Variant report

Variant	rs17122093
Chromosome Location	chr12:59492214-59492215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10506353	0.96[EUR][1000 genomes]
rs10735877	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12423606	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424452	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12426927	0.85[ASN][1000 genomes]
rs1444090	0.82[EUR][1000 genomes]
rs1500023	0.83[ASN][1000 genomes]
rs17553430	0.83[ASN][1000 genomes]
rs17628225	0.95[EUR][1000 genomes]
rs4760262	0.85[ASN][1000 genomes]
rs4760263	0.83[ASN][1000 genomes]
rs4760265	0.83[ASN][1000 genomes]
rs58788934	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61934327	0.96[EUR][1000 genomes]
rs61934328	0.96[EUR][1000 genomes]
rs61934330	0.96[EUR][1000 genomes]
rs61934332	0.99[EUR][1000 genomes]
rs61934333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134004	0.83[EUR][1000 genomes]
rs7485424	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7486263	0.85[ASN][1000 genomes]
rs907344	0.83[EUR][1000 genomes]
rs908393	0.87[ASN][1000 genomes]
rs978615	0.85[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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:59480600-59494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:59487600-59495000	Weak transcription	HMEC	breast
4	chr12:59489200-59496800	Weak transcription	Esophagus	oesophagus
5	chr12:59490400-59493200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:59490800-59494400	Weak transcription	NHEK	skin
7	chr12:59491400-59493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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