Variant report

Variant	rs114420
Chromosome Location	chr7:120415194-120415195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10266755	0.86[CEU][hapmap]
rs11976580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12154976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17132731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17142976	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17143013	0.86[ASN][1000 genomes]
rs2107275	0.82[CEU][hapmap]
rs2189974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525710	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2721330	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2721332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2721344	0.86[ASN][1000 genomes]
rs2721346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2721348	0.86[ASN][1000 genomes]
rs2721360	0.86[ASN][1000 genomes]
rs2721371	0.86[ASN][1000 genomes]
rs3823861	0.91[CEU][hapmap]
rs41612	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41613	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41614	0.85[EUR][1000 genomes]
rs41616	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41617	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41619	0.84[EUR][1000 genomes]
rs41620	0.84[EUR][1000 genomes]
rs41622	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41623	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41624	0.91[CEU][hapmap]
rs41626	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41629	0.82[CEU][hapmap]
rs41632	0.91[CEU][hapmap]
rs42333	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730982	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55733320	0.93[ASN][1000 genomes]
rs55749650	0.82[ASN][1000 genomes]
rs56023697	0.86[ASN][1000 genomes]
rs56067931	0.93[ASN][1000 genomes]
rs61481874	0.86[ASN][1000 genomes]
rs67679138	0.93[ASN][1000 genomes]
rs73425871	0.85[ASN][1000 genomes]
rs73427871	0.86[ASN][1000 genomes]
rs73427873	0.86[ASN][1000 genomes]
rs73427878	0.86[ASN][1000 genomes]
rs73721472	0.87[ASN][1000 genomes]
rs7805733	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs886440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[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
rs114420	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120414000-120416400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:120414200-120415600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:120414200-120416000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:120414400-120416400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:120414600-120415200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:120414600-120416000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:120414800-120415800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:120414800-120421200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:120415000-120415600	Weak transcription	H9 Cell Line	embryonic stem cell

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