Variant report

Variant	rs56143032
Chromosome Location	chr2:234574017-234574018
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11568318	0.81[EUR][1000 genomes]
rs1551286	0.84[EUR][1000 genomes]
rs17862835	0.84[EUR][1000 genomes]
rs17862844	0.84[EUR][1000 genomes]
rs17862846	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17862848	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17862851	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17862859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862874	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863784	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17863795	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863800	0.81[EUR][1000 genomes]
rs17864666	0.84[EUR][1000 genomes]
rs17864670	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17864671	0.84[EUR][1000 genomes]
rs17864675	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17864689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864692	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868298	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17868299	0.84[EUR][1000 genomes]
rs17868301	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17868318	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17868320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868338	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17868341	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17874945	0.81[EUR][1000 genomes]
rs28898590	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34916116	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45507691	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56125405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6714486	0.95[EUR][1000 genomes]
rs6755571	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563478	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7585521	0.94[AMR][1000 genomes];0.95[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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv17839	chr2:234569283-234575116	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum

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