Variant report

Variant	rs62220262
Chromosome Location	chr21:16619266-16619267
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16614350..16617291-chr21:16618922..16620794,2	K562	blood:

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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220261	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16613200-16624000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:16616000-16620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:16616000-16620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:16616000-16620800	Weak transcription	NHEK	skin
5	chr21:16616200-16620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:16616200-16620800	Weak transcription	HMEC	breast
7	chr21:16616200-16626200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:16617200-16624000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:16617400-16619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:16617800-16619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:16618000-16619400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:16618200-16619400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:16618200-16619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:16618400-16619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:16618400-16620000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:16618400-16620000	Enhancers	Colon Smooth Muscle	Colon
17	chr21:16618800-16623400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:16619000-16621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr21:16619000-16622200	Weak transcription	Osteobl	bone
20	chr21:16619200-16620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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