Variant report

Variant	rs72791971
Chromosome Location	chr16:71477297-71477298
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	chr16:71475611..71477671-chr16:71486967..71489095,2	K562	blood:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10468265	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866859	1.00[ASN][1000 genomes]
rs12918320	0.81[EUR][1000 genomes]
rs13336809	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972266	1.00[ASN][1000 genomes]
rs16972805	1.00[ASN][1000 genomes]
rs16972808	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973000	1.00[ASN][1000 genomes]
rs16973112	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973190	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973286	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1804984	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2052873	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886947	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222754	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821244	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59364668	0.85[EUR][1000 genomes]
rs61171207	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499521	0.82[EUR][1000 genomes]
rs7188021	1.00[ASN][1000 genomes]
rs7197127	1.00[ASN][1000 genomes]
rs72791974	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72795864	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795867	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72795869	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795881	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797728	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8044168	1.00[ASN][1000 genomes]
rs8049040	1.00[ASN][1000 genomes]
rs8050135	1.00[ASN][1000 genomes]
rs8051439	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056735	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940485	1.00[ASN][1000 genomes]
rs9989376	0.88[EUR][1000 genomes]
rs9989377	0.97[EUR][1000 genomes];1.00[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72791971	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71474800-71478400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71475000-71479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:71476400-71478200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:71476600-71478000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr16:71476800-71482000	Weak transcription	HepG2	liver

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