Variant report

Variant	rs58818319
Chromosome Location	chr5:15754716-15754717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10434653	0.91[EUR][1000 genomes]
rs10434654	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10462597	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520823	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515169	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12515445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12516275	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12517648	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12518052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12519070	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12520066	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12522526	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12522561	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12655750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505040	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867546	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16867549	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16867589	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17647713	0.86[EUR][1000 genomes]
rs17647886	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17647898	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17704227	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17704245	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4296803	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4377704	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4391162	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4593267	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4701643	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702110	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58200321	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58804518	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58908332	0.86[EUR][1000 genomes]
rs59041652	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59800782	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73752499	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73755514	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73755515	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73755516	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73755517	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9637827	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637832	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790923	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028089	chr5:15636285-15883910	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv537676	chr5:15636285-15883910	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1024248	chr5:15638067-15863583	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv537677	chr5:15638067-15863583	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv880755	chr5:15670377-15938553	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
13	esv2757107	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2759327	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2763894	chr5:15714022-15863332	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1031483	chr5:15738485-15926083	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15749000-15757800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:15753200-15757400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:15753400-15757000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:15753400-15757800	Weak transcription	Right Ventricle	heart
5	chr5:15753400-15757800	Weak transcription	NHDF-Ad	bronchial
6	chr5:15753600-15755600	Enhancers	Fetal Heart	heart
7	chr5:15753600-15755600	Weak transcription	Psoas Muscle	Psoas
8	chr5:15753600-15756800	Weak transcription	Osteobl	bone
9	chr5:15753800-15756600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:15754200-15755600	Weak transcription	Fetal Lung	lung
11	chr5:15754400-15757000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:15754600-15756600	Weak transcription	Right Atrium	heart
13	chr5:15754600-15757200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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