Variant report

Variant	rs72686305
Chromosome Location	chr8:120449041-120449042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10505358	0.90[EUR][1000 genomes]
rs10955927	0.98[ASN][1000 genomes]
rs11776544	0.98[ASN][1000 genomes]
rs11778491	0.98[ASN][1000 genomes]
rs11781027	0.98[ASN][1000 genomes]
rs11782103	0.98[ASN][1000 genomes]
rs11784242	0.98[ASN][1000 genomes]
rs1381338	0.98[ASN][1000 genomes]
rs1461691	0.98[ASN][1000 genomes]
rs1461692	0.90[EUR][1000 genomes]
rs1461693	0.98[ASN][1000 genomes]
rs1461695	0.98[ASN][1000 genomes]
rs1461696	0.96[ASN][1000 genomes]
rs1461697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461698	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892491	0.86[ASN][1000 genomes]
rs16892497	0.86[ASN][1000 genomes]
rs16892553	0.90[EUR][1000 genomes]
rs16892556	0.90[EUR][1000 genomes]
rs16892582	0.98[ASN][1000 genomes]
rs16892586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892623	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892625	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892628	0.96[ASN][1000 genomes]
rs16892630	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892631	1.00[ASN][1000 genomes]
rs16892633	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892636	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16892639	0.98[ASN][1000 genomes]
rs16892644	1.00[ASN][1000 genomes]
rs16892646	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1870779	0.97[ASN][1000 genomes]
rs2071526	0.83[ASN][1000 genomes]
rs2279112	0.90[ASN][1000 genomes]
rs2326246	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55976504	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56768061	0.86[ASN][1000 genomes]
rs57103042	0.86[ASN][1000 genomes]
rs60484498	0.86[ASN][1000 genomes]
rs6982139	1.00[ASN][1000 genomes]
rs6983056	0.98[ASN][1000 genomes]
rs6983393	0.98[ASN][1000 genomes]
rs6990760	0.98[ASN][1000 genomes]
rs6993389	0.98[ASN][1000 genomes]
rs6997943	0.98[ASN][1000 genomes]
rs7012790	0.98[ASN][1000 genomes]
rs7014927	0.91[ASN][1000 genomes]
rs7015188	0.98[ASN][1000 genomes]
rs7016011	0.98[ASN][1000 genomes]
rs72684286	0.81[ASN][1000 genomes]
rs72684287	0.91[EUR][1000 genomes]
rs72684288	0.87[EUR][1000 genomes]
rs72684289	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72684293	0.86[ASN][1000 genomes]
rs72684301	0.90[EUR][1000 genomes]
rs72686306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686316	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7839760	0.83[ASN][1000 genomes]
rs922265	1.00[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv527032	chr8:120433976-120449997	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120441000-120450000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:120443200-120450000	Weak transcription	Aorta	Aorta
3	chr8:120448200-120450400	Enhancers	NHDF-Ad	bronchial
4	chr8:120448400-120449400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:120448400-120451200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:120448400-120452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:120448600-120451400	Enhancers	Fetal Stomach	stomach
8	chr8:120448800-120449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:120449000-120449600	Enhancers	Fetal Lung	lung

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