Variant report

Variant	rs62220277
Chromosome Location	chr21:16648103-16648104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16980826	1.00[EUR][1000 genomes]
rs16980835	1.00[EUR][1000 genomes]
rs16980843	1.00[EUR][1000 genomes]
rs16980928	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17275037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220273	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62220276	1.00[EUR][1000 genomes]
rs62220278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7276931	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277875	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278014	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16636200-16653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16645200-16648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:16645400-16648200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:16646600-16649000	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:16647000-16648200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:16647000-16649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:16647600-16650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:16647800-16648200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:16647800-16649000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:16647800-16649000	Enhancers	HSMM	muscle
11	chr21:16648000-16648400	Enhancers	HSMMtube	muscle
12	chr21:16648000-16648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:16648000-16648800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:16648000-16648800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:16648000-16648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:16648000-16648800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr21:16648000-16649000	Enhancers	Adipose Nuclei	Adipose
18	chr21:16648000-16649000	Enhancers	Placenta	Placenta
19	chr21:16648000-16649000	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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