Variant report

Variant	rs6450769
Chromosome Location	chr5:30390284-30390285
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10940889	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6892741	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7729593	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9686756	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9687405	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915858	chr5:30176470-31018294	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1019680	chr5:30292001-30431119	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1033240	chr5:30297277-30435195	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv597761	chr5:30317487-30434848	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6450769	C5orf22	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:30388600-30391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:30389200-30390600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:30389200-30391200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:30390000-30390400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:30390000-30390600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:30390000-30390600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:30390200-30390400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:30390200-30390600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:30390200-30390600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:30390200-30390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:30390200-30390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:30390200-30390600	Enhancers	NHEK	skin
13	chr5:30390200-30390800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search:

Input of quick search could be:

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

what's new

Quick links