Variant report

Variant	rs11068568
Chromosome Location	chr12:118042672-118042673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12422920	0.86[EUR][1000 genomes]
rs12425446	0.93[EUR][1000 genomes]
rs2650170	1.00[CEU][hapmap];0.92[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs4767577	0.93[AFR][1000 genomes];0.89[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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11068568	PTPN11	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118037200-118044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:118038400-118045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:118042000-118044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:118042200-118044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:118042200-118045000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:118042400-118045000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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