Variant report

Variant	rs17550821
Chromosome Location	chr2:58978523-58978524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17550194	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17550487	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17550550	0.84[EUR][1000 genomes]
rs17551326	0.81[AFR][1000 genomes]
rs17615638	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1922783	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35026255	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60888271	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs993531	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs993532	0.85[AMR][1000 genomes];0.84[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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17550821	SPTBN1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58977400-58978600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:58978400-58980400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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