Variant report

Variant	rs130554
Chromosome Location	chr22:33183583-33183584
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	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs129305	0.93[JPT][hapmap]
rs130290	0.87[EUR][1000 genomes]
rs130293	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs130527	0.92[JPT][hapmap]
rs130528	0.93[JPT][hapmap]
rs130529	0.92[JPT][hapmap]
rs130535	0.85[JPT][hapmap]
rs130544	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs130547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs130550	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135026	0.86[EUR][1000 genomes]
rs135150	0.85[JPT][hapmap]
rs135153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171383	0.87[EUR][1000 genomes]
rs181425	0.87[EUR][1000 genomes]
rs242084	0.87[EUR][1000 genomes]
rs242087	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs25027	0.89[EUR][1000 genomes]
rs5998634	0.90[JPT][hapmap]
rs73158312	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs80267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[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	chr22:33183000-33183800	Weak transcription	Adipose Nuclei	Adipose
24	chr22:33183200-33187600	Enhancers	HepG2	liver

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