Variant report

Variant	rs11726201
Chromosome Location	chr4:129362972-129362973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10022598	0.82[EUR][1000 genomes]
rs10049881	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10518530	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17013253	0.86[EUR][1000 genomes]
rs17013256	0.86[EUR][1000 genomes]
rs17013275	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17013315	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28695967	0.85[EUR][1000 genomes]
rs28854219	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28866050	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291081	0.86[EUR][1000 genomes]
rs3853107	0.86[EUR][1000 genomes]
rs3956594	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4000688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572893	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975228	0.83[EUR][1000 genomes]
rs57179394	0.85[EUR][1000 genomes]
rs57543772	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677881	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677885	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677887	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677890	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9307607	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv275440	chr4:129362619-129369873	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11726201	RP11-420A23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11726201	RP11-420A23.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129358600-129363600	Weak transcription	Gastric	stomach
2	chr4:129361200-129363800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:129362600-129363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:129362600-129364800	Weak transcription	A549	lung
5	chr4:129362600-129367000	Weak transcription	Pancreas	Pancrea
6	chr4:129362600-129368600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:129362800-129364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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