes]
rs28703130	0.85[ASN][1000 genomes]
rs3849420	0.87[ASN][1000 genomes]
rs4343625	0.82[ASN][1000 genomes]
rs4854901	0.83[EUR][1000 genomes]
rs4854959	0.80[ASN][1000 genomes]
rs59555202	0.83[ASN][1000 genomes]
rs60202080	0.85[ASN][1000 genomes]
rs62292260	0.83[ASN][1000 genomes]
rs62292286	0.82[ASN][1000 genomes]
rs62292288	0.82[ASN][1000 genomes]
rs62292294	0.81[ASN][1000 genomes]
rs6790465	0.84[ASN][1000 genomes]
rs68014168	0.96[EUR][1000 genomes]
rs7619775	0.80[ASN][1000 genomes]
rs7621628	0.88[ASN][1000 genomes]
rs9290697	0.83[ASN][1000 genomes]
rs9812621	0.80[ASN][1000 genomes]
rs9821124	0.92[ASN][1000 genomes]
rs9845934	0.83[ASN][1000 genomes]
rs9857420	0.84[ASN][1000 genomes]
rs9862989	0.83[ASN][1000 genomes]
rs9877454	0.80[ASN][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	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179885400-179898200	Weak transcription	HMEC	breast
2	chr3:179887400-179890400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:179889200-179889600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:179889400-179889600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:179889400-179889800	Enhancers	HUES64 Cell Line	embryonic stem cell

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