Variant report

Variant	rs130533
Chromosome Location	chr22:33174500-33174501
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33168456-33177374	H1-hESC	embryonic stem cell:	embryo
2	22:32740683-32750950..22:33168456-33177374	K562	blood:

Variant related genes	Relation type
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018790	0.86[ASN][1000 genomes]
rs1018792	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130269	0.83[AMR][1000 genomes]
rs130270	0.83[AMR][1000 genomes]
rs130275	0.82[AMR][1000 genomes]
rs130276	0.82[AMR][1000 genomes]
rs130287	0.82[AMR][1000 genomes]
rs130525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130538	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs130548	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130551	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs130559	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130560	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs135149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1962223	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2413148	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4322932	0.91[ASN][1000 genomes]
rs4635627	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4821094	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754251	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754253	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5994618	0.84[ASN][1000 genomes]
rs5994619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998616	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72487604	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762887	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs80269	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs929013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606991	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9606992	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9606993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609623	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609631	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 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	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33171800-33175000	Enhancers	HepG2	liver
6	chr22:33172600-33175400	Weak transcription	Liver	Liver
7	chr22:33173000-33175600	Weak transcription	Pancreas	Pancrea
8	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33173600-33175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33173800-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33174200-33175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:33174200-33175600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:33174200-33175600	Weak transcription	Fetal Thymus	thymus
15	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:33174400-33175600	Weak transcription	Adipose Nuclei	Adipose

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