Variant report

Variant	rs130548
Chromosome Location	chr22:33180204-33180205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32920308-32927723..22:33178968-33185617	Hela-S3	cervix:
2	22:32170492-32188129..22:33178968-33185617	Hela-S3	cervix:
3	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1018792	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11089594	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130269	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130270	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130275	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs130276	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs130287	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs130525	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130530	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130532	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130533	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130538	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130551	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130559	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs135149	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1962223	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413148	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4635627	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4821094	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4821095	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4821096	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5754251	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5994619	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5998616	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5998622	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72487604	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs762887	0.81[ASN][1000 genomes]
rs80269	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929013	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs929014	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9606991	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9606992	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9606993	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9609622	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9609623	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9609631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:33176600-33181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33176800-33181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:33176800-33182800	Enhancers	HepG2	liver
7	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
11	chr22:33177600-33180800	Weak transcription	Placenta	Placenta
12	chr22:33177600-33184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:33178000-33181400	Weak transcription	Adipose Nuclei	Adipose
14	chr22:33179800-33186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr22:33180000-33181800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:33180200-33180600	Enhancers	Lung	lung

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