Variant report

Variant	rs12072488
Chromosome Location	chr1:75322810-75322811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11162088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096005	1.00[AMR][1000 genomes]
rs28385407	1.00[AMR][1000 genomes]
rs28801184	1.00[AMR][1000 genomes]
rs480165	1.00[AMR][1000 genomes]
rs486644	1.00[AMR][1000 genomes]
rs548924	1.00[AMR][1000 genomes]
rs549607	1.00[AMR][1000 genomes]
rs565749	1.00[AMR][1000 genomes]
rs569165	1.00[AMR][1000 genomes]
rs7529734	1.00[AMR][1000 genomes]
rs9783028	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:75322200-75324200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:75322800-75324400	Enhancers	GM12878-XiMat	blood

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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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