Variant report

Variant	rs1029418
Chromosome Location	chr12:120071232-120071233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10732608	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744741	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10744742	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774507	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774509	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849685	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064855	0.81[ASN][1000 genomes]
rs11064856	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064858	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11064861	0.90[ASN][1000 genomes]
rs11064864	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1123790	0.82[ASN][1000 genomes]
rs1154836	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12708371	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1303904	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1319529	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858982	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078938	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2188711	0.82[ASN][1000 genomes]
rs2301653	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301654	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301655	0.82[ASN][1000 genomes]
rs2893805	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766944	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766945	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767834	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767835	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767836	0.82[ASN][1000 genomes]
rs6490260	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490261	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7138785	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310741	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7955441	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7957284	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7958547	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7959425	0.92[ASN][1000 genomes]
rs7965791	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978341	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7981024	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9668717	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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120059200-120083400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:120065400-120078400	Weak transcription	Right Atrium	heart
3	chr12:120068600-120082200	Weak transcription	HSMMtube	muscle
4	chr12:120070200-120076600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:120070400-120072400	Weak transcription	HSMM	muscle
6	chr12:120070400-120072800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:120070400-120073400	Weak transcription	Psoas Muscle	Psoas
8	chr12:120071000-120071400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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