Variant report

Variant	rs12407160
Chromosome Location	chr1:194045892-194045893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10494694	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10494695	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11576452	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12402555	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731751	0.90[ASN][1000 genomes]
rs17550167	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17550564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17615197	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17615410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17615584	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615608	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615887	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119856	0.90[ASN][1000 genomes]
rs2119857	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2224700	0.90[ASN][1000 genomes]
rs34886976	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35224110	0.90[ASN][1000 genomes]
rs57802972	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6670107	0.90[ASN][1000 genomes]
rs74131275	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74131276	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74131282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74131287	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131290	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74131293	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74131294	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7511906	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7553854	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs958436	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs958437	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv872836	chr1:194032486-194130204	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194043800-194054000	Weak transcription	Fetal Heart	heart
2	chr1:194044400-194046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:194045000-194046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:194045800-194046400	Weak transcription	Colon Smooth Muscle	Colon

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