Variant report

Variant	rs12159808
Chromosome Location	chr22:28992778-28992779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12160448	1.00[AMR][1000 genomes]
rs12160862	1.00[AMR][1000 genomes]
rs12161029	1.00[AMR][1000 genomes]
rs5997402	1.00[AMR][1000 genomes]
rs6005787	1.00[AMR][1000 genomes]
rs6005791	1.00[AMR][1000 genomes]
rs6005836	1.00[AMR][1000 genomes]
rs6005845	1.00[AMR][1000 genomes]
rs7292515	1.00[AMR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28997600	Weak transcription	HepG2	liver
3	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach
4	chr22:28990600-28993200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:28990600-28994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:28991000-28993000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr22:28991000-28993800	Enhancers	Osteobl	bone
8	chr22:28991200-28993400	Enhancers	A549	lung
9	chr22:28991200-28996000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:28991200-28996200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:28991400-28993000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:28991400-28993200	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:28991400-29000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28991400-29001000	Weak transcription	Fetal Lung	lung
15	chr22:28991400-29003600	Weak transcription	NHLF	lung
16	chr22:28991400-29004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:28991600-28992800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:28992000-28993000	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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