Variant report

Variant	rs4517711
Chromosome Location	chr14:79513503-79513504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10133874	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10135754	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10135769	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10139452	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10139460	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141828	0.83[EUR][1000 genomes]
rs10141996	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10142256	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10142652	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10143998	0.87[AMR][1000 genomes]
rs10146180	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146527	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10146542	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10147558	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10147940	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148388	0.84[EUR][1000 genomes]
rs10150011	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10151590	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625343	0.83[EUR][1000 genomes]
rs11627661	0.83[EUR][1000 genomes]
rs11627905	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11849134	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12323794	0.83[EUR][1000 genomes]
rs12432817	0.80[AMR][1000 genomes]
rs12435865	0.80[EUR][1000 genomes]
rs12586394	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12882464	0.86[AMR][1000 genomes]
rs12897265	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1547533	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1547535	0.87[AMR][1000 genomes]
rs17108558	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108575	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1875595	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1995411	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062740	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2062741	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2062744	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2202167	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2202168	0.88[AMR][1000 genomes]
rs2221297	0.80[EUR][1000 genomes]
rs2370895	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2370902	0.84[EUR][1000 genomes]
rs28706257	0.84[EUR][1000 genomes]
rs28831381	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34121288	0.83[EUR][1000 genomes]
rs4903811	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4903812	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4903816	0.87[AMR][1000 genomes]
rs4903825	0.83[EUR][1000 genomes]
rs4903833	0.82[EUR][1000 genomes]
rs61639937	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574478	0.87[AMR][1000 genomes]
rs6574480	0.80[AMR][1000 genomes]
rs7155818	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7157779	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72687406	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005334	0.83[EUR][1000 genomes]
rs8006615	0.81[AMR][1000 genomes]
rs8011832	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8012099	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014314	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8016756	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8017018	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323669	0.89[ASN][1000 genomes]
rs9323670	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79512200-79515800	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79512400-79516800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:79512800-79517000	Weak transcription	HSMM	muscle
4	chr14:79513000-79517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:79513000-79517200	Weak transcription	NHEK	skin
6	chr14:79513400-79517000	Weak transcription	HMEC	breast

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