Variant report

Variant	rs4420597
Chromosome Location	chr18:8875541-8875542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17408774	0.90[EUR][1000 genomes]
rs4133048	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797335	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4797336	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4797337	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4797338	0.95[EUR][1000 genomes]
rs4798698	0.88[AMR][1000 genomes]
rs4798699	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798702	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798711	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798712	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798713	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798714	0.95[EUR][1000 genomes]
rs4798715	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8869000-8878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:8873000-8876800	Weak transcription	Fetal Brain Male	brain
3	chr18:8875200-8875800	Enhancers	K562	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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