Variant report

Variant	rs2721339
Chromosome Location	chr7:120557947-120557948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120554091..120556706-chr7:120557513..120559992,2	K562	blood:
2	chr7:120557106..120558651-chr7:120584404..120586446,2	K562	blood:
3	chr7:120555523..120558185-chr7:120561718..120564428,2	K562	blood:

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

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

rs_ID	r²[population]
rs10225453	0.80[EUR][1000 genomes]
rs10252911	0.81[ASN][1000 genomes]
rs10257297	0.83[ASN][1000 genomes]
rs10257475	0.82[ASN][1000 genomes]
rs10274689	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10279837	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953922	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11982493	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1557857	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17142995	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1859318	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859319	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2040762	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2097806	0.85[AFR][1000 genomes]
rs2248890	0.82[AMR][1000 genomes]
rs2524949	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2524951	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525705	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525708	0.81[ASN][1000 genomes]
rs2525709	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525743	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721341	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721343	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721347	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2721354	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2721364	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823859	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61452531	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466759	0.83[EUR][1000 genomes]
rs6466760	0.82[EUR][1000 genomes]
rs6466761	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466762	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958947	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6959328	0.80[EUR][1000 genomes]
rs6964786	0.80[EUR][1000 genomes]
rs6979247	0.81[ASN][1000 genomes]
rs714259	0.90[EUR][1000 genomes]
rs732568	0.81[ASN][1000 genomes]
rs73427866	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73429803	0.82[ASN][1000 genomes]
rs745167	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7776721	0.82[ASN][1000 genomes]
rs7781985	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7805211	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9649429	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv437030	chr7:120550667-120562313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv438002	chr7:120556620-120559538	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2721339	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120556000-120567200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:120556600-120561600	Weak transcription	Fetal Heart	heart
3	chr7:120557800-120559200	Weak transcription	Fetal Muscle Leg	muscle

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