Variant report

Variant	rs4945162
Chromosome Location	chr11:76944049-76944050
allele	C/T
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: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10793244	0.87[EUR][1000 genomes]
rs10793245	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10793248	0.82[EUR][1000 genomes]
rs11237155	0.94[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11600983	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607378	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607775	0.83[AFR][1000 genomes]
rs11824060	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1670459	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs17160187	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1793476	0.83[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1793483	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1901821	0.86[CEU][hapmap]
rs2007466	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602465	0.90[JPT][hapmap]
rs2602472	0.83[JPT][hapmap]
rs2725812	0.81[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2729762	0.91[JPT][hapmap]
rs2844333	0.91[JPT][hapmap]
rs2853097	0.82[EUR][1000 genomes]
rs3015984	0.80[EUR][1000 genomes]
rs3019240	0.80[EUR][1000 genomes]
rs3019258	0.82[EUR][1000 genomes]
rs34420077	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4433591	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs473012	0.84[EUR][1000 genomes]
rs476925	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs478134	0.82[EUR][1000 genomes]
rs478475	0.82[EUR][1000 genomes]
rs482243	0.84[EUR][1000 genomes]
rs487322	0.84[EUR][1000 genomes]
rs489038	0.83[EUR][1000 genomes]
rs492527	0.82[EUR][1000 genomes]
rs4944153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944155	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944158	0.84[EUR][1000 genomes]
rs4945161	0.81[LWK][hapmap]
rs4945166	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945168	0.81[EUR][1000 genomes]
rs4945169	0.84[EUR][1000 genomes]
rs495889	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs497946	0.83[EUR][1000 genomes]
rs514191	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs517511	0.83[EUR][1000 genomes]
rs538670	0.82[EUR][1000 genomes]
rs539906	0.83[EUR][1000 genomes]
rs556696	0.82[EUR][1000 genomes]
rs561153	0.83[EUR][1000 genomes]
rs562939	0.83[EUR][1000 genomes]
rs568309	0.82[EUR][1000 genomes]
rs57129983	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs575662	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs576079	0.82[EUR][1000 genomes]
rs576997	0.82[EUR][1000 genomes]
rs584909	0.81[EUR][1000 genomes]
rs599437	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs605910	0.83[EUR][1000 genomes]
rs614775	0.82[EUR][1000 genomes]
rs61629638	0.83[AFR][1000 genomes]
rs61901769	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61901771	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61901802	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs628325	0.82[EUR][1000 genomes]
rs635291	0.83[EUR][1000 genomes]
rs639857	0.82[EUR][1000 genomes]
rs6592714	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6592715	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs667331	0.82[EUR][1000 genomes]
rs674652	0.95[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs67721066	0.87[AFR][1000 genomes]
rs683497	0.83[EUR][1000 genomes]
rs688212	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs7104577	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs7118869	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7928731	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936156	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs883223	1.00[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs948971	0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs98703	0.81[EUR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4945162	AQP11	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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