Variant report

Variant	rs12813142
Chromosome Location	chr12:124583705-124583706
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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744165	1.00[ASN][1000 genomes]
rs11057471	1.00[ASN][1000 genomes]
rs11057521	1.00[ASN][1000 genomes]
rs12809315	1.00[ASN][1000 genomes]
rs12827974	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832596	1.00[ASN][1000 genomes]
rs35660813	1.00[ASN][1000 genomes]
rs7136170	1.00[ASN][1000 genomes]
rs7300551	1.00[ASN][1000 genomes]
rs7302202	1.00[ASN][1000 genomes]
rs7312585	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315307	1.00[ASN][1000 genomes]
rs7961727	1.00[ASN][1000 genomes]
rs7962075	1.00[ASN][1000 genomes]
rs7971227	1.00[ASN][1000 genomes]
rs7975859	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124568600-124592000	Weak transcription	Right Atrium	heart
2	chr12:124581400-124584400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:124581600-124584000	Enhancers	Fetal Stomach	stomach
4	chr12:124582000-124584200	Enhancers	Brain Angular Gyrus	brain
5	chr12:124582000-124584200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr12:124582000-124584600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:124582000-124584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:124582200-124583800	Enhancers	Fetal Lung	lung
9	chr12:124582200-124584400	Enhancers	Ovary	ovary
10	chr12:124582400-124583800	Enhancers	Brain Germinal Matrix	brain
11	chr12:124582400-124584000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:124582400-124584200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:124582400-124584200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:124582600-124584200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr12:124582600-124584400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr12:124582600-124584600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:124582800-124584400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:124582800-124584600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:124583000-124584200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:124583000-124584600	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:124583000-124584600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:124583200-124584000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:124583200-124584000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:124583200-124584200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr12:124583400-124584200	Enhancers	Brain Substantia Nigra	brain
26	chr12:124583600-124583800	Bivalent Enhancer	HepG2	liver
27	chr12:124583600-124584000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:124583600-124584000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:124583600-124584200	Enhancers	Brain Anterior Caudate	brain

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