Variant report

Variant	rs8048886
Chromosome Location	chr16:80559659-80559660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79103992..79106685-chr16:80558590..80561152,2	K562	blood:
2	chr16:80559100..80562719-chr16:80573545..80577468,3	MCF-7	breast:
3	chr16:80559326..80561966-chr16:80751074..80753973,2	MCF-7	breast:
4	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:

Variant related genes	Relation type
ENSG00000259867	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11640665	0.89[AFR][1000 genomes]
rs28558345	0.80[AMR][1000 genomes]
rs4392091	0.82[AMR][1000 genomes]
rs4558433	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4577099	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889156	0.82[AMR][1000 genomes]
rs7185063	0.80[AMR][1000 genomes]
rs7189437	0.85[ASN][1000 genomes]
rs7189457	0.82[AMR][1000 genomes]
rs7190501	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192862	0.82[AMR][1000 genomes]
rs7196394	0.80[AMR][1000 genomes]
rs7197982	0.80[AMR][1000 genomes]
rs8044239	0.82[AMR][1000 genomes]
rs8047198	0.89[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs8053848	0.82[AMR][1000 genomes]
rs8059886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806865	0.82[AMR][1000 genomes]
rs9806870	0.82[AMR][1000 genomes]
rs9806915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9806977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9928594	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9935535	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9938023	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr16:80558800-80561000	Enhancers	Fetal Kidney	kidney
2	chr16:80559200-80560000	Enhancers	Fetal Intestine Small	intestine
3	chr16:80559400-80559800	Enhancers	Fetal Intestine Large	intestine
4	chr16:80559400-80560000	Enhancers	Liver	Liver

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