Variant report

Variant	rs73927961
Chromosome Location	chr2:48480839-48480840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11897391	1.00[AMR][1000 genomes]
rs11898242	1.00[AMR][1000 genomes]
rs11901147	1.00[AMR][1000 genomes]
rs1396827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483211	1.00[AMR][1000 genomes]
rs1483212	1.00[AMR][1000 genomes]
rs17037118	1.00[AMR][1000 genomes]
rs17037121	1.00[AMR][1000 genomes]
rs17037139	1.00[AMR][1000 genomes]
rs17037152	1.00[AMR][1000 genomes]
rs17037198	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28702589	1.00[AMR][1000 genomes]
rs55876292	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55877668	1.00[AMR][1000 genomes]
rs56162077	1.00[AMR][1000 genomes]
rs56244209	1.00[AMR][1000 genomes]
rs57023060	1.00[AMR][1000 genomes]
rs58394027	1.00[AMR][1000 genomes]
rs60806982	1.00[AMR][1000 genomes]
rs61615260	1.00[AMR][1000 genomes]
rs73927926	1.00[AMR][1000 genomes]
rs73927927	1.00[AMR][1000 genomes]
rs73927928	1.00[AMR][1000 genomes]
rs73927929	1.00[AMR][1000 genomes]
rs73927931	1.00[AMR][1000 genomes]
rs73927934	1.00[AMR][1000 genomes]
rs73927935	1.00[AMR][1000 genomes]
rs73927937	1.00[AMR][1000 genomes]
rs73927938	1.00[AMR][1000 genomes]
rs73927940	1.00[AMR][1000 genomes]
rs73927942	1.00[AMR][1000 genomes]
rs73927945	1.00[AMR][1000 genomes]
rs73927946	1.00[AMR][1000 genomes]
rs73927949	1.00[AMR][1000 genomes]
rs73927950	1.00[AMR][1000 genomes]
rs73927951	1.00[AMR][1000 genomes]
rs73927955	1.00[AMR][1000 genomes]
rs73927956	1.00[AMR][1000 genomes]
rs73927960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48475400-48487200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:48476200-48482000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:48476400-48481600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:48479000-48481000	Enhancers	K562	blood
5	chr2:48479400-48483600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:48479400-48484800	Weak transcription	Fetal Intestine Small	intestine
7	chr2:48479600-48481200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:48479800-48482000	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:48480200-48481000	Enhancers	GM12878-XiMat	blood
10	chr2:48480200-48481000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:48480200-48483000	Enhancers	Primary B cells from cord blood	blood

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