Variant report

Variant	rs5754283
Chromosome Location	chr22:33177390-33177391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32477762-32487457..22:33177374-33178968	GM12878	blood:
2	22:32920308-32927723..22:33177374-33178968	H1-hESC	embryonic stem cell:	embryo
3	22:31836635-31847259..22:33177374-33178968	Hela-S3	cervix:
4	22:32868055-32872511..22:33177374-33178968	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100170	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2413156	0.90[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749509	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5754290	0.88[JPT][hapmap]
rs6518796	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619311	0.86[JPT][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
6	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:33175600-33177600	Enhancers	Placenta	Placenta
8	chr22:33175800-33177400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
10	chr22:33176200-33177400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr22:33176400-33177400	Enhancers	Liver	Liver
12	chr22:33176400-33177400	Weak transcription	Right Atrium	heart
13	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:33176600-33177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:33176600-33181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33176800-33181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33176800-33182800	Enhancers	HepG2	liver
19	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links