Variant report

Variant	rs130531
Chromosome Location	chr22:33170683-33170684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs130535	0.82[EUR][1000 genomes]
rs135150	0.82[EUR][1000 genomes]
rs5994625	0.82[EUR][1000 genomes]
rs5998634	0.82[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:9 , 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	chr22:33158400-33171800	Weak transcription	HepG2	liver
3	chr22:33168000-33172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33168200-33172400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:33168600-33172000	Weak transcription	Adipose Nuclei	Adipose
7	chr22:33169200-33172400	Weak transcription	Thymus	Thymus
8	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:33170000-33171800	Weak transcription	Fetal Thymus	thymus

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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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