Variant report

Variant	rs2525705
Chromosome Location	chr7:120569027-120569028
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120567322..120569068-chr7:120589600..120592283,2	MCF-7	breast:
2	chr7:120547850..120549898-chr7:120568115..120570216,2	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:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10238554	0.89[ASN][1000 genomes]
rs10252911	0.87[ASN][1000 genomes]
rs10257297	0.83[ASN][1000 genomes]
rs10257475	0.82[ASN][1000 genomes]
rs10261886	0.80[ASN][1000 genomes]
rs10272601	0.83[ASN][1000 genomes]
rs10274689	0.83[ASN][1000 genomes]
rs10279837	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10282072	0.89[ASN][1000 genomes]
rs10953922	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11976580	0.83[CEU][hapmap]
rs11982493	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13438082	0.80[ASN][1000 genomes]
rs1557857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132731	0.83[CEU][hapmap]
rs17142995	0.84[ASN][1000 genomes]
rs17143055	0.80[ASN][1000 genomes]
rs1859316	0.89[ASN][1000 genomes]
rs1859318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859319	0.90[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040762	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074577	0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2097806	0.90[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2244863	0.82[ASN][1000 genomes]
rs2244865	0.82[ASN][1000 genomes]
rs2248890	0.90[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2524949	0.86[EUR][1000 genomes]
rs2524951	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525708	0.87[ASN][1000 genomes]
rs2525709	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2525710	1.00[CEU][hapmap]
rs2525712	0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2525713	0.82[ASN][1000 genomes]
rs2525719	0.82[ASN][1000 genomes]
rs2525730	0.82[ASN][1000 genomes]
rs2525737	0.82[ASN][1000 genomes]
rs2525743	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2721330	1.00[CEU][hapmap]
rs2721332	0.94[CEU][hapmap]
rs2721339	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721341	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2721343	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2721346	0.94[CEU][hapmap]
rs2721347	0.84[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2721354	0.90[CEU][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721363	0.82[ASN][1000 genomes]
rs2721364	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2721365	0.82[ASN][1000 genomes]
rs2721367	0.82[ASN][1000 genomes]
rs2721372	0.82[ASN][1000 genomes]
rs3757556	0.83[ASN][1000 genomes]
rs3823859	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41690	0.82[ASN][1000 genomes]
rs4461820	0.80[ASN][1000 genomes]
rs61452531	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466762	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6958947	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964344	0.83[ASN][1000 genomes]
rs6975372	0.80[ASN][1000 genomes]
rs6979247	0.81[ASN][1000 genomes]
rs714259	0.84[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs732568	0.87[ASN][1000 genomes]
rs73427866	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73429803	0.82[ASN][1000 genomes]
rs745167	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7776721	0.82[ASN][1000 genomes]
rs7781985	0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs886440	0.83[CEU][hapmap]
rs9649429	0.82[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
rs2525705	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120568000-120569200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:120568800-120569800	Enhancers	HUVEC	blood vessel

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