Variant report

Variant	rs6546759
Chromosome Location	chr2:72527224-72527225
allele	C/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:71)

rs_ID	r²[population]
rs10173381	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194216	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207299	0.86[AFR][1000 genomes]
rs11126366	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052508	1.00[ASN][1000 genomes]
rs12468057	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12992973	1.00[ASN][1000 genomes]
rs13390754	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395204	0.86[AFR][1000 genomes]
rs13423761	0.82[AFR][1000 genomes]
rs13432350	0.89[AFR][1000 genomes]
rs1400581	1.00[ASN][1000 genomes]
rs1517185	1.00[ASN][1000 genomes]
rs1947118	1.00[ASN][1000 genomes]
rs2192014	0.86[AFR][1000 genomes]
rs2203679	1.00[ASN][1000 genomes]
rs2420444	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901146	1.00[ASN][1000 genomes]
rs3115351	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852285	0.82[AFR][1000 genomes]
rs4852873	1.00[ASN][1000 genomes]
rs4852874	1.00[ASN][1000 genomes]
rs57270251	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs583119	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584522	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587744	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589547	1.00[ASN][1000 genomes]
rs590252	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590345	1.00[ASN][1000 genomes]
rs598138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598496	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620770	1.00[ASN][1000 genomes]
rs628432	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630241	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634586	1.00[ASN][1000 genomes]
rs638854	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640610	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641939	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642652	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647242	1.00[ASN][1000 genomes]
rs653220	1.00[ASN][1000 genomes]
rs6546753	0.86[AFR][1000 genomes]
rs6546755	0.86[AFR][1000 genomes]
rs6546756	0.86[AFR][1000 genomes]
rs6546760	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546764	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659833	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663218	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666233	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668586	1.00[ASN][1000 genomes]
rs6711265	1.00[ASN][1000 genomes]
rs6714312	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714419	1.00[ASN][1000 genomes]
rs6714595	1.00[ASN][1000 genomes]
rs6727607	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6737565	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752122	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758593	1.00[ASN][1000 genomes]
rs680495	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689154	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420588	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420667	1.00[ASN][1000 genomes]
rs7558686	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558919	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563738	1.00[ASN][1000 genomes]
rs7568803	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580952	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594350	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595180	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595315	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72524600-72552800	Weak transcription	Left Ventricle	heart
2	chr2:72526200-72531000	Weak transcription	Esophagus	oesophagus
3	chr2:72527000-72527400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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