Variant report

Variant	rs1107023
Chromosome Location	chr12:63755339-63755340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63743207..63745868-chr12:63754623..63756737,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10219539	0.83[AFR][1000 genomes]
rs10437962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11174929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11174945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11174959	0.87[AFR][1000 genomes]
rs12297735	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299909	0.94[AFR][1000 genomes]
rs12300423	1.00[AMR][1000 genomes]
rs12305453	1.00[AMR][1000 genomes]
rs12309887	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311676	0.85[AFR][1000 genomes]
rs12318068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1303183	1.00[AMR][1000 genomes]
rs3929414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478074	1.00[AMR][1000 genomes]
rs511720	1.00[AMR][1000 genomes]
rs74097349	0.90[AFR][1000 genomes]
rs7954967	1.00[AMR][1000 genomes]
rs7957105	0.90[AFR][1000 genomes]
rs7979930	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044694	chr12:63746069-63920831	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63753600-63755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63754400-63755400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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