Variant report

Variant	rs130551
Chromosome Location	chr22:33182937-33182938
allele	C/T
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
ENSG00000100150	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1018792	0.81[ASN][1000 genomes]
rs11089594	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs130269	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs130270	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs130275	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs130276	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs130287	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs130525	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs130530	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130532	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130533	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs130538	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs130548	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130559	0.83[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130560	0.84[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs135149	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1962223	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821094	0.81[ASN][1000 genomes]
rs4821095	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4821096	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5754251	0.81[ASN][1000 genomes]
rs5994619	0.81[ASN][1000 genomes]
rs5998616	0.81[ASN][1000 genomes]
rs5998622	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72487604	0.81[ASN][1000 genomes]
rs762887	0.81[ASN][1000 genomes]
rs80269	0.84[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929013	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs929014	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9606991	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9606992	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9606993	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9609622	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9609623	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9609631	0.84[CEU][hapmap];0.98[AMR][1000 genomes];0.96[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	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
7	chr22:33177600-33184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:33179800-33186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr22:33180600-33184800	Weak transcription	Lung	lung
10	chr22:33181800-33184800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33182000-33184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33182000-33192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:33182200-33183800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:33182200-33184600	Weak transcription	HSMMtube	muscle
15	chr22:33182200-33184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33182200-33184800	Weak transcription	Fetal Lung	lung
17	chr22:33182200-33184800	Weak transcription	Placenta	Placenta
18	chr22:33182200-33184800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:33182400-33183600	Weak transcription	Fetal Stomach	stomach
20	chr22:33182400-33184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:33182400-33184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:33182800-33183000	Enhancers	Adipose Nuclei	Adipose
24	chr22:33182800-33183200	Weak transcription	HepG2	liver

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