Variant report

Variant	rs12039243
Chromosome Location	chr1:79678145-79678146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489649	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11162657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023913	1.00[JPT][hapmap]
rs12024442	0.81[EUR][1000 genomes]
rs12024949	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12025007	0.82[ASN][1000 genomes]
rs12025146	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12025643	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12026006	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12026857	1.00[AFR][1000 genomes]
rs12026909	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12026969	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12028115	0.82[ASN][1000 genomes]
rs12028685	1.00[AFR][1000 genomes]
rs12031186	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12033889	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12035431	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12038491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039920	1.00[AFR][1000 genomes]
rs12040033	1.00[AFR][1000 genomes]
rs12044503	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12046684	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12046976	0.82[ASN][1000 genomes]
rs12048398	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12049507	1.00[AFR][1000 genomes]
rs12077125	1.00[JPT][hapmap]
rs12088382	0.81[EUR][1000 genomes]
rs1331715	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5003964	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72941396	0.82[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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79665200-79682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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