Variant report

Variant	rs12940524
Chromosome Location	chr17:50867299-50867300
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	chr17:50866702..50868540-chr17:50872660..50874168,2	K562	blood:
2	chr17:50867040..50869954-chr17:50872513..50874168,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11080019	0.84[ASN][1000 genomes]
rs11653986	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11869315	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450666	0.84[ASN][1000 genomes]
rs12602264	0.83[ASN][1000 genomes]
rs12602377	0.83[ASN][1000 genomes]
rs12937039	0.84[ASN][1000 genomes]
rs12939792	0.84[ASN][1000 genomes]
rs12944681	0.82[ASN][1000 genomes]
rs12945789	0.82[ASN][1000 genomes]
rs12946709	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12949234	0.84[ASN][1000 genomes]
rs12950080	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2320097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2331529	0.92[ASN][1000 genomes]
rs2331530	0.93[ASN][1000 genomes]
rs34230761	0.84[ASN][1000 genomes]
rs34457742	0.84[ASN][1000 genomes]
rs34644858	0.87[ASN][1000 genomes]
rs35250963	0.84[ASN][1000 genomes]
rs35914127	0.84[ASN][1000 genomes]
rs36031798	0.84[ASN][1000 genomes]
rs3848458	0.92[ASN][1000 genomes]
rs4277392	0.84[ASN][1000 genomes]
rs4302093	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340372	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4488498	0.84[ASN][1000 genomes]
rs4635383	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794387	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4794389	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5009414	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55756557	0.84[ASN][1000 genomes]
rs60901684	0.84[ASN][1000 genomes]
rs62059257	0.84[ASN][1000 genomes]
rs6504785	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7222678	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7222836	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7222952	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7225600	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226032	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8065004	0.90[ASN][1000 genomes]
rs8065810	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8069527	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8071685	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8077050	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8079528	0.90[ASN][1000 genomes]
rs8080513	0.82[ASN][1000 genomes]
rs8081125	0.84[ASN][1000 genomes]
rs9893532	0.84[ASN][1000 genomes]
rs9896562	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9897082	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9903477	0.92[ASN][1000 genomes]
rs9911931	0.92[ASN][1000 genomes]
rs9913884	0.93[ASN][1000 genomes]
rs9914292	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9916020	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528447	chr17:50323521-51118173	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1058871	chr17:50636576-51084535	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv543388	chr17:50636576-51084535	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv908614	chr17:50644300-50888949	Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1058064	chr17:50650659-51069119	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv543389	chr17:50650659-51069119	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv908615	chr17:50663355-50930169	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv575557	chr17:50816035-50944581	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50866200-50869000	Enhancers	HUVEC	blood vessel
2	chr17:50866800-50867800	Weak transcription	Adipose Nuclei	Adipose

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