Variant report

Variant	rs16983795
Chromosome Location	chr22:27547911-27547912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16983793	1.00[ASN][1000 genomes]
rs59614553	1.00[AMR][1000 genomes]
rs6005310	1.00[ASN][1000 genomes]
rs60369374	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60795658	0.84[ASN][1000 genomes]
rs61564378	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625160	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27536600-27555000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:27545800-27548000	Enhancers	Fetal Brain Female	brain
3	chr22:27545800-27548200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:27545800-27551200	Enhancers	HUVEC	blood vessel
5	chr22:27546600-27549400	Weak transcription	Gastric	stomach
6	chr22:27546600-27550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:27547000-27548000	Weak transcription	Osteobl	bone
8	chr22:27547400-27548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:27547400-27548200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr22:27547400-27549600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:27547400-27549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:27547400-27551000	Weak transcription	Brain Germinal Matrix	brain
15	chr22:27547800-27551800	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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