Variant report

Variant	rs72847379
Chromosome Location	chr6:27873090-27873091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27870902..27873198-chr6:28100520..28102131,2	K562	blood:
2	chr6:27871585..27873256-chr6:28048766..28051077,2	K562	blood:
3	chr6:27872438..27874402-chr6:28097309..28099187,2	MCF-7	breast:
4	chr6:27872884..27874867-chr6:28034256..28035767,2	K562	blood:
5	chr6:27870682..27873346-chr6:28302621..28304824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction
ENSG00000272009	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34144478	0.95[EUR][1000 genomes]
rs34957169	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41269275	0.95[EUR][1000 genomes]
rs61744109	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62620226	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846777	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72847332	0.91[EUR][1000 genomes]
rs72847342	0.86[EUR][1000 genomes]
rs72847343	0.91[EUR][1000 genomes]
rs72847348	0.91[EUR][1000 genomes]
rs72847349	0.91[EUR][1000 genomes]
rs72847355	0.95[EUR][1000 genomes]
rs72847356	0.95[EUR][1000 genomes]
rs72847361	0.95[EUR][1000 genomes]
rs72847365	0.95[EUR][1000 genomes]
rs72847370	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72847377	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847381	0.95[EUR][1000 genomes]
rs72847383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848752	0.91[EUR][1000 genomes]
rs72848753	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72848754	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72848755	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72848760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848772	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848793	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851105	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851138	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851139	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851156	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851158	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851161	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851168	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851173	1.00[AMR][1000 genomes]
rs72851179	1.00[AMR][1000 genomes]
rs72851182	1.00[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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27871600-27874200	Weak transcription	Placenta	Placenta
2	chr6:27871600-27875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:27871600-27875600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:27871600-27875600	Weak transcription	HMEC	breast
5	chr6:27871600-27875600	Weak transcription	NHEK	skin
6	chr6:27871600-27883200	Weak transcription	Hela-S3	cervix
7	chr6:27871800-27874000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:27871800-27875600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:27872200-27876200	Strong transcription	K562	blood

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