Variant report

Variant	rs12153261
Chromosome Location	chr5:167262508-167262509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1035374	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519816	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12521018	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1421989	0.91[ASN][1000 genomes]
rs1421990	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1549151	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549152	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2052466	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869075	0.91[ASN][1000 genomes]
rs4869076	0.80[ASN][1000 genomes]
rs55698578	0.87[ASN][1000 genomes]
rs6859905	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72835612	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73388370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7714210	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167248600-167270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167255400-167264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167260400-167263800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167262000-167262600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167262000-167262600	Enhancers	HSMMtube	muscle
8	chr5:167262000-167263000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:167262000-167263000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:167262000-167263600	Enhancers	NHEK	skin
11	chr5:167262200-167262600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167262200-167262800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:167262200-167262800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:167262200-167262800	Enhancers	HMEC	breast
15	chr5:167262200-167263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:167262200-167263200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:167262400-167262600	Enhancers	Fetal Lung	lung
18	chr5:167262400-167262800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:167262400-167262800	Enhancers	HSMM	muscle
20	chr5:167262400-167262800	Enhancers	Osteobl	bone
21	chr5:167262400-167263000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:167262400-167263000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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