Variant report

Variant	rs4237917
Chromosome Location	chr12:22186118-22186119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10770879	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046278	1.00[AMR][1000 genomes]
rs11046283	1.00[AMR][1000 genomes]
rs11046284	1.00[AMR][1000 genomes]
rs11046285	1.00[AMR][1000 genomes]
rs11046286	1.00[AMR][1000 genomes]
rs11046287	1.00[AMR][1000 genomes]
rs11046288	1.00[AMR][1000 genomes]
rs12296561	1.00[AMR][1000 genomes]
rs12297555	1.00[AMR][1000 genomes]
rs12302161	1.00[AMR][1000 genomes]
rs12302990	1.00[AMR][1000 genomes]
rs12306240	1.00[AMR][1000 genomes]
rs12307136	1.00[AMR][1000 genomes]
rs12309596	1.00[AMR][1000 genomes]
rs12315697	1.00[AMR][1000 genomes]
rs12318153	1.00[AMR][1000 genomes]
rs1861713	1.00[AMR][1000 genomes]
rs4326848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57275562	1.00[AMR][1000 genomes]
rs57886357	1.00[AMR][1000 genomes]
rs7314865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265986	1.00[AMR][1000 genomes]
rs73265990	1.00[AMR][1000 genomes]
rs73265997	1.00[AMR][1000 genomes]
rs73266000	1.00[AMR][1000 genomes]
rs73267912	1.00[AMR][1000 genomes]
rs73267999	1.00[AMR][1000 genomes]
rs7961937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973525	1.00[AMR][1000 genomes]
rs7977201	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9788008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv3366634	chr12:22183235-22188233	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3427866	chr12:22185635-22188083	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3338558	chr12:22186035-22187833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22183600-22187000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:22184600-22188000	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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