Variant report

Variant	rs72848772
Chromosome Location	chr6:27920948-27920949
allele	C/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	POLR2A	chr6:27920419-27924714	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27798392..27800499-chr6:27919319..27921669,2	K562	blood:
2	chr6:27919186..27921383-chr6:27926254..27929750,3	K562	blood:
3	chr6:27919994..27921864-chr6:27922827..27924686,2	K562	blood:
4	chr6:27919640..27921513-chr6:27931624..27933659,2	K562	blood:

Variant related genes	Relation type
OR2B6	TF binding region
ENSG00000214374	Chromatin interaction
ENSG00000197914	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs34144478	0.85[EUR][1000 genomes]
rs34957169	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41269275	0.85[EUR][1000 genomes]
rs61744109	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62620226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846777	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846802	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72847332	0.81[EUR][1000 genomes]
rs72847343	0.81[EUR][1000 genomes]
rs72847348	0.81[EUR][1000 genomes]
rs72847349	0.81[EUR][1000 genomes]
rs72847355	0.85[EUR][1000 genomes]
rs72847356	0.85[EUR][1000 genomes]
rs72847361	0.85[EUR][1000 genomes]
rs72847365	0.85[EUR][1000 genomes]
rs72847370	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72847377	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847379	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847381	0.85[EUR][1000 genomes]
rs72847383	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848752	0.81[EUR][1000 genomes]
rs72848753	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72848754	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72848755	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72848760	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848763	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848766	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848767	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848769	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848770	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848773	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848774	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848776	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848784	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848785	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848793	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851105	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851138	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851139	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851156	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851158	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851161	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851168	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851173	0.83[AMR][1000 genomes]
rs72851179	0.83[AMR][1000 genomes]
rs72851182	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
3	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
4	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
5	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27920200-27922400	Weak transcription	K562	blood
2	chr6:27920400-27921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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