Variant report

Variant	rs11168351
Chromosome Location	chr12:48403765-48403766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48394829..48397203-chr12:48403090..48404738,2	MCF-7	breast:
2	chr12:48401338..48404101-chr12:48405666..48408506,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10875716	1.00[ASW][hapmap];0.92[CEU][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs10875718	0.84[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10875719	0.84[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10875721	0.93[EUR][1000 genomes]
rs10875743	0.88[CEU][hapmap]
rs10875749	0.81[CEU][hapmap]
rs10875753	0.81[CEU][hapmap]
rs11168338	0.88[TSI][hapmap]
rs11168343	0.86[EUR][1000 genomes]
rs11168408	0.88[CEU][hapmap]
rs11168428	0.81[CEU][hapmap]
rs11168437	0.82[ASW][hapmap]
rs12228750	0.88[CEU][hapmap]
rs12368659	0.81[CEU][hapmap]
rs12579815	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12580309	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12581263	0.93[ASN][1000 genomes]
rs12811832	0.84[TSI][hapmap]
rs12816820	0.81[CEU][hapmap]
rs12817104	0.87[EUR][1000 genomes]
rs12819124	0.89[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1476607	0.82[ASW][hapmap];0.81[CEU][hapmap]
rs17122615	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17122617	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2051851	0.88[CEU][hapmap]
rs3997	0.88[CEU][hapmap]
rs41272785	0.84[ASN][1000 genomes]
rs41369448	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4760612	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs4760679	0.88[CEU][hapmap]
rs60275794	0.91[ASN][1000 genomes]
rs6580650	0.88[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs6580652	0.88[EUR][1000 genomes]
rs7301003	0.81[CEU][hapmap]
rs7971880	0.84[ASW][hapmap];0.92[CEU][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs7975632	0.82[ASW][hapmap];0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs8716	0.81[CEU][hapmap]
rs915920	0.88[CHB][hapmap]
rs973398	0.88[CEU][hapmap]

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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder and schizophrenia	20889312	GWAS catalog

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11168351	TMEM131	trans	parietal	SCAN
rs11168351	PFKM	cis	temporal cortex	BrainEAC
rs11168351	OR6C70	trans	parietal	SCAN
rs11168351	PFKM	cis	brain	BrainEAC
rs11168351	C12orf68	cis	parietal	SCAN
rs11168351	RPAP3	cis	cerebellum	SCAN
rs11168351	PFKM	cis	frontal cortex	BrainEAC
rs11168351	PFKM	cis	cerebellar cortex	BrainEAC
rs11168351	H1FNT	cis	Muscle Skeletal	GTEx
rs11168351	PFKM	cis	occipital cortex	BrainEAC
rs11168351	CCNT1	cis	cerebellum	SCAN
rs11168351	PFKM	cis	putamen	BrainEAC
rs11168351	PRPF40B	cis	parietal	SCAN
rs11168351	PFKM	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48403000-48410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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