Variant report

Variant	rs7138221
Chromosome Location	chr12:120056478-120056479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10774503	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10774508	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849675	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10849676	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10849680	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11064845	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11064846	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11064847	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064849	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064850	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109855	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1109857	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12306215	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1985743	0.90[EUR][1000 genomes]
rs2393522	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393523	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393524	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34500179	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490259	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7138756	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7304294	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7310148	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7310536	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7311445	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7311779	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7312321	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs739421	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs739422	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7952841	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955119	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963332	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7972445	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973772	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978755	0.90[AMR][1000 genomes];0.99[EUR][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	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
2	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
3	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120048600-120059600	Weak transcription	HSMMtube	muscle
2	chr12:120053800-120058400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:120054000-120059400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120054400-120059400	Weak transcription	HSMM	muscle
5	chr12:120055400-120056800	Enhancers	Psoas Muscle	Psoas
6	chr12:120055800-120056800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:120056400-120064400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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