Variant report

Variant	rs4942950
Chromosome Location	chr13:51685633-51685634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1328359	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408332	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6561612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563025	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568519	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568523	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568529	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs957434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4942950	GUCY1B2	cis	Skin Sun Exposed Lower leg	GTEx
rs4942950	GUCY1B2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51672600-51687200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:51672800-51692400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:51676200-51695200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:51685200-51691000	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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