Variant report

Variant	rs16986288
Chromosome Location	chr22:28704223-28704224
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10483148	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs130411	0.85[AMR][1000 genomes]
rs134493	1.00[ASN][1000 genomes]
rs134498	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs16986244	1.00[ASN][1000 genomes]
rs16986248	1.00[ASN][1000 genomes]
rs16986251	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986311	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	1.00[ASN][1000 genomes]
rs16986469	1.00[ASN][1000 genomes]
rs16986502	0.84[EUR][1000 genomes]
rs35438111	1.00[ASN][1000 genomes]
rs5762573	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5762574	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:28693200-28705600	Weak transcription	HepG2	liver
3	chr22:28693800-28709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
5	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28694000-28705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:28694600-28711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28696200-28705600	Weak transcription	Aorta	Aorta
9	chr22:28696200-28711800	Weak transcription	Gastric	stomach
10	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
11	chr22:28696400-28704600	Weak transcription	Adipose Nuclei	Adipose
12	chr22:28696400-28705800	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:28696800-28704600	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:28702800-28704600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:28702800-28714200	Weak transcription	Dnd41	blood
16	chr22:28703000-28705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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