Variant report

Variant	rs2331530
Chromosome Location	chr17:50903357-50903358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11080019	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11653986	0.86[ASN][1000 genomes]
rs11869315	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12450666	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12602264	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12602377	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12937039	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12939792	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12940524	0.93[ASN][1000 genomes]
rs12944681	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12945789	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12946709	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12949234	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12950080	0.91[ASN][1000 genomes]
rs2320097	0.91[ASN][1000 genomes]
rs2331529	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34230761	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34457742	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35250963	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35495691	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35914127	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36031798	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3848458	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277392	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4302093	0.93[ASN][1000 genomes]
rs4340372	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4488498	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4635383	0.93[ASN][1000 genomes]
rs4794387	0.86[ASN][1000 genomes]
rs4794389	0.86[ASN][1000 genomes]
rs5009414	0.86[ASN][1000 genomes]
rs55756557	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60901684	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62059257	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504785	0.86[ASN][1000 genomes]
rs7222678	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7222836	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7222952	0.86[ASN][1000 genomes]
rs7225600	0.93[ASN][1000 genomes]
rs7226032	0.90[ASN][1000 genomes]
rs8065004	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8065810	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8069527	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8071685	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8077050	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8079528	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8080513	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081125	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9807103	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9893532	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9896562	0.86[ASN][1000 genomes]
rs9897082	0.92[ASN][1000 genomes]
rs9903477	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9911931	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9913884	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9914292	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9916020	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50900000-50905000	Enhancers	Liver	Liver
2	chr17:50900800-50904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:50901800-50904400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr17:50902400-50904600	Weak transcription	Psoas Muscle	Psoas
5	chr17:50903200-50908600	Weak transcription	Rectal Mucosa Donor 29	rectum

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