Variant report

Variant	rs28847288
Chromosome Location	chr6:53982758-53982759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10080252	0.81[EUR][1000 genomes]
rs10155669	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10484647	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10484648	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10484649	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1150874	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1150875	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1150880	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1150884	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11963558	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11965480	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11966090	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11966747	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11969471	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11969948	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12177981	0.80[EUR][1000 genomes]
rs1299293	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1340664	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1340665	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340667	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1342831	0.81[EUR][1000 genomes]
rs16869492	0.81[EUR][1000 genomes]
rs16884761	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884835	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16884943	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16884946	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17755305	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17755375	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17828437	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1856829	0.81[EUR][1000 genomes]
rs1935839	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145761	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275769	0.81[EUR][1000 genomes]
rs2275770	0.81[EUR][1000 genomes]
rs2754794	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2754795	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2754798	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2754802	0.93[ASN][1000 genomes]
rs2792630	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792631	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792634	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792635	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792636	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792638	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2792646	0.82[ASN][1000 genomes]
rs4329099	0.81[EUR][1000 genomes]
rs4715443	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55689719	0.81[EUR][1000 genomes]
rs55760696	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6905950	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6934602	0.81[EUR][1000 genomes]
rs6934690	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7751241	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9464027	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9464028	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9464030	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9464034	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9474748	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9474754	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9474755	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9474762	0.81[EUR][1000 genomes]
rs9474765	0.81[EUR][1000 genomes]
rs9474766	0.81[EUR][1000 genomes]
rs9885975	0.81[EUR][1000 genomes]
rs9942457	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	esv2757169	chr6:53951857-54007349	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885886	chr6:53956877-54009067	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53972800-53989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:53976800-53989200	Weak transcription	Left Ventricle	heart
3	chr6:53977600-53992400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:53980000-53989400	Weak transcription	Psoas Muscle	Psoas
5	chr6:53981000-53986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:53981200-53982800	Weak transcription	Fetal Heart	heart
7	chr6:53982600-53983000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:53982600-53983200	Enhancers	Skeletal Muscle Female	skeletal muscle

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