Variant report

Variant	rs56004980
Chromosome Location	chr5:118185767-118185768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10447237	0.91[EUR][1000 genomes]
rs10447238	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10447266	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11241476	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13166967	0.86[EUR][1000 genomes]
rs17132673	0.87[EUR][1000 genomes]
rs17144714	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1864109	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2081957	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2099092	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2115301	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2115302	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2162888	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3813297	0.88[EUR][1000 genomes]
rs3813298	0.88[EUR][1000 genomes]
rs386288	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs406335	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4895353	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4895354	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55821851	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55876313	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs581887	0.89[AMR][1000 genomes]
rs62374075	0.91[AFR][1000 genomes]
rs635083	0.83[AMR][1000 genomes]
rs6870923	0.83[AFR][1000 genomes]
rs6881583	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73234502	0.91[EUR][1000 genomes]
rs73236920	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7709381	0.87[EUR][1000 genomes]
rs7724403	0.81[AFR][1000 genomes]
rs822743	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs849728	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv882771	chr5:118170135-118230640	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882772	chr5:118173127-118230640	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118167800-118186400	Weak transcription	Liver	Liver
2	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
3	chr5:118172200-118188600	Weak transcription	Primary T cells from cord blood	blood
4	chr5:118175400-118186200	Weak transcription	Primary B cells from cord blood	blood

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