Variant report

Variant	rs2754812
Chromosome Location	chr6:54073244-54073245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10456171	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1150873	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12195488	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12201129	0.90[EUR][1000 genomes]
rs12201557	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12206177	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12212572	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12214345	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12215211	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1298143	0.92[EUR][1000 genomes]
rs1417390	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2066205	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2754786	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2754809	0.84[AFR][1000 genomes]
rs2754813	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792644	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2792656	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3957360	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6905414	0.90[EUR][1000 genomes]
rs6937514	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6939568	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs843827	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9349700	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9370276	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9382311	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9395920	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9464035	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
3	chr6:54070200-54098800	Weak transcription	Fetal Heart	heart
4	chr6:54070400-54095200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54072600-54075000	Weak transcription	HepG2	liver

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