Variant report

Variant	rs2721364
Chromosome Location	chr7:120532821-120532822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120531641..120534094-chr7:120717673..120720325,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10225453	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10238554	0.83[ASN][1000 genomes]
rs10252911	0.90[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10257297	0.89[ASN][1000 genomes]
rs10257475	0.90[ASN][1000 genomes]
rs10266755	0.82[ASW][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs10272601	0.81[JPT][hapmap]
rs10274689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10279837	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10282072	0.83[ASN][1000 genomes]
rs10953922	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953923	0.80[ASW][hapmap]
rs11982493	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12669167	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1557857	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17142995	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17143001	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs17143009	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs1859316	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1859318	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1859319	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040762	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058501	0.80[ASW][hapmap];0.83[LWK][hapmap]
rs2074577	0.86[ASW][hapmap];0.86[CHD][hapmap];0.87[LWK][hapmap]
rs2097806	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs2107276	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2244863	0.86[ASW][hapmap];0.86[CHD][hapmap]
rs2248890	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2524949	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2524951	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525705	0.84[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525708	0.84[ASN][1000 genomes]
rs2525709	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525743	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721332	0.85[CEU][hapmap]
rs2721339	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2721341	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721343	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2721346	0.84[CEU][hapmap]
rs2721347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2721354	0.93[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2721363	0.86[ASW][hapmap]
rs3757556	0.81[JPT][hapmap]
rs3757557	0.83[CHD][hapmap]
rs3779386	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs3814460	0.83[ASN][1000 genomes]
rs3823859	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3823861	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs4141309	0.83[CHD][hapmap]
rs41624	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs41629	0.82[ASW][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs41632	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs41690	0.86[ASW][hapmap];0.86[CHD][hapmap]
rs55855220	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61452531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466759	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6466760	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6466761	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6466762	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6944789	0.80[ASW][hapmap];0.83[LWK][hapmap]
rs6953454	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6958947	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6959328	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6964344	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs6964667	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6964786	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6971854	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs6979247	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs714259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732568	0.84[ASN][1000 genomes]
rs73427866	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73429803	0.90[ASN][1000 genomes]
rs745167	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7776721	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7781985	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7805211	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9649429	0.90[ASN][1000 genomes]
rs996903	0.93[ASW][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv274964	chr7:120522471-120549440	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2721364	TRIM38	trans	cerebellum	SCAN
rs2721364	TSPAN12	cis	parietal	SCAN
rs2721364	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120531200-120536600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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