Variant report

Variant	rs925438
Chromosome Location	chr12:59482873-59482874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10783937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10783938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172908	1.00[AFR][1000 genomes]
rs1515902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867411	1.00[AMR][1000 genomes]
rs1878095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1948700	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977456	0.97[AFR][1000 genomes];1.00[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:59480400-59483200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:59480600-59486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:59480600-59494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:59480800-59487200	Weak transcription	HMEC	breast
8	chr12:59480800-59490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:59481000-59486400	Weak transcription	NHEK	skin
10	chr12:59481400-59486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:59482200-59483000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:59482200-59483200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:59482400-59483000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:59482400-59483000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:59482400-59483200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:59482400-59483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:59482600-59483000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:59482600-59484200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:59482800-59483200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:59482800-59486000	Weak transcription	NHDF-Ad	bronchial
21	chr12:59482800-59486200	Weak transcription	NHLF	lung

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