Variant report

Variant	rs17392197
Chromosome Location	chr2:125324525-125324526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10445856	1.00[CHB][hapmap]
rs10445857	1.00[CHB][hapmap]
rs11123042	1.00[CHB][hapmap]
rs11689115	1.00[CHB][hapmap]
rs11888989	1.00[CHB][hapmap]
rs11899245	1.00[CHB][hapmap]
rs12373656	1.00[CHB][hapmap]
rs13020806	1.00[CHB][hapmap]
rs1304052	1.00[CHB][hapmap]
rs1394144	1.00[CHB][hapmap]
rs1394145	1.00[CHB][hapmap]
rs1503997	1.00[CHB][hapmap]
rs1504000	1.00[CHB][hapmap]
rs1574504	1.00[CHB][hapmap]
rs17320237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17392863	1.00[ASN][1000 genomes]
rs17725595	1.00[CHB][hapmap]
rs17725619	1.00[CHB][hapmap]
rs1827596	1.00[CHB][hapmap]
rs1847429	1.00[CHB][hapmap]
rs2003039	1.00[CHB][hapmap]
rs4555349	1.00[CHB][hapmap]
rs4848936	1.00[CHB][hapmap]
rs59694583	1.00[ASN][1000 genomes]
rs6541957	1.00[CHB][hapmap]
rs6541961	1.00[CHB][hapmap]
rs6708079	1.00[CHB][hapmap]
rs869760	1.00[CHB][hapmap]
rs905630	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17392197	PGBD1	trans	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125321600-125345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125323600-125325200	Enhancers	Liver	Liver
3	chr2:125323600-125326000	Enhancers	HepG2	liver

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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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