Variant report

Variant	rs62050805
Chromosome Location	chr16:80143411-80143412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514482	0.90[EUR][1000 genomes]
rs16952369	0.91[EUR][1000 genomes]
rs16952436	0.90[EUR][1000 genomes]
rs4888070	0.91[EUR][1000 genomes]
rs4888072	0.88[EUR][1000 genomes]
rs62049488	0.92[EUR][1000 genomes]
rs62050791	0.81[EUR][1000 genomes]
rs62050804	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62050806	0.97[EUR][1000 genomes]
rs62050837	0.97[EUR][1000 genomes]
rs62050841	0.95[EUR][1000 genomes]
rs62050845	0.97[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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:80140200-80151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:80142600-80145800	Weak transcription	NHEK	skin
4	chr16:80143000-80148000	Weak transcription	HMEC	breast
5	chr16:80143200-80143600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:80143400-80144200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:80143400-80151000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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