Variant report

Variant	rs2593434
Chromosome Location	chr2:30956344-30956345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2593439	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs477229	0.81[MEX][hapmap];0.86[MKK][hapmap]
rs537833	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv873770	chr2:30952987-30984850	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2593434	CCDC121	cis	cerebellum	SCAN
rs2593434	RBKS	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30953600-30965200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:30954000-30965400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:30955400-30957200	Enhancers	Fetal Intestine Small	intestine
5	chr2:30955400-30959400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30956000-30964000	Weak transcription	Gastric	stomach

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