Variant report

Variant	rs72934498
Chromosome Location	chr1:70038050-70038051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34176344	1.00[AMR][1000 genomes]
rs57703717	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58099669	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58877660	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59878053	1.00[AMR][1000 genomes]
rs60213737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934430	1.00[AMR][1000 genomes]
rs72934431	1.00[AMR][1000 genomes]
rs72934438	1.00[AMR][1000 genomes]
rs72934441	1.00[AMR][1000 genomes]
rs72934459	1.00[AMR][1000 genomes]
rs72934502	1.00[AFR][1000 genomes]
rs72936507	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936533	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936588	1.00[AFR][1000 genomes]
rs72936595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938953	1.00[AMR][1000 genomes]
rs72938959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947267	chr1:70037153-70040397	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70032200-70038400	Active TSS	Brain Anterior Caudate	brain
2	chr1:70035600-70039000	Weak transcription	Left Ventricle	heart
3	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
4	chr1:70035800-70038400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:70036600-70038600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:70036600-70038800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:70036800-70038600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:70037000-70038800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:70037000-70040600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:70037400-70038400	Active TSS	Fetal Brain Female	brain
11	chr1:70037800-70042400	Enhancers	Fetal Brain Male	brain

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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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