Variant report

Variant	rs72997203
Chromosome Location	chr1:103732141-103732142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10874700	1.00[EUR][1000 genomes]
rs11164753	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164755	1.00[EUR][1000 genomes]
rs12072095	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074897	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1415356	1.00[EUR][1000 genomes]
rs17127739	1.00[EUR][1000 genomes]
rs2091508	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2376358	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2376359	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2376360	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56978943	1.00[EUR][1000 genomes]
rs59217793	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72997208	1.00[EUR][1000 genomes]
rs72997211	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72997238	1.00[EUR][1000 genomes]
rs72997249	1.00[EUR][1000 genomes]
rs74108859	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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103730600-103732400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:103730600-103732600	Enhancers	HSMM	muscle
3	chr1:103730600-103733200	Enhancers	HSMMtube	muscle
4	chr1:103730800-103732400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:103730800-103732400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:103731000-103732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:103731400-103736400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:103731600-103732600	Enhancers	NH-A	brain
9	chr1:103731600-103732600	Enhancers	Osteobl	bone
10	chr1:103731600-103737000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:103731800-103732600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:103731800-103733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103732000-103733600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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