Variant report

Variant	rs4945161
Chromosome Location	chr11:76944015-76944016
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	chr11:76940055..76942295-chr11:76942688..76945591,2	K562	blood:
2	chr11:76940055..76942991-chr11:76943118..76946420,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10899366	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10899367	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs11237141	0.81[EUR][1000 genomes]
rs11237142	0.80[EUR][1000 genomes]
rs11607775	0.87[AFR][1000 genomes]
rs12361757	0.83[EUR][1000 genomes]
rs12363842	0.81[EUR][1000 genomes]
rs12366261	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12794253	0.81[EUR][1000 genomes]
rs1670445	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1670449	0.81[EUR][1000 genomes]
rs1670455	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1670462	0.85[CEU][hapmap]
rs17824184	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2156863	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2602471	0.82[JPT][hapmap]
rs2602473	0.82[JPT][hapmap]
rs2602474	0.82[JPT][hapmap]
rs2602475	0.82[JPT][hapmap]
rs2602480	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2725829	0.82[JPT][hapmap]
rs2729756	0.81[JPT][hapmap]
rs2729758	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2729772	0.94[JPT][hapmap]
rs2844327	0.82[JPT][hapmap]
rs2852388	0.82[JPT][hapmap]
rs2852390	0.82[JPT][hapmap]
rs2853085	0.82[JPT][hapmap]
rs2853094	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2853095	0.82[JPT][hapmap]
rs2888377	0.81[JPT][hapmap]
rs4945162	0.81[LWK][hapmap]
rs503406	0.95[CHB][hapmap]
rs66518011	0.82[EUR][1000 genomes]
rs66540426	0.83[EUR][1000 genomes]
rs67721066	0.80[AFR][1000 genomes]
rs876319	0.82[JPT][hapmap]
rs883680	0.88[EUR][1000 genomes]
rs9634030	0.81[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4945161	PAK1	cis	parietal	SCAN
rs4945161	KCTD14	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76937400-76948000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:76937600-76944200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:76942000-76944600	Weak transcription	Stomach Mucosa	stomach
4	chr11:76942800-76947600	Weak transcription	Liver	Liver
5	chr11:76944000-76944200	Enhancers	Pancreas	Pancrea

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