Variant report

Variant	rs16984497
Chromosome Location	chr22:27793210-27793211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27068183..27070015-chr22:27791994..27793876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206028	Chromatin interaction
ENSG00000244625	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr22:27785200-27802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:27787600-27794800	Weak transcription	NHEK	skin
3	chr22:27787800-27793400	Weak transcription	Adipose Nuclei	Adipose
4	chr22:27788000-27793800	Weak transcription	Ovary	ovary
5	chr22:27788200-27794000	Weak transcription	Fetal Brain Male	brain
6	chr22:27790000-27794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:27790200-27795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:27792600-27795000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:27793200-27794200	Enhancers	Placenta	Placenta

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