Variant report

Variant	rs130534
Chromosome Location	chr22:33175168-33175169
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1005662	1.00[EUR][1000 genomes]
rs1005663	1.00[EUR][1000 genomes]
rs1005664	1.00[EUR][1000 genomes]
rs11912124	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914041	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12170307	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1365835	1.00[EUR][1000 genomes]
rs16991203	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1894457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998658	1.00[EUR][1000 genomes]
rs9619309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621561	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621566	1.00[AMR][1000 genomes]
rs9621599	1.00[EUR][1000 genomes]
rs9621600	1.00[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33172600-33175400	Weak transcription	Liver	Liver
5	chr22:33173000-33175600	Weak transcription	Pancreas	Pancrea
6	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:33174200-33175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:33174200-33175600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:33174200-33175600	Weak transcription	Fetal Thymus	thymus
11	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:33174400-33175600	Weak transcription	Adipose Nuclei	Adipose
13	chr22:33175000-33176800	Flanking Active TSS	HepG2	liver
14	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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