Variant report

Variant	rs72709788
Chromosome Location	chr4:186865547-186865548
allele	A/G
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	chr4:186865366-186865739	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:186865313-186865862	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000239034	TF binding region

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10007140	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10010181	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10017824	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10020577	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13112850	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13118657	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2019087	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28616573	0.89[EUR][1000 genomes]
rs28624504	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4862603	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709783	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709784	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72709785	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7437509	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9995356	0.90[EUR][1000 genomes]
rs9998379	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9998403	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9998425	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9998433	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186847800-186872400	Weak transcription	Right Atrium	heart
2	chr4:186863000-186865800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:186864200-186866000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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