Variant report

Variant	rs41613
Chromosome Location	chr7:120420442-120420443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs114420	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11976580	0.93[ASN][1000 genomes]
rs12154976	0.97[EUR][1000 genomes]
rs12673417	1.00[ASN][1000 genomes]
rs17132731	0.93[ASN][1000 genomes]
rs17142976	1.00[ASN][1000 genomes]
rs17143013	0.93[ASN][1000 genomes]
rs2189974	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525706	0.81[ASN][1000 genomes]
rs2525710	0.81[ASN][1000 genomes]
rs2721329	0.81[ASN][1000 genomes]
rs2721330	0.81[ASN][1000 genomes]
rs2721332	0.93[ASN][1000 genomes]
rs2721344	0.93[ASN][1000 genomes]
rs2721346	0.93[ASN][1000 genomes]
rs2721348	0.93[ASN][1000 genomes]
rs2721360	0.93[ASN][1000 genomes]
rs2721371	0.93[ASN][1000 genomes]
rs41612	0.96[EUR][1000 genomes]
rs41614	0.88[EUR][1000 genomes]
rs41616	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41617	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41619	0.87[EUR][1000 genomes]
rs41620	0.86[EUR][1000 genomes]
rs41621	0.81[EUR][1000 genomes]
rs41622	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41623	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41624	0.81[EUR][1000 genomes]
rs41626	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41628	0.81[EUR][1000 genomes]
rs42333	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730982	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733320	1.00[ASN][1000 genomes]
rs55749650	0.88[ASN][1000 genomes]
rs56023697	0.93[ASN][1000 genomes]
rs56067931	1.00[ASN][1000 genomes]
rs61481874	0.93[ASN][1000 genomes]
rs67679138	1.00[ASN][1000 genomes]
rs73427871	0.93[ASN][1000 genomes]
rs73427873	0.93[ASN][1000 genomes]
rs73427878	0.93[ASN][1000 genomes]
rs73721472	0.94[ASN][1000 genomes]
rs7805733	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810542	1.00[ASN][1000 genomes]
rs886440	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41613	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120414800-120421200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:120416400-120424800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:120418200-120423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:120418600-120423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:120419800-120423800	Weak transcription	Placenta Amnion	Placenta Amnion

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