Variant report

Variant	rs2721347
Chromosome Location	chr7:120513879-120513880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120496297..120499489-chr7:120513348..120516130,3	K562	blood:
2	chr7:120496236..120498616-chr7:120513619..120515200,2	MCF-7	breast:
3	chr7:120512345..120514734-chr7:120515896..120518149,2	K562	blood:

Variant related genes	Relation type
ENSG00000106025	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10225453	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10252911	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs10257297	0.83[ASN][1000 genomes]
rs10257475	0.85[ASN][1000 genomes]
rs10266755	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10272601	0.82[JPT][hapmap]
rs10274689	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953922	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11982493	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669167	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13231854	0.85[ASN][1000 genomes]
rs1557857	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17142995	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17143001	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17143009	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1859316	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1859318	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859319	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2040762	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2097806	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap]
rs2107275	0.85[ASN][1000 genomes]
rs2107276	0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2248890	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2524949	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2524951	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525705	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]
rs2525709	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2525743	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721330	0.80[CEU][hapmap]
rs2721332	0.85[CEU][hapmap]
rs2721339	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2721341	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2721346	0.84[CEU][hapmap]
rs2721354	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2721364	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735467	0.85[ASN][1000 genomes]
rs3757556	0.82[JPT][hapmap]
rs3779386	0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs3814460	0.89[ASN][1000 genomes]
rs3823859	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823861	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41621	0.83[ASN][1000 genomes]
rs41624	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs41627	0.83[ASN][1000 genomes]
rs41628	0.83[ASN][1000 genomes]
rs41629	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs41632	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4445165	0.84[ASN][1000 genomes]
rs55855220	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61452531	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466759	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466760	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466761	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466762	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6953454	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958947	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6959328	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964344	0.81[JPT][hapmap]
rs6964667	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6964786	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971854	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs6979247	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs714259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73427805	0.85[ASN][1000 genomes]
rs73427862	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73427866	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73429803	0.85[ASN][1000 genomes]
rs745167	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7776721	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7781985	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800318	0.84[ASN][1000 genomes]
rs7805211	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7810542	0.80[CEU][hapmap]
rs9649429	0.85[ASN][1000 genomes]
rs996903	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[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
rs2721347	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120508600-120518200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:120512000-120521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:120512600-120515200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:120512800-120514200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:120513200-120514000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120513200-120514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:120513200-120514400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:120513800-120514400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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