Variant report

Variant	rs72846083
Chromosome Location	chr6:36844746-36844747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr6:36844668-36844863	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36844707..36849057-chr6:36849516..36855847,7	K562	blood:
2	chr6:36843073..36845440-chr6:37281034..37282864,2	K562	blood:
3	chr6:36841338..36845965-chr6:36851992..36855231,4	MCF-7	breast:
4	chr6:36843073..36845711-chr6:37281034..37284112,3	K562	blood:

Variant related genes	Relation type
PPIL1	TF binding region
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11751790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11751844	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11754437	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11756425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758807	0.87[EUR][1000 genomes]
rs12661551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12664239	0.93[ASN][1000 genomes]
rs2071822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293394	0.85[ASN][1000 genomes]
rs28673271	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4711470	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4711472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714015	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4714019	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714020	0.93[ASN][1000 genomes]
rs60097056	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62406642	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62406644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6900068	0.85[ASN][1000 genomes]
rs6910582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912602	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6912891	0.93[ASN][1000 genomes]
rs6913047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349015	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9349017	0.82[ASN][1000 genomes]
rs9357229	0.93[ASN][1000 genomes]
rs9368963	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9368964	0.89[EUR][1000 genomes]
rs9368965	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380607	0.89[AFR][1000 genomes]
rs9380614	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394387	0.89[AFR][1000 genomes];0.88[EUR][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36843600-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:36843600-36847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:36843600-36853000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:36843800-36846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:36843800-36846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:36843800-36853000	Weak transcription	Osteobl	bone
7	chr6:36844000-36846600	Weak transcription	Fetal Heart	heart
8	chr6:36844200-36846000	Weak transcription	K562	blood

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