Variant report

Variant	rs2952280
Chromosome Location	chr17:66478633-66478634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11868680	0.83[CHB][hapmap]
rs12451558	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2111508	0.81[EUR][1000 genomes]
rs2361953	0.89[ASN][1000 genomes]
rs2909217	0.80[EUR][1000 genomes]
rs2909218	0.83[CHB][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs2909220	0.83[EUR][1000 genomes]
rs2909221	0.83[EUR][1000 genomes]
rs2952277	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952279	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952283	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952284	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952286	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2952289	0.83[CHB][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs4968898	0.86[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs8069148	0.85[AMR][1000 genomes];0.80[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2952280	PRKAR1A	cis	multi-tissue	Pritchard
rs2952280	STRADA	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66467800-66487000	Weak transcription	Right Atrium	heart
2	chr17:66477000-66480200	Enhancers	HepG2	liver
3	chr17:66477400-66483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:66477600-66479200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:66478000-66479600	Enhancers	Ovary	ovary
6	chr17:66478200-66484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:66478400-66487600	Weak transcription	Gastric	stomach

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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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