Variant report

Variant	rs11068338
Chromosome Location	chr12:117542107-117542108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10850759	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10850761	0.80[ASN][1000 genomes]
rs3736417	0.84[ASN][1000 genomes]
rs7297162	0.84[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11068338	RPH3A	cis	cerebellum	SCAN
rs11068338	TBX3	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
2	chr12:117537800-117543200	Weak transcription	Dnd41	blood
3	chr12:117538800-117549200	Weak transcription	Pancreas	Pancrea
4	chr12:117540000-117548200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:117540400-117543400	Weak transcription	Fetal Thymus	thymus
6	chr12:117540400-117548200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:117540800-117549200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:117542000-117542800	Bivalent Enhancer	HepG2	liver

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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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