Variant report

Variant	rs9474748
Chromosome Location	chr6:54034796-54034797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10080252	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10155669	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10484647	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10484648	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10484649	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1150874	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1150875	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150880	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150884	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963558	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11965480	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11966090	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11966747	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969471	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969948	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12177981	0.84[EUR][1000 genomes]
rs12661972	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1299293	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340664	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1340665	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1340667	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342831	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16869492	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16884761	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16884835	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16884943	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884946	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16885091	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17755305	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17755375	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17828437	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1856829	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1935839	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275769	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2275770	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2754794	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754795	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754798	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754802	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2792630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792631	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792634	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792635	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792636	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792638	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792646	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28847288	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41530746	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4329099	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4715443	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55689719	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55760696	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59132111	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6905950	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924913	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6934602	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6934690	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73741487	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7751241	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283919	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296742	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464028	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464034	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9464042	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464043	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464045	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464046	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474746	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9474754	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474762	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474765	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474766	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474768	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474771	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474772	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474773	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474774	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9885975	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9942457	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54003000-54041400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:54008400-54046800	Weak transcription	Right Ventricle	heart
4	chr6:54022400-54037200	Weak transcription	Fetal Heart	heart
5	chr6:54022400-54046400	Weak transcription	Left Ventricle	heart
6	chr6:54028800-54037200	Weak transcription	Liver	Liver
7	chr6:54030000-54037000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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