Variant report

Variant	rs11065172
Chromosome Location	chr12:121056636-121056637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10774563	0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11065170	0.86[EUR][1000 genomes]
rs11065171	0.90[EUR][1000 genomes]
rs11831355	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12369169	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs553328	0.86[MEX][hapmap];0.81[TSI][hapmap]
rs7299238	1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73405665	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9804812	0.94[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11065172	COQ5	cis	parietal	SCAN
rs11065172	GPR81	cis	parietal	SCAN
rs11065172	TAOK3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121038000-121056800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:121056000-121057400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121056400-121056800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:121056400-121057400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:121056600-121056800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:121056600-121057600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:121056600-121058000	Enhancers	H1 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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