Variant report

Variant	rs72988538
Chromosome Location	chr1:76524660-76524661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11800149	1.00[AFR][1000 genomes]
rs17097903	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17097930	0.85[AMR][1000 genomes]
rs17097987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097991	0.85[AMR][1000 genomes]
rs17098000	0.85[AMR][1000 genomes]
rs56157193	0.84[AFR][1000 genomes]
rs56320696	0.88[AFR][1000 genomes]
rs59469604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61287523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986699	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091550	0.83[AMR][1000 genomes]
rs74091558	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535776	0.90[AFR][1000 genomes]
rs7536525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545248	0.85[AMR][1000 genomes]
rs7545733	0.90[AFR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1477	chr1:76515963-76534339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76519400-76524800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76519600-76524800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:76521800-76524800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76521800-76531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76524400-76526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:76524600-76525000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:76524600-76526000	Enhancers	Brain Substantia Nigra	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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