Variant report

Variant	rs739422
Chromosome Location	chr12:120042506-120042507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10774503	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774508	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10849675	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849676	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849680	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064844	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064845	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064846	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11064847	0.88[EUR][1000 genomes]
rs11064850	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1109855	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1109857	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306215	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985743	0.82[EUR][1000 genomes]
rs2393522	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2393523	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2393524	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34500179	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6490259	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138221	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7138756	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7301592	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304294	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310148	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310536	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7311445	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7311779	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312321	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955119	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7963332	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972445	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7973772	0.84[EUR][1000 genomes]
rs7978755	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120034600-120048200	Weak transcription	HSMMtube	muscle
2	chr12:120036600-120046000	Weak transcription	HSMM	muscle
3	chr12:120036600-120049000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:120040200-120042600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:120042000-120044600	Weak transcription	Psoas Muscle	Psoas
6	chr12:120042400-120051400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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