Variant report

Variant	rs72676875
Chromosome Location	chr1:70453906-70453907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12060100	0.90[EUR][1000 genomes]
rs12062605	0.95[EUR][1000 genomes]
rs12066962	0.95[EUR][1000 genomes]
rs12088269	0.90[EUR][1000 genomes]
rs17131125	0.95[EUR][1000 genomes]
rs56278841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58574417	0.90[EUR][1000 genomes]
rs66724614	0.95[EUR][1000 genomes]
rs67032718	0.95[EUR][1000 genomes]
rs72676811	1.00[AFR][1000 genomes]
rs72676873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72676880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv871018	chr1:70450024-70496379	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70440600-70456600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70446200-70455400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:70448600-70456600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:70450800-70481200	Weak transcription	Fetal Brain Female	brain
5	chr1:70453000-70454600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:70453800-70454600	Enhancers	Primary hematopoietic stem cells short term culture	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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