Variant report

Variant	rs2792630
Chromosome Location	chr6:54045692-54045693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10080252	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10155669	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10484647	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10484648	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10484649	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1150874	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1150875	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963558	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11965480	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11966090	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11966747	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969471	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969948	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12177981	0.83[EUR][1000 genomes]
rs12661972	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1299293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340664	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1340665	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1340667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342831	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16869492	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16884761	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16884835	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16884943	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884946	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16885091	0.83[ASN][1000 genomes]
rs17755305	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17755375	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17828437	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1856829	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1935839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145761	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275769	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2275770	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2754794	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754802	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2792631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792636	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792638	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792646	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28847288	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4329099	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4715443	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55689719	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55760696	0.96[EUR][1000 genomes]
rs59132111	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6905950	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924913	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6934602	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6934690	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73741487	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7751241	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283919	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296742	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464027	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464030	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464034	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9464042	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464043	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464045	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464046	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474748	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474754	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474755	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474762	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474765	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474766	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474768	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474771	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474772	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474773	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474774	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9885975	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9942457	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv885887	chr6:53961784-54046264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1851754	chr6:53989526-54050219	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv823699	chr6:54038268-54047656	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	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	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54008400-54046800	Weak transcription	Right Ventricle	heart
3	chr6:54022400-54046400	Weak transcription	Left Ventricle	heart
4	chr6:54043000-54046000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54043000-54046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:54045000-54046800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:54045200-54045800	Enhancers	Fetal Heart	heart
8	chr6:54045400-54048400	Weak transcription	Brain Angular Gyrus	brain

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