Variant report

Variant	rs71595943
Chromosome Location	chr5:15668078-15668079
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10520820	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11748066	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11956557	0.91[EUR][1000 genomes]
rs13165753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13165774	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13176043	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13177182	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13177283	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13184983	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13190262	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17523444	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17523486	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17523562	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35283404	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35336928	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35839071	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129028	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4440359	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4509017	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58149311	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60776566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6554891	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6860057	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6864426	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6865410	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6871889	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6872217	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6878966	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6896719	0.85[AMR][1000 genomes]
rs7706195	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15665200-15680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15665400-15669400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:15665400-15674400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:15665600-15671000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:15667200-15669200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:15667400-15671000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:15667400-15671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:15667600-15671000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:15667800-15668400	Enhancers	Ovary	ovary
10	chr5:15667800-15676000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:15668000-15668400	Enhancers	Left Ventricle	heart
12	chr5:15668000-15668400	Enhancers	Right Atrium	heart
13	chr5:15668000-15668600	Enhancers	Fetal Heart	heart

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