Variant report

Variant	rs959343
Chromosome Location	chr11:93741612-93741613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93741108..93743362-chr11:93748550..93751276,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1032934	0.81[JPT][hapmap]
rs10501811	0.87[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap]
rs10501813	0.82[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs11020587	0.81[JPT][hapmap]
rs11820915	0.83[EUR][1000 genomes]
rs11823303	0.85[EUR][1000 genomes]
rs11825709	0.91[ASN][1000 genomes]
rs11825763	0.87[CEU][hapmap]
rs11828737	0.83[EUR][1000 genomes]
rs1401184	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1518560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1518565	0.82[EUR][1000 genomes]
rs1518566	0.82[EUR][1000 genomes]
rs1568259	0.83[EUR][1000 genomes]
rs1589166	0.96[ASN][1000 genomes]
rs1607401	0.96[ASN][1000 genomes]
rs16919810	0.85[EUR][1000 genomes]
rs16919815	0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs16919858	0.81[EUR][1000 genomes]
rs1850656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894165	0.96[ASN][1000 genomes]
rs1894166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914723	0.83[EUR][1000 genomes]
rs1945786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1945787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2020351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102857	0.96[ASN][1000 genomes]
rs2139089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2176563	0.96[ASN][1000 genomes]
rs2203793	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2213108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2213110	0.94[ASN][1000 genomes]
rs2399749	0.83[EUR][1000 genomes]
rs2399750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2456556	0.89[EUR][1000 genomes]
rs2460049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2460050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460053	0.96[ASN][1000 genomes]
rs2460064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460065	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2460069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460070	0.96[ASN][1000 genomes]
rs2462733	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2462735	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2462756	0.95[ASN][1000 genomes]
rs2462757	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2462758	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2462759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2462760	0.94[ASN][1000 genomes]
rs2462763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511381	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511411	0.96[ASN][1000 genomes]
rs4415716	0.83[EUR][1000 genomes]
rs56355412	0.83[EUR][1000 genomes]
rs56938392	0.94[ASN][1000 genomes]
rs57106172	0.91[ASN][1000 genomes]
rs57586533	0.91[ASN][1000 genomes]
rs57953549	0.85[ASN][1000 genomes]
rs59689949	0.91[ASN][1000 genomes]
rs59793398	0.94[ASN][1000 genomes]
rs66514329	0.96[ASN][1000 genomes]
rs66523751	0.83[ASN][1000 genomes]
rs66538341	0.91[ASN][1000 genomes]
rs66977226	0.91[ASN][1000 genomes]
rs67001808	0.94[ASN][1000 genomes]
rs67243356	0.91[ASN][1000 genomes]
rs67412659	0.94[ASN][1000 genomes]
rs67988338	0.91[ASN][1000 genomes]
rs7107851	0.85[EUR][1000 genomes]
rs72964631	0.94[ASN][1000 genomes]
rs72964645	0.94[ASN][1000 genomes]
rs72964666	0.96[ASN][1000 genomes]
rs72964672	0.81[EUR][1000 genomes]
rs72964674	0.83[EUR][1000 genomes]
rs72964683	0.83[EUR][1000 genomes]
rs72964690	0.83[EUR][1000 genomes]
rs72964693	0.83[EUR][1000 genomes]
rs72966608	0.85[EUR][1000 genomes]
rs72966612	0.83[EUR][1000 genomes]
rs72966637	0.85[EUR][1000 genomes]
rs73551180	0.83[ASN][1000 genomes]
rs73564796	0.94[ASN][1000 genomes]
rs73564799	0.94[ASN][1000 genomes]
rs959342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978777	0.95[ASN][1000 genomes]
rs989088	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv555965	chr11:93713911-93747735	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs959343	PANX1	cis	parietal	SCAN
rs959343	GPR83	cis	cerebellum	SCAN
rs959343	MRE11A	cis	parietal	SCAN
rs959343	HEPHL1	cis	Artery Aorta	GTEx
rs959343	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93740600-93742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:93740600-93745800	Enhancers	NHEK	skin
3	chr11:93740600-93746000	Enhancers	HMEC	breast
4	chr11:93740800-93741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93740800-93746000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:93741200-93741800	Enhancers	Esophagus	oesophagus

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