Variant report

Variant	rs12722914
Chromosome Location	chr1:104679534-104679535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12060680	1.00[EUR][1000 genomes]
rs12062742	1.00[EUR][1000 genomes]
rs12091885	1.00[EUR][1000 genomes]
rs12728437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1932472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34176652	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34193787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34595979	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34910942	1.00[AMR][1000 genomes]
rs34948529	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34957040	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35638527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67811026	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67883107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71655845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71669408	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71669409	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71669412	0.86[AFR][1000 genomes]
rs72989543	0.85[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	nsv1014507	chr1:104307231-104784753	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012931	chr1:104322484-104778961	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872072	chr1:104470622-105076810	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010903	chr1:104483363-105468941	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv872073	chr1:104502333-104719055	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1839044	chr1:104576359-104707906	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv482341	chr1:104589525-104731812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104676800-104679800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:104678000-104679800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr1:104678000-104687000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:104678600-104679600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:104678800-104680400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:104679200-104679600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:104679200-104680600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:104679200-104680600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:104679400-104679600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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