Variant report

Variant	rs56137994
Chromosome Location	chr20:12709598-12709599
allele	C/G
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:38)

rs_ID	r²[population]
rs11697551	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11698851	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11699066	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11699509	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1413014	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1413015	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1413016	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1930801	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1930802	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1930803	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2225616	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2327470	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814150	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814151	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814152	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814153	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814156	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814157	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814158	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736599	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56092613	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56146900	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56664126	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57481915	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57834973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58903264	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59036896	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59645310	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73897890	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73897891	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73897893	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73897899	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73897900	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73900217	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs869209	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs869210	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs950432	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058919	chr20:11917331-12733316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544183	chr20:11917331-12733316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv18943	chr20:12627634-12841804	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12703200-12724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:12708000-12710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr20:12708800-12710000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:12709200-12709600	Enhancers	Pancreas	Pancrea
5	chr20:12709200-12710400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr20:12709400-12710200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:12709400-12710200	Enhancers	HMEC	breast
8	chr20:12709400-12710400	Enhancers	HUES6 Cell Line	embryonic stem cell

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