Variant report

Variant	rs7564778
Chromosome Location	chr2:20321559-20321560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11675411	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112215	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7563647	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][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	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7564778	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20314200-20322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:20316400-20322000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20319800-20322000	Weak transcription	Esophagus	oesophagus
5	chr2:20320200-20322000	Enhancers	Fetal Intestine Large	intestine
6	chr2:20320400-20322600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:20320400-20326400	Enhancers	Placenta	Placenta
8	chr2:20320600-20322200	Enhancers	Stomach Mucosa	stomach
9	chr2:20320600-20322600	Enhancers	Liver	Liver
10	chr2:20321000-20322400	Bivalent Enhancer	HepG2	liver
11	chr2:20321200-20322000	Enhancers	Fetal Intestine Small	intestine
12	chr2:20321200-20322600	Weak transcription	Pancreas	Pancrea

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