Variant report

Variant	rs17339969
Chromosome Location	chr5:94387872-94387873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62364704	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756469	chr5:94323268-94400017	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17339969	C5orf27	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94376200-94405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94385000-94393200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:94385000-94398200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:94385200-94395400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:94385400-94393200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:94385600-94404200	Weak transcription	HUVEC	blood vessel
7	chr5:94386200-94388400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:94386600-94395000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:94386800-94393200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:94387600-94395200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:94387800-94388400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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