Variant report

Variant	rs130550
Chromosome Location	chr22:33182591-33182592
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	chr22:33181027..33183571-chr22:33197365..33199276,2	MCF-7	breast:
4	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs130293	0.85[EUR][1000 genomes]
rs130544	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs130547	0.91[ASN][1000 genomes]
rs130554	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135153	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs242087	0.87[EUR][1000 genomes]
rs58394026	0.95[AFR][1000 genomes]
rs5998642	0.81[AFR][1000 genomes]
rs73158312	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs80267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:24 , 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	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33176800-33182800	Enhancers	HepG2	liver
4	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
8	chr22:33177600-33184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:33179800-33186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:33180600-33184800	Weak transcription	Lung	lung
11	chr22:33181400-33182600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:33181800-33184800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33182000-33184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:33182000-33192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:33182200-33183800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:33182200-33184600	Weak transcription	HSMMtube	muscle
17	chr22:33182200-33184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:33182200-33184800	Weak transcription	Fetal Lung	lung
19	chr22:33182200-33184800	Weak transcription	Placenta	Placenta
20	chr22:33182200-33184800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr22:33182400-33182800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33182400-33183600	Weak transcription	Fetal Stomach	stomach
23	chr22:33182400-33184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:33182400-33184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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