Variant report

Variant	rs72830367
Chromosome Location	chr2:115471825-115471826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17043547	0.89[EUR][1000 genomes]
rs59873976	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61273778	0.89[EUR][1000 genomes]
rs72826512	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826514	0.89[EUR][1000 genomes]
rs72826516	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826517	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826518	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826519	0.89[EUR][1000 genomes]
rs72826525	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826527	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72826537	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830357	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830359	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830360	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830362	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830363	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830364	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830365	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830371	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830373	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830374	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830376	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830377	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72830385	0.89[EUR][1000 genomes]
rs72830388	0.89[EUR][1000 genomes]
rs72830402	0.89[EUR][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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv834338	chr2:115320185-115481229	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115469200-115472000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:115469400-115472000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:115469600-115472000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:115469800-115472000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:115471200-115472200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:115471200-115472600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:115471200-115472800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:115471400-115472400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:115471400-115473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:115471600-115472000	Enhancers	Brain Substantia Nigra	brain
11	chr2:115471600-115472600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:115471600-115472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:115471600-115473400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:115471800-115472600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:115471800-115472600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:115471800-115472600	Enhancers	Brain Germinal Matrix	brain
17	chr2:115471800-115472800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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