Variant report

Variant	rs1250679
Chromosome Location	chr12:63717210-63717211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1146110	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1146115	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1146116	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1146117	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1250671	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1250672	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1250675	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1250677	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1250680	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1251630	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1251764	0.84[ASN][1000 genomes]
rs1733692	0.82[ASN][1000 genomes]
rs477614	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs512936	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs517142	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs534886	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs699623	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs786853	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs786858	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786860	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs805033	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs812546	0.81[AMR][1000 genomes]
rs936147	0.87[AMR][1000 genomes];0.93[EUR][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	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63714000-63718800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63716400-63717600	Weak transcription	Dnd41	blood

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