Variant report

Variant	rs6595578
Chromosome Location	chr5:124481477-124481478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10040497	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10050592	0.87[EUR][1000 genomes]
rs10050742	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10051335	0.83[ASN][1000 genomes]
rs10067150	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10067228	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10068672	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085148	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1008776	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109910	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1109911	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109912	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241789	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741331	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11743350	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11744843	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11746972	0.96[ASN][1000 genomes]
rs11747137	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12188105	0.91[ASN][1000 genomes]
rs12189383	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12520570	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13161894	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13162105	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162223	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178008	0.91[ASN][1000 genomes]
rs13187207	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13188430	0.91[ASN][1000 genomes]
rs13359280	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1371373	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1371374	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1550356	0.91[ASN][1000 genomes]
rs1550357	0.91[ASN][1000 genomes]
rs1550358	0.91[ASN][1000 genomes]
rs1550361	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550364	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550365	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17449514	0.83[ASN][1000 genomes]
rs17456443	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456490	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033842	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2218125	0.87[ASN][1000 genomes]
rs28662294	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34348381	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34519250	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35918516	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836151	0.91[ASN][1000 genomes]
rs4836153	0.91[ASN][1000 genomes]
rs4836155	0.91[ASN][1000 genomes]
rs5016080	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5016082	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs5016083	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065010	0.83[ASN][1000 genomes]
rs56171860	0.87[ASN][1000 genomes]
rs61581106	0.96[ASN][1000 genomes]
rs62375663	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62375664	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6595576	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595577	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862170	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865099	0.87[ASN][1000 genomes]
rs6865632	0.87[ASN][1000 genomes]
rs6869646	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6885185	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6886317	0.87[ASN][1000 genomes]
rs6888003	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6892666	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719958	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7720525	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7721241	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7724689	0.96[ASN][1000 genomes]
rs7733868	0.87[ASN][1000 genomes]
rs953844	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9686650	0.87[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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124471400-124484600	Weak transcription	HSMM	muscle
2	chr5:124477200-124488200	Weak transcription	HUVEC	blood vessel
3	chr5:124477400-124484600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:124478800-124484200	Weak transcription	NHDF-Ad	bronchial

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