Variant report

Variant	rs73427878
Chromosome Location	chr7:120509445-120509446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120504054..120506275-chr7:120506621..120509574,2	K562	blood:
2	chr7:120499951..120501985-chr7:120508441..120511636,3	K562	blood:
3	chr7:120501243..120503958-chr7:120508680..120510304,2	K562	blood:
4	chr7:120507573..120510095-chr7:120511192..120513346,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs114420	0.86[ASN][1000 genomes]
rs11976580	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673417	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17132731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142976	0.93[ASN][1000 genomes]
rs17143001	0.85[EUR][1000 genomes]
rs17143009	0.85[EUR][1000 genomes]
rs17143013	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189974	0.86[ASN][1000 genomes]
rs2525706	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2525710	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721329	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721330	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721332	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721344	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721346	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721348	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721360	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721371	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41613	0.93[ASN][1000 genomes]
rs41616	0.93[ASN][1000 genomes]
rs41617	0.93[ASN][1000 genomes]
rs41622	0.93[ASN][1000 genomes]
rs41623	0.93[ASN][1000 genomes]
rs41626	0.93[ASN][1000 genomes]
rs42333	0.93[ASN][1000 genomes]
rs4730982	0.93[ASN][1000 genomes]
rs55733320	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55749650	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56023697	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067931	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61481874	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67679138	0.93[ASN][1000 genomes]
rs73427862	0.85[EUR][1000 genomes]
rs73427871	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721472	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805733	0.93[ASN][1000 genomes]
rs7810542	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs886440	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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 target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73427878	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120506000-120511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:120508600-120518200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:120509400-120509600	Enhancers	GM12878-XiMat	blood

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