Variant report

Variant	rs56242250
Chromosome Location	chr5:43883820-43883821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10050537	0.88[EUR][1000 genomes]
rs13166767	0.96[AFR][1000 genomes]
rs13185925	0.84[AFR][1000 genomes]
rs13359520	0.88[EUR][1000 genomes]
rs56286610	1.00[EUR][1000 genomes]
rs56407158	0.97[EUR][1000 genomes]
rs59447348	0.88[EUR][1000 genomes]
rs72762320	0.97[EUR][1000 genomes]
rs72762321	1.00[EUR][1000 genomes]
rs72762323	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72762325	1.00[EUR][1000 genomes]
rs72762385	0.97[EUR][1000 genomes]
rs72762387	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7703953	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723677	0.88[EUR][1000 genomes]
rs7728182	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7732326	0.88[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	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv965549	chr5:43877737-43886194	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56242250	NNT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43879600-43885200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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