Variant report

Variant	rs12423188
Chromosome Location	chr12:59644663-59644664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12422227	1.00[EUR][1000 genomes]
rs12422268	1.00[EUR][1000 genomes]
rs12422283	1.00[EUR][1000 genomes]
rs12422465	1.00[EUR][1000 genomes]
rs12422874	0.85[ASN][1000 genomes]
rs12423633	1.00[EUR][1000 genomes]
rs12423917	1.00[EUR][1000 genomes]
rs12424141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12424250	1.00[EUR][1000 genomes]
rs12424261	1.00[EUR][1000 genomes]
rs12424293	1.00[EUR][1000 genomes]
rs12424303	1.00[EUR][1000 genomes]
rs12424565	1.00[EUR][1000 genomes]
rs12424636	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12424714	1.00[EUR][1000 genomes]
rs12424915	1.00[EUR][1000 genomes]
rs12425759	1.00[EUR][1000 genomes]
rs12425817	1.00[EUR][1000 genomes]
rs12426140	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426503	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426529	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426661	1.00[EUR][1000 genomes]
rs12426936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426958	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426972	1.00[EUR][1000 genomes]
rs12426976	1.00[EUR][1000 genomes]
rs12427274	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12427374	1.00[EUR][1000 genomes]
rs1500035	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1606933	1.00[EUR][1000 genomes]
rs1850127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35087760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3913372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60055169	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60819410	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7486254	0.85[ASN][1000 genomes]
rs7978991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1054961	chr12:59516659-59764209	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv541506	chr12:59516659-59764209	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050375	chr12:59550900-59655366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv832430	chr12:59552811-59658333	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1039996	chr12:59556074-59645306	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv899127	chr12:59575430-59683281	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1051696	chr12:59622403-59741106	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv899128	chr12:59636969-59766169	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr12:59642600-59646600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:59644000-59644800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:59644000-59645000	Enhancers	Brain Hippocampus Middle	brain
4	chr12:59644200-59644800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:59644200-59644800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:59644200-59644800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:59644200-59644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:59644400-59644800	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:59644600-59646600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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