Variant report

Variant	rs825501
Chromosome Location	chr12:124582215-124582216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124581557..124584588-chr12:124587697..124590714,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10773054	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846601	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846603	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10846604	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11057450	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985823	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2341440	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825490	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs950580	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518962	chr12:124561803-124583446	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124568600-124592000	Weak transcription	Right Atrium	heart
2	chr12:124577600-124583200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:124578200-124582800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:124581400-124582400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:124581400-124582400	Enhancers	Brain Substantia Nigra	brain
6	chr12:124581400-124584400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:124581600-124583200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:124581600-124584000	Enhancers	Fetal Stomach	stomach
9	chr12:124582000-124582400	Enhancers	Brain Cingulate Gyrus	brain
10	chr12:124582000-124582400	Enhancers	Colon Smooth Muscle	Colon
11	chr12:124582000-124582600	Bivalent/Poised TSS	Osteobl	bone
12	chr12:124582000-124582800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr12:124582000-124583000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr12:124582000-124583000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:124582000-124584200	Enhancers	Brain Angular Gyrus	brain
16	chr12:124582000-124584200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr12:124582000-124584600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:124582000-124584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:124582200-124582600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:124582200-124582800	Weak transcription	Aorta	Aorta
21	chr12:124582200-124583000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr12:124582200-124583000	Enhancers	Fetal Brain Female	brain
23	chr12:124582200-124583000	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:124582200-124583200	Enhancers	HSMM	muscle
25	chr12:124582200-124583400	Enhancers	Fetal Kidney	kidney
26	chr12:124582200-124583800	Enhancers	Fetal Lung	lung
27	chr12:124582200-124584400	Enhancers	Ovary	ovary

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