Variant report

Variant	rs16984918
Chromosome Location	chr22:27913377-27913378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2880623	0.85[AMR][1000 genomes]
rs5762228	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5762229	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5997261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6005492	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6005493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27906600-27914000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:27908800-27914000	Weak transcription	Right Atrium	heart
3	chr22:27908800-27914200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:27909200-27914800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:27910400-27915400	Enhancers	Adipose Nuclei	Adipose
6	chr22:27911200-27913600	Weak transcription	Gastric	stomach
7	chr22:27911600-27913800	Weak transcription	Fetal Stomach	stomach
8	chr22:27912000-27913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:27912200-27913800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:27912200-27913800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:27912200-27914000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:27912200-27915200	Weak transcription	Fetal Kidney	kidney
13	chr22:27912400-27913800	Weak transcription	Ovary	ovary
14	chr22:27913000-27915600	Enhancers	Fetal Muscle Leg	muscle
15	chr22:27913200-27913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27913200-27913400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:27913200-27914600	Weak transcription	HSMMtube	muscle
18	chr22:27913200-27914800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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