Variant report

Variant	rs72693013
Chromosome Location	chr14:81315992-81315993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133034	0.82[EUR][1000 genomes]
rs10135084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137041	0.82[ASN][1000 genomes]
rs10141970	0.82[ASN][1000 genomes]
rs10144692	0.82[ASN][1000 genomes]
rs1016699	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627934	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1197467	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197473	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1197474	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050342	0.81[ASN][1000 genomes]
rs12050416	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12433134	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12434318	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs150997	0.81[EUR][1000 genomes]
rs162171	0.82[EUR][1000 genomes]
rs162174	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170596	0.82[ASN][1000 genomes]
rs1797671	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863765	0.86[ASN][1000 genomes]
rs1863766	0.82[ASN][1000 genomes]
rs228109	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228124	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228126	0.82[ASN][1000 genomes]
rs228128	0.82[ASN][1000 genomes]
rs2288347	0.82[ASN][1000 genomes]
rs2371420	0.81[ASN][1000 genomes]
rs2371421	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371456	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2556603	0.82[ASN][1000 genomes]
rs2556604	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556606	0.82[ASN][1000 genomes]
rs2556607	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2556608	0.82[ASN][1000 genomes]
rs2556610	0.82[ASN][1000 genomes]
rs2556611	0.82[ASN][1000 genomes]
rs2556613	0.86[ASN][1000 genomes]
rs2556615	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2619661	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28850656	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2888032	0.81[ASN][1000 genomes]
rs327426	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327431	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327434	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327451	0.94[ASN][1000 genomes]
rs327452	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327454	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs328206	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs328212	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs328213	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899780	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899781	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903943	0.82[ASN][1000 genomes]
rs4903944	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903946	0.82[ASN][1000 genomes]
rs58625998	0.89[ASN][1000 genomes]
rs58699962	0.82[ASN][1000 genomes]
rs6574606	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574609	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574611	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140452	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7147306	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156306	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156572	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7493314	0.81[ASN][1000 genomes]
rs759919	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs768359	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008366	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009508	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010491	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016507	0.81[ASN][1000 genomes]
rs8017038	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9323694	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671671	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:81305200-81321600	Weak transcription	Fetal Thymus	thymus
5	chr14:81311400-81316000	Weak transcription	HSMMtube	muscle
6	chr14:81311400-81322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:81315000-81322000	Weak transcription	Thymus	Thymus
8	chr14:81315200-81317000	Enhancers	Dnd41	blood
9	chr14:81315600-81316200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:81315600-81316600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:81315600-81316800	Enhancers	Osteobl	bone
12	chr14:81315600-81317600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:81315600-81317800	Enhancers	A549	lung
14	chr14:81315600-81317800	Enhancers	HSMM	muscle

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