Variant report

Variant	rs2139282
Chromosome Location	chr4:124982833-124982834
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:124982529-124982953	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr4:124982499-124983009	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000250484	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11735948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638096	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1014750	chr4:124966525-125111807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000839	chr4:124966525-125115590	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1001176	chr4:124977327-124988425	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:124981000-124983000	Enhancers	HSMMtube	muscle
2	chr4:124981000-124983400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:124981000-124984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124981400-124983400	Enhancers	HSMM	muscle
5	chr4:124981400-124983400	Enhancers	NHDF-Ad	bronchial
6	chr4:124981400-124984800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:124981600-124983200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:124981800-124983400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:124981800-124983600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:124982000-124983000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124982000-124983600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:124982000-124984000	Enhancers	Adipose Nuclei	Adipose
13	chr4:124982200-124983000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:124982200-124983400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:124982400-124983000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:124982400-124984600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124982400-124987600	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:124982600-124983000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:124982600-124985000	Weak transcription	NHLF	lung
20	chr4:124982800-124983800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:124982800-125000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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