Variant report

Variant	rs28532066
Chromosome Location	chr14:68072315-68072316
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10459532	0.84[EUR][1000 genomes]
rs1059238	0.83[EUR][1000 genomes]
rs11622441	0.83[EUR][1000 genomes]
rs11623700	0.83[EUR][1000 genomes]
rs11624498	0.83[EUR][1000 genomes]
rs11624868	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625839	0.84[EUR][1000 genomes]
rs11628860	0.83[EUR][1000 genomes]
rs12050393	0.83[EUR][1000 genomes]
rs17104490	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17104526	0.80[EUR][1000 genomes]
rs17104544	0.83[EUR][1000 genomes]
rs17104550	0.82[EUR][1000 genomes]
rs17249472	0.83[EUR][1000 genomes]
rs2234511	0.83[EUR][1000 genomes]
rs3742880	0.83[EUR][1000 genomes]
rs3742881	0.84[EUR][1000 genomes]
rs4902506	0.83[EUR][1000 genomes]
rs4902508	0.84[EUR][1000 genomes]
rs56083029	0.82[EUR][1000 genomes]
rs56244142	0.84[EUR][1000 genomes]
rs56256221	0.96[EUR][1000 genomes]
rs7140310	0.82[EUR][1000 genomes]
rs7142897	0.84[EUR][1000 genomes]
rs7144243	0.89[ASN][1000 genomes]
rs7151205	0.83[EUR][1000 genomes]
rs7151230	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152326	0.84[EUR][1000 genomes]
rs72721082	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72721090	0.93[EUR][1000 genomes]
rs72723111	0.83[EUR][1000 genomes]
rs72723115	0.83[EUR][1000 genomes]
rs72723122	0.84[EUR][1000 genomes]
rs72723126	0.84[EUR][1000 genomes]
rs72723137	0.84[EUR][1000 genomes]
rs72723144	0.84[EUR][1000 genomes]
rs761513	0.82[EUR][1000 genomes]
rs761514	0.83[EUR][1000 genomes]
rs8009250	0.82[EUR][1000 genomes]
rs8013767	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28532066	RDH11	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68071400-68076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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