Variant report

Variant	rs2289877
Chromosome Location	chr5:36038220-36038221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2289876	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887704	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451254	0.81[GIH][hapmap];0.88[YRI][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	esv3347042	chr5:35965538-36049066	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2289877	C5orf33	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36031200-36047800	Weak transcription	Fetal Thymus	thymus
2	chr5:36033600-36040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:36034000-36040600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:36035000-36041800	Weak transcription	Fetal Lung	lung
5	chr5:36036600-36040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:36037200-36040800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:36037200-36040800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:36037600-36041200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:36037800-36040600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:36037800-36040600	Weak transcription	Fetal Intestine Small	intestine

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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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