Variant report

Variant	rs72997249
Chromosome Location	chr1:103749027-103749028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10874700	1.00[EUR][1000 genomes]
rs11164753	1.00[EUR][1000 genomes]
rs11164755	1.00[EUR][1000 genomes]
rs12072095	1.00[EUR][1000 genomes]
rs12074897	1.00[EUR][1000 genomes]
rs17127739	1.00[EUR][1000 genomes]
rs2091508	1.00[EUR][1000 genomes]
rs2376358	1.00[EUR][1000 genomes]
rs2376359	1.00[EUR][1000 genomes]
rs2376360	1.00[EUR][1000 genomes]
rs28368360	1.00[EUR][1000 genomes]
rs28371106	1.00[EUR][1000 genomes]
rs28374218	1.00[EUR][1000 genomes]
rs28391272	1.00[EUR][1000 genomes]
rs28464147	1.00[EUR][1000 genomes]
rs28486012	1.00[EUR][1000 genomes]
rs28506030	1.00[EUR][1000 genomes]
rs28520946	1.00[EUR][1000 genomes]
rs28545401	1.00[EUR][1000 genomes]
rs28583079	1.00[EUR][1000 genomes]
rs28601794	1.00[EUR][1000 genomes]
rs28604523	1.00[EUR][1000 genomes]
rs28608755	1.00[EUR][1000 genomes]
rs28622345	1.00[EUR][1000 genomes]
rs28680898	1.00[EUR][1000 genomes]
rs35027169	1.00[EUR][1000 genomes]
rs56978943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59217793	1.00[EUR][1000 genomes]
rs72997203	1.00[EUR][1000 genomes]
rs72997208	1.00[EUR][1000 genomes]
rs72997211	1.00[EUR][1000 genomes]
rs72997238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	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
3	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
4	nsv432554	chr1:103673437-104128773	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv870954	chr1:103730700-103940483	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv533171	chr1:103746487-104297301	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv160700	chr1:103747389-103750782	Enhancers Flanking 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	chr1:103748800-103751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:103749000-103750200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103749000-103751000	Enhancers	Muscle Satellite Cultured Cells	--

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