Variant report

Variant	rs2721329
Chromosome Location	chr7:120569874-120569875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120547850..120549898-chr7:120568115..120570216,2	K562	blood:
2	chr7:120569435..120571629-chr7:120578727..120581601,3	K562	blood:
3	chr7:120568902..120571112-chr7:120578727..120581601,3	K562	blood:
4	chr7:120566255..120567870-chr7:120568141..120570899,2	MCF-7	breast:
5	chr7:120564595..120568185-chr7:120568681..120572482,3	K562	blood:
6	chr7:120569011..120571140-chr7:120572533..120574457,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11976580	0.84[CEU][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673417	0.81[ASN][1000 genomes]
rs17132731	0.84[CEU][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17142976	0.81[ASN][1000 genomes]
rs17143013	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1859319	0.86[CEU][hapmap]
rs2097806	0.86[CEU][hapmap]
rs2248890	0.86[CEU][hapmap]
rs2525705	1.00[CEU][hapmap]
rs2525706	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525710	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721330	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721332	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721341	0.85[CEU][hapmap]
rs2721344	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721346	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721347	0.80[CEU][hapmap]
rs2721348	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721354	0.85[CEU][hapmap]
rs2721360	0.87[ASN][1000 genomes]
rs2721371	0.87[ASN][1000 genomes]
rs41613	0.81[ASN][1000 genomes]
rs41616	0.81[ASN][1000 genomes]
rs41617	0.81[ASN][1000 genomes]
rs41622	0.81[ASN][1000 genomes]
rs41623	0.81[ASN][1000 genomes]
rs41626	0.81[ASN][1000 genomes]
rs42333	0.81[ASN][1000 genomes]
rs4730982	0.81[ASN][1000 genomes]
rs55733320	0.81[ASN][1000 genomes]
rs56023697	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56067931	0.81[ASN][1000 genomes]
rs61481874	0.87[ASN][1000 genomes]
rs67679138	0.81[ASN][1000 genomes]
rs73427871	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427873	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427878	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805733	0.81[ASN][1000 genomes]
rs7810542	0.81[ASN][1000 genomes]
rs886440	0.84[CEU][hapmap];0.81[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
rs2721329	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120569200-120570200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr7:120569800-120570200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:120569800-120570200	Weak transcription	HUVEC	blood vessel

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