Variant report

Variant	rs72945048
Chromosome Location	chr1:79769567-79769568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11162665	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11162689	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11162690	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066657	1.00[AMR][1000 genomes]
rs12073676	1.00[AMR][1000 genomes]
rs12073877	1.00[AMR][1000 genomes]
rs12081771	1.00[AMR][1000 genomes]
rs12084133	1.00[AMR][1000 genomes]
rs12090579	1.00[AMR][1000 genomes]
rs12094970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17098591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102959	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102960	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102961	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102971	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57440705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58229074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59133072	1.00[AMR][1000 genomes]
rs72941388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943069	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945074	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9943263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv870962	chr1:79755185-79835066	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79762800-79769800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:79767200-79770800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:79768600-79770000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:79769200-79769600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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