Variant report

Variant	rs11111970
Chromosome Location	chr12:104666429-104666430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10745998	0.93[AFR][1000 genomes]
rs10778316	0.91[AFR][1000 genomes]
rs10778317	0.91[AFR][1000 genomes]
rs10778318	0.87[AFR][1000 genomes]
rs11111973	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318033	0.89[ASN][1000 genomes]
rs12368657	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534514	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626346	0.85[AFR][1000 genomes]
rs34217906	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34407590	0.89[ASN][1000 genomes]
rs34494070	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34518697	0.94[ASN][1000 genomes]
rs34612644	0.94[ASN][1000 genomes]
rs35009941	0.94[ASN][1000 genomes]
rs35456434	0.94[ASN][1000 genomes]
rs35472124	0.94[ASN][1000 genomes]
rs35764486	0.94[ASN][1000 genomes]
rs4246267	0.89[AFR][1000 genomes]
rs4254139	0.87[AFR][1000 genomes]
rs4576900	0.94[ASN][1000 genomes]
rs4964753	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58078551	0.94[ASN][1000 genomes]
rs58716236	0.94[ASN][1000 genomes]
rs7136838	0.82[AFR][1000 genomes]
rs7295751	0.82[AFR][1000 genomes]
rs7303284	0.94[ASN][1000 genomes]
rs7309973	0.94[ASN][1000 genomes]
rs7342321	0.85[AFR][1000 genomes]
rs7342395	0.91[AFR][1000 genomes]
rs7958103	0.94[ASN][1000 genomes]
rs7969435	0.89[AFR][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104658200-104670000	Weak transcription	NHLF	lung
4	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:104663600-104670000	Weak transcription	Brain Substantia Nigra	brain
8	chr12:104664600-104673200	Weak transcription	HSMM	muscle
9	chr12:104665600-104666800	Enhancers	A549	lung
10	chr12:104665600-104667200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104666000-104667600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:104666400-104666800	Weak transcription	Stomach Mucosa	stomach
13	chr12:104666400-104668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104666400-104668600	Weak transcription	NHEK	skin

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