Variant report

Variant	rs72721082
Chromosome Location	chr14:68083625-68083626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
2	chr14:68075056..68078713-chr14:68081163..68083960,3	K562	blood:
3	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000259502	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10459532	0.88[EUR][1000 genomes]
rs1059238	0.86[EUR][1000 genomes]
rs11622441	0.86[EUR][1000 genomes]
rs11623700	0.86[EUR][1000 genomes]
rs11624498	0.86[EUR][1000 genomes]
rs11624868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11625839	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628860	0.86[EUR][1000 genomes]
rs12050393	0.86[EUR][1000 genomes]
rs17104490	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104526	0.84[EUR][1000 genomes]
rs17104544	0.86[EUR][1000 genomes]
rs17104550	0.85[EUR][1000 genomes]
rs17249472	0.86[EUR][1000 genomes]
rs2234511	0.86[EUR][1000 genomes]
rs28390085	0.83[EUR][1000 genomes]
rs28532066	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742880	0.86[EUR][1000 genomes]
rs3742881	0.88[EUR][1000 genomes]
rs4902506	0.86[EUR][1000 genomes]
rs4902508	0.88[EUR][1000 genomes]
rs56083029	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56244142	0.88[EUR][1000 genomes]
rs56256221	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140310	0.85[EUR][1000 genomes]
rs7142897	0.88[EUR][1000 genomes]
rs7144186	0.85[AMR][1000 genomes]
rs7144243	0.97[ASN][1000 genomes]
rs7148327	0.83[AMR][1000 genomes]
rs7151205	0.86[EUR][1000 genomes]
rs7151230	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152326	0.88[EUR][1000 genomes]
rs7155788	0.83[EUR][1000 genomes]
rs72721090	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72723111	0.86[EUR][1000 genomes]
rs72723115	0.86[EUR][1000 genomes]
rs72723122	0.88[EUR][1000 genomes]
rs72723126	0.88[EUR][1000 genomes]
rs72723137	0.88[EUR][1000 genomes]
rs72723144	0.88[EUR][1000 genomes]
rs761513	0.85[EUR][1000 genomes]
rs761514	0.86[EUR][1000 genomes]
rs8009250	0.85[EUR][1000 genomes]
rs8013767	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv977481	chr14:68081887-68084327	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72721082	RDH11	cis	Nerve Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68076800-68086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68082400-68086000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:68082800-68085600	Weak transcription	NHEK	skin
4	chr14:68082800-68085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:68083400-68085600	Weak transcription	Fetal Muscle Leg	muscle

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