Variant report

Variant	rs72672830
Chromosome Location	chr4:124862994-124862995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124861115..124863885-chr4:124872326..124874671,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17755561	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1914900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672804	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879875	chr4:124821888-124904592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv879876	chr4:124847477-124908231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv879877	chr4:124847477-124935698	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv879878	chr4:124850901-124935698	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:124858600-124863000	Weak transcription	Stomach Mucosa	stomach
4	chr4:124859000-124863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:124859200-124864200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:124860800-124863400	Enhancers	HSMM	muscle
7	chr4:124861200-124863400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:124861200-124865200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:124861200-124865200	Weak transcription	NHDF-Ad	bronchial
10	chr4:124862200-124863400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:124862400-124863000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:124862400-124863200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:124862400-124863200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:124862400-124863200	Enhancers	HSMMtube	muscle
15	chr4:124862400-124863200	Enhancers	Osteobl	bone
16	chr4:124862600-124863200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:124862600-124864200	Enhancers	Placenta	Placenta
18	chr4:124862800-124863000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:124862800-124863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:124862800-124863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:124862800-124863200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:124862800-124863600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:124862800-124863800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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