Variant report

Variant	rs12367975
Chromosome Location	chr12:59149234-59149235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11172711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172717	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11172730	0.93[AMR][1000 genomes]
rs11172731	0.93[AMR][1000 genomes]
rs11172737	0.93[AMR][1000 genomes]
rs11172739	0.93[AMR][1000 genomes]
rs11172742	0.93[AMR][1000 genomes]
rs11172759	0.93[AMR][1000 genomes]
rs11172771	0.83[AMR][1000 genomes]
rs11172773	0.83[AMR][1000 genomes]
rs11172774	0.83[AMR][1000 genomes]
rs11172775	0.83[AMR][1000 genomes]
rs11172777	0.83[AMR][1000 genomes]
rs11172778	0.83[AMR][1000 genomes]
rs11172779	0.83[AMR][1000 genomes]
rs11172780	0.83[AMR][1000 genomes]
rs11172783	0.83[AMR][1000 genomes]
rs11172784	0.83[AMR][1000 genomes]
rs11172786	0.83[AMR][1000 genomes]
rs11172787	0.83[AMR][1000 genomes]
rs11172790	0.83[AMR][1000 genomes]
rs1121270	0.82[ASN][1000 genomes]
rs1148531	0.88[AMR][1000 genomes]
rs11514001	0.83[AMR][1000 genomes]
rs11514219	0.83[AMR][1000 genomes]
rs11514220	0.83[AMR][1000 genomes]
rs11514221	0.83[AMR][1000 genomes]
rs11520084	0.83[AMR][1000 genomes]
rs12367092	0.93[AMR][1000 genomes]
rs12367116	0.93[AMR][1000 genomes]
rs12368328	0.87[AMR][1000 genomes]
rs12369527	0.93[AMR][1000 genomes]
rs12370599	0.93[AMR][1000 genomes]
rs12371811	0.87[AMR][1000 genomes]
rs12372281	0.93[AMR][1000 genomes]
rs1391021	1.00[ASN][1000 genomes]
rs1497235	1.00[ASN][1000 genomes]
rs17121454	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121505	0.93[AMR][1000 genomes]
rs17121548	0.93[AMR][1000 genomes]
rs17121569	0.93[AMR][1000 genomes]
rs17121576	0.93[AMR][1000 genomes]
rs17121582	0.88[AMR][1000 genomes]
rs2124516	1.00[ASN][1000 genomes]
rs2279718	0.83[AMR][1000 genomes]
rs2293659	0.83[AMR][1000 genomes]
rs2605426	1.00[ASN][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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1049807	chr12:59069437-59227711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv826390	chr12:59097995-59199786	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59140000-59150600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:59144800-59151200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:59145200-59150600	Weak transcription	NH-A	brain
4	chr12:59145400-59150800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:59145600-59150400	Weak transcription	NHDF-Ad	bronchial
6	chr12:59146200-59150600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:59146400-59150600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:59146800-59150400	Weak transcription	NHLF	lung

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