Variant report

Variant	rs62220261
Chromosome Location	chr21:16618091-16618092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12482106	1.00[ASN][1000 genomes]
rs62220260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1811376	chr21:16600040-16623356	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	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	chr21:16613200-16624000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:16613600-16618200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16613600-16618200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:16613600-16618400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:16613600-16618400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:16613600-16618400	Weak transcription	Colon Smooth Muscle	Colon
7	chr21:16614200-16618400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:16615600-16618600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:16615800-16618200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:16616000-16618400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:16616000-16618400	Weak transcription	Osteobl	bone
12	chr21:16616000-16620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:16616000-16620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:16616000-16620800	Weak transcription	NHEK	skin
15	chr21:16616200-16620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:16616200-16620800	Weak transcription	HMEC	breast
17	chr21:16616200-16626200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:16616800-16619200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:16617000-16618800	Active TSS	Primary hematopoietic stem cells	blood
20	chr21:16617200-16624000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:16617400-16619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:16617800-16619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:16618000-16619400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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