Variant report

Variant	rs4831130
Chromosome Location	chr3:116039842-116039843
allele	G/T
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]
rs10804523	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs1835674	0.84[YRI][hapmap]
rs1920184	0.80[CEU][hapmap]
rs1920190	0.80[CEU][hapmap]
rs1920191	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4831131	0.80[CEU][hapmap]
rs6810089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9823782	0.80[CEU][hapmap]
rs9845707	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9870357	0.80[CEU][hapmap]

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	nsv877361	chr3:116017931-116138039	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4831130	STXBP5L	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116032600-116040000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:116036200-116041400	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:116038400-116048400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:116038600-116041000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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