Variant report

Variant	rs9951752
Chromosome Location	chr18:11748216-11748217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr18:11748138-11748273	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11746215..11748757-chr18:11849880..11852912,3	K562	blood:

Variant related genes	Relation type
GNAL	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005270	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11873821	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16976627	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs16976632	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1895689	0.80[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2052660	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2052661	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2113738	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2113739	0.85[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs28415243	0.98[ASN][1000 genomes]
rs2866279	0.80[CEU][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58518871	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6505671	0.90[ASN][1000 genomes]
rs6505674	0.83[ASN][1000 genomes]
rs7227416	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7233178	0.82[ASN][1000 genomes]
rs7359728	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087001	0.96[ASN][1000 genomes]
rs8090628	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs8091359	0.88[JPT][hapmap]
rs8095592	0.80[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9949045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954406	0.90[ASN][1000 genomes]
rs9957006	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9957311	0.90[ASN][1000 genomes]

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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9951752	TUBB6	cis	parietal	SCAN
rs9951752	C18orf1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11743000-11749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11743200-11749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:11747600-11751200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11748000-11750400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:11748200-11748400	Enhancers	Fetal Brain Female	brain

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