Variant report

Variant	rs72991510
Chromosome Location	chr1:103626318-103626319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11164656	1.00[EUR][1000 genomes]
rs11164688	0.86[AFR][1000 genomes]
rs11164691	0.94[AFR][1000 genomes]
rs11164692	0.94[AFR][1000 genomes]
rs11164700	0.94[AFR][1000 genomes]
rs11164708	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12057475	0.94[AFR][1000 genomes]
rs12058578	1.00[EUR][1000 genomes]
rs12063403	1.00[EUR][1000 genomes]
rs12063514	0.93[AFR][1000 genomes]
rs12070729	1.00[EUR][1000 genomes]
rs12088375	0.94[AFR][1000 genomes]
rs12094397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096038	0.91[AFR][1000 genomes]
rs12096158	1.00[EUR][1000 genomes]
rs13374198	1.00[EUR][1000 genomes]
rs13374615	1.00[EUR][1000 genomes]
rs13374856	1.00[EUR][1000 genomes]
rs13375103	1.00[EUR][1000 genomes]
rs13375231	1.00[EUR][1000 genomes]
rs13375442	1.00[EUR][1000 genomes]
rs13375833	1.00[EUR][1000 genomes]
rs56739111	1.00[EUR][1000 genomes]
rs56957426	1.00[AMR][1000 genomes]
rs57183243	1.00[EUR][1000 genomes]
rs57548736	1.00[EUR][1000 genomes]
rs57799890	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57811182	1.00[AMR][1000 genomes]
rs57843906	1.00[EUR][1000 genomes]
rs58181035	1.00[EUR][1000 genomes]
rs58822881	1.00[EUR][1000 genomes]
rs58882054	1.00[EUR][1000 genomes]
rs59050890	1.00[EUR][1000 genomes]
rs59640131	1.00[EUR][1000 genomes]
rs60534143	1.00[EUR][1000 genomes]
rs61708772	1.00[EUR][1000 genomes]
rs72987842	1.00[EUR][1000 genomes]
rs72991548	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72991550	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991570	1.00[EUR][1000 genomes]
rs72991572	1.00[EUR][1000 genomes]
rs72997208	1.00[AMR][1000 genomes]
rs74108574	0.91[AFR][1000 genomes]
rs74108593	1.00[EUR][1000 genomes]
rs7542495	1.00[EUR][1000 genomes]
rs7542602	1.00[EUR][1000 genomes]
rs7552698	1.00[EUR][1000 genomes]
rs7552870	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830089	chr1:103615938-103670474	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103625800-103626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:103625800-103626400	Enhancers	HSMMtube	muscle
3	chr1:103626000-103626400	Enhancers	HSMM	muscle

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